Variant report

Variant	nsv883286
Chromosome Location	chr5:179290845-179313656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr5:179297635-179298025	A549	lung:	n/a	n/a
2	BHLHE40	chr5:179297599-179297898	K562	blood:	n/a	n/a
3	CBX3	chr5:179309332-179309677	K562	blood:	n/a	n/a
4	CBX3	chr5:179309270-179309637	K562	blood:	n/a	n/a
5	CBX3	chr5:179310195-179310496	K562	blood:	n/a	n/a
6	CHD2	chr5:179297620-179297820	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr5:179297663-179297711	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr5:179293781-179293972	Spleen_OC	spleen:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
9	CTCF	chr5:179293700-179293850	Caco-2	colon:	n/a	n/a
10	CTCF	chr5:179305340-179305490	GM12864	blood:	n/a	n/a
11	CTCF	chr5:179293800-179293950	GM12870	blood:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
12	CTCF	chr5:179293800-179293950	GM12866	blood:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
13	CTCF	chr5:179297080-179297230	HFF-Myc	foreskin:	n/a	n/a
14	CTCF	chr5:179297680-179297830	Hela-S3	cervix:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
15	CTCF	chr5:179297320-179297470	K562	blood:	n/a	n/a
16	CTCF	chr5:179297660-179297810	NHDF-neo	bronchial:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
17	CTCF	chr5:179297600-179297750	HEK293	kidney:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
18	CTCF	chr5:179297120-179297270	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr5:179293780-179293930	HEK293	kidney:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
20	CTCF	chr5:179297103-179297163	K562	blood:	n/a	n/a
21	CTCF	chr5:179293800-179293950	GM12864	blood:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
22	CTCF	chr5:179296900-179297050	K562	blood:	n/a	n/a
23	CTCF	chr5:179297620-179297770	GM12867	blood:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
24	CTCF	chr5:179293780-179293930	HMEC	breast:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
25	CTCF	chr5:179293800-179293950	GM12869	blood:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
26	CTCF	chr5:179297740-179297890	A549	lung:	n/a	n/a
27	CTCF	chr5:179297680-179297830	GM12873	blood:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
28	CTCF	chr5:179293800-179293950	GM12875	blood:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
29	CTCF	chr5:179293880-179294030	HCFaa	heart:	n/a	n/a
30	CTCF	chr5:179297680-179297830	HUVEC	blood vessel:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
31	CTCF	chr5:179297680-179297830	Caco-2	colon:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
32	CTCF	chr5:179297680-179297830	A549	lung:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
33	CTCF	chr5:179293800-179293950	GM12865	blood:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
34	CTCF	chr5:179297600-179297750	GM12864	blood:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
35	CTCF	chr5:179297620-179297770	GM12874	blood:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
36	CTCF	chr5:179293773-179293982	K562	blood:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
37	CTCF	chr5:179293780-179293930	GM12874	blood:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
38	CTCF	chr5:179293780-179293930	GM12878	blood:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
39	CTCF	chr5:179297660-179297810	AG09319	gingival:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
40	CTCF	chr5:179293760-179293910	GM12873	blood:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
41	CTCF	chr5:179297660-179297810	GM12866	blood:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
42	CTCF	chr5:179293780-179293930	GM12873	blood:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
43	CTCF	chr5:179297580-179297730	WI-38	lung:	n/a	n/a
44	CTCF	chr5:179293777-179293948	GM13977	blood:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
45	CTCF	chr5:179297640-179297790	GM12875	blood:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
46	CTCF	chr5:179297100-179297250	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr5:179293731-179294056	MCF-7	breast:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
48	CTCF	chr5:179297660-179297810	HepG2	liver:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
49	CTCF	chr5:179293784-179293949	GM20000	blood:	n/a	chr5:179293870-179293886 chr5:179293874-179293884 chr5:179293869-179293887 chr5:179293871-179293892 chr5:179293872-179293881
50	CTCF	chr5:179297680-179297830	GM12866	blood:	n/a	chr5:179297718-179297736 chr5:179297721-179297734

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179308555-179308605	HCT-116	colon:	n/a
2	chr5:179308555-179308605	HCT-116	colon:	n/a
3	chr5:179302907-179302957	K562	blood:	n/a
4	chr5:179306210-179306260	AG04449	skin:	fetal
5	chr5:179305602-179305652	GM12891	blood:	n/a
6	chr5:179305602-179305652	PFSK-1	brain:	n/a
7	chr5:179305602-179305652	SKMC	muscle:	n/a
8	chr5:179302907-179302957	ovcar-3	ovarian:	n/a
9	chr5:179297440-179297490	HRPEpiC	eye:	n/a
10	chr5:179306345-179306395	HCM	heart:	n/a
11	chr5:179302907-179302957	MCF-7	breast:	n/a
12	chr5:179306210-179306260	HCM	heart:	n/a
13	chr5:179302907-179302957	AG04450	lung:	fetal
14	chr5:179305602-179305652	MCF-7	breast:	n/a
15	chr5:179306345-179306395	AoSMC	blood vessel:	n/a
16	chr5:179297440-179297490	ProgFib	skin:	n/a
17	chr5:179306266-179306316	HRCEpiC	kidney:	n/a
18	chr5:179306587-179306637	Hela-S3	cervix:	n/a
19	chr5:179305602-179305652	HCF	heart:	n/a
20	chr5:179306210-179306260	HCT-116	colon:	n/a
21	chr5:179306210-179306260	ECC-1	luminal epithelium:	n/a
22	chr5:179306587-179306637	HEK293	kidney:	embryo
23	chr5:179306266-179306316	HMEC	breast:	n/a
24	chr5:179306345-179306395	U87	brain:	n/a
25	chr5:179297440-179297490	HRCEpiC	kidney:	n/a
26	chr5:179302907-179302957	Hepatocyte	liver:	n/a
27	chr5:179306210-179306260	CMK	blood:	n/a
28	chr5:179305602-179305652	HCM	heart:	n/a
29	chr5:179306345-179306395	HIPEpiC	eye:	n/a
30	chr5:179306587-179306637	NB4	blood:	n/a
31	chr5:179297440-179297490	ovcar-3	ovarian:	n/a
32	chr5:179306210-179306260	MCF10A-Er-Src	breast:	n/a
33	chr5:179308555-179308605	NHBE	bronchial:	n/a
34	chr5:179306587-179306637	HepG2	liver:	n/a
35	chr5:179302907-179302957	Hela-S3	cervix:	n/a
36	chr5:179297440-179297490	MCF-7	breast:	n/a
37	chr5:179306210-179306260	HNPCEpiC	eye:	n/a
38	chr5:179305602-179305652	T-47D	breast:	n/a
39	chr5:179306587-179306637	PANC-1	pancreas:	n/a
40	chr5:179305602-179305652	A549	lung:	n/a
41	chr5:179308555-179308605	U87	brain:	n/a
42	chr5:179306345-179306395	RPTEC	kidney:	n/a
43	chr5:179302907-179302957	Caco-2	colon:	n/a
44	chr5:179306210-179306260	U87	brain:	n/a
45	chr5:179306210-179306260	HepG2	liver:	n/a
46	chr5:179308555-179308605	CMK	blood:	n/a
47	chr5:179308555-179308605	MCF-7	breast:	n/a
48	chr5:179302907-179302957	AG10803	skin:	n/a
49	chr5:179306266-179306316	HCPEpiC	choroid plexus:	n/a
50	chr5:179306345-179306395	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr5:179297336..179298161-chr5:179635822..179636672,3	K562	blood:
2	chr5:179294097..179296495-chr5:179297933..179301525,5	K562	blood:
3	chr5:179247857..179250195-chr5:179290932..179292634,3	K562	blood:
4	chr5:179309888..179313402-chr5:179319513..179322081,3	MCF-7	breast:
5	chr5:179290040..179292104-chr5:179300801..179303635,2	K562	blood:
6	chr5:179290040..179292104-chr5:179300801..179303635,2	K562	blood:
7	chr5:179312827..179319105-chr5:179330918..179335028,6	MCF-7	breast:
8	chr5:179294097..179296495-chr5:179297933..179301525,5	K562	blood:
9	chr5:179301651..179303198-chr5:179317402..179319642,2	MCF-7	breast:
10	chr5:179290999..179292757-chr5:179334523..179336715,2	K562	blood:
11	chr5:179246845..179249765-chr5:179300235..179304181,3	MCF-7	breast:
12	chr5:179288672..179291374-chr5:179292378..179294390,2	MCF-7	breast:
13	chr5:179305874..179308839-chr5:179309473..179313731,6	MCF-7	breast:
14	chr5:179252835..179255633-chr5:179294547..179297235,2	K562	blood:
15	chr5:179310913..179313966-chr5:179318977..179321950,4	MCF-7	breast:
16	chr5:179307319..179310872-chr5:179333429..179336113,3	MCF-7	breast:
17	chr5:179289788..179295879-chr5:179298486..179302200,7	MCF-7	breast:
18	chr5:179248037..179250293-chr5:179297490..179300093,2	K562	blood:
19	chr5:179289788..179295879-chr5:179298486..179302200,7	MCF-7	breast:
20	chr5:179306460..179309457-chr5:179314767..179316995,2	MCF-7	breast:
21	chr5:179297440..179299112-chr5:179299118..179300893,2	MCF-7	breast:
22	chr5:179308524..179311732-chr5:179312804..179315984,3	K562	blood:
23	chr5:179231717..179234135-chr5:179302526..179304877,2	MCF-7	breast:
24	chr5:179287101..179289302-chr5:179295168..179298855,3	K562	blood:
25	chr5:179288312..179290452-chr5:179293485..179295109,2	MCF-7	breast:
26	chr5:179286272..179289158-chr5:179311658..179315263,3	K562	blood:
27	chr5:179312285..179314343-chr5:179315369..179317861,2	K562	blood:
28	chr5:179290493..179292247-chr5:179297016..179298960,2	K562	blood:
29	chr5:179297068..179300274-chr5:179333410..179335141,3	MCF-7	breast:
30	chr5:179299225..179301692-chr5:179321391..179324247,2	MCF-7	breast:
31	chr5:179285301..179288103-chr5:179290972..179294711,5	MCF-7	breast:
32	chr5:179288672..179291374-chr5:179292378..179294390,2	MCF-7	breast:
33	chr5:179305601..179308758-chr5:179317802..179320775,3	MCF-7	breast:
34	chr5:179232974..179236015-chr5:179291213..179293489,3	K562	blood:
35	chr5:179290591..179292919-chr5:179305616..179307506,2	MCF-7	breast:
36	chr5:179288562..179291092-chr5:179291407..179293097,2	MCF-7	breast:
37	chr5:179288966..179290772-chr5:179295721..179297520,3	MCF-7	breast:
38	chr5:179285116..179287409-chr5:179295017..179296656,2	MCF-7	breast:
39	chr5:179298607..179301378-chr5:179301718..179304274,2	MCF-7	breast:
40	chr5:179230087..179232097-chr5:179290171..179292438,2	K562	blood:
41	chr5:179299709..179302436-chr5:179308085..179309910,2	MCF-7	breast:
42	chr5:179297440..179299112-chr5:179299118..179300893,2	MCF-7	breast:
43	chr5:179284411..179288482-chr5:179291303..179294641,8	MCF-7	breast:
44	chr5:179293404..179294329-chr5:179334551..179335058,2	MCF-7	breast:
45	chr5:179295070..179296912-chr5:179329695..179331816,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf45-2	chr5:179300119-179300135	NONHSAT105653
2	lnc-C5orf45-1	chr5:179297255-179297408	NONHSAT105652
3	lnc-C5orf45-2	chr5:179299416-179299990	NONHSAT105653
4	lnc-C5orf45-1	chr5:179295058-179296834	NONHSAT105652

Variant related genes	Relation type
C5orf45	TF binding region
TBC1D9B	TF binding region
C5orf45	CpG island
TBC1D9B	CpG island
ENSG00000197226	chromatin interactions
ENSG00000161010	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000146090	chromatin interactions
ENSG00000161013	chromatin interactions
ENSG00000245317	chromatin interactions

Extended variants
information (count: 1072 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1072 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs30386	chr5:179290845-179290846	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191589846	chr5:179290847-179290848	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs201745900	chr5:179290850-179290851	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs375672084	chr5:179290864-179290865	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs528086730	chr5:179290865-179290866	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs149290693	chr5:179290870-179290871	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs368237049	chr5:179290881-179290882	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs144537272	chr5:179290889-179290890	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs61735498	chr5:179290890-179290891	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs113335971	chr5:179290918-179290919	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs147706585	chr5:179290933-179290934	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs182500030	chr5:179290940-179290941	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs537504596	chr5:179290942-179290943	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs372299714	chr5:179290948-179290949	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs541008254	chr5:179290954-179290955	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs140668514	chr5:179290970-179290971	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs185070653	chr5:179290989-179290990	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs144624491	chr5:179290990-179290991	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs534675849	chr5:179291009-179291010	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs552871928	chr5:179291017-179291018	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs200438741	chr5:179291023-179291024	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs189711355	chr5:179291042-179291043	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs199637229	chr5:179291047-179291048	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs377265918	chr5:179291051-179291052	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs182237308	chr5:179291056-179291057	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs201894738	chr5:179291062-179291063	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs553483988	chr5:179291063-179291064	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs371420876	chr5:179291067-179291068	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs375851946	chr5:179291076-179291077	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs147946905	chr5:179291086-179291087	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs201538926	chr5:179291102-179291103	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs201051546	chr5:179291128-179291129	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs376566358	chr5:179291134-179291135	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs200664880	chr5:179291160-179291161	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs540204653	chr5:179291169-179291170	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs369510248	chr5:179291172-179291173	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs560103379	chr5:179291180-179291181	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs533624621	chr5:179291184-179291185	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs187993063	chr5:179291250-179291251	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs150645320	chr5:179291271-179291272	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs172056	chr5:179291279-179291280	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs112775701	chr5:179291332-179291333	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs531002188	chr5:179291400-179291401	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs549484838	chr5:179291434-179291435	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs567394496	chr5:179291436-179291437	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs534713463	chr5:179291449-179291450	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs552910492	chr5:179291464-179291465	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs42201	chr5:179291585-179291586	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
49	rs538597341	chr5:179291594-179291595	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs556968179	chr5:179291635-179291636	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:871 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179286200-179310600	Weak transcription	Stomach Mucosa	stomach
2	chr5:179286400-179303000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:179286600-179310600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:179286600-179310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:179286600-179311400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:179287200-179296400	Weak transcription	HUVEC	blood vessel
7	chr5:179287200-179333600	Weak transcription	Right Atrium	heart
8	chr5:179287400-179294600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:179287600-179291000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:179287600-179291800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:179287800-179296800	Weak transcription	Fetal Heart	heart
12	chr5:179287800-179302200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:179287800-179310000	Weak transcription	Fetal Brain Male	brain
14	chr5:179288400-179291200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:179288400-179292400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:179288400-179292400	Strong transcription	HSMM	muscle
17	chr5:179288400-179308400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:179288400-179308400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:179288400-179310600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:179288800-179291000	ZNF genes & repeats	Fetal Intestine Large	intestine
21	chr5:179288800-179292400	Strong transcription	A549	lung
22	chr5:179289000-179292000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:179289000-179292000	Strong transcription	Brain Anterior Caudate	brain
24	chr5:179289000-179294200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:179289000-179294400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:179289000-179294600	Strong transcription	Fetal Lung	lung
27	chr5:179289000-179295200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:179289000-179295200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr5:179289000-179300400	Strong transcription	Osteobl	bone
30	chr5:179289000-179306800	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr5:179289000-179307000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:179289000-179308800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:179289000-179309200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:179289200-179291200	Strong transcription	GM12878-XiMat	blood
35	chr5:179289200-179291800	Strong transcription	Brain Cingulate Gyrus	brain
36	chr5:179289200-179292000	Strong transcription	Brain Angular Gyrus	brain
37	chr5:179289200-179292000	Strong transcription	Brain Hippocampus Middle	brain
38	chr5:179289200-179292600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:179289200-179292800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr5:179289200-179293200	Strong transcription	Spleen	Spleen
41	chr5:179289200-179294000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr5:179289200-179294000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:179289200-179294000	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr5:179289200-179294200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr5:179289200-179294200	Strong transcription	NHEK	skin
46	chr5:179289200-179294800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr5:179289200-179295800	Strong transcription	Fetal Thymus	thymus
48	chr5:179289200-179297600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:179289200-179297800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:179289200-179303400	Strong transcription	Monocytes-CD14+_RO01746	blood

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