Variant report

Variant	nsv882193
Chromosome Location	chr5:74656175-74917862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3083)
CpG islands
(count:2381)
Chromatin interactive
region (count:126)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:7)

(count:3083 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:74904794-74905021	K562	blood:	n/a	n/a
2	ARID3A	chr5:74734777-74734829	K562	blood:	n/a	n/a
3	ARID3A	chr5:74903955-74904149	K562	blood:	n/a	n/a
4	ARID3A	chr5:74814259-74814285	K562	blood:	n/a	n/a
5	ARID3A	chr5:74916424-74916742	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:74701386-74701433	K562	blood:	n/a	n/a
7	ARID3A	chr5:74915925-74916471	K562	blood:	n/a	n/a
8	ARID3A	chr5:74805985-74806006	K562	blood:	n/a	n/a
9	ARID3A	chr5:74677285-74677772	K562	blood:	n/a	chr5:74677737-74677753
10	ARID3A	chr5:74913152-74913154	K562	blood:	n/a	n/a
11	ARID3A	chr5:74819121-74819443	HepG2	liver:	n/a	n/a
12	ARID3A	chr5:74812604-74812638	K562	blood:	n/a	n/a
13	ARID3A	chr5:74862715-74863894	K562	blood:	n/a	n/a
14	ARID3A	chr5:74807447-74807886	HepG2	liver:	n/a	n/a
15	ARID3A	chr5:74912064-74912380	K562	blood:	n/a	n/a
16	ARID3A	chr5:74669706-74670670	HepG2	liver:	n/a	n/a
17	ARID3A	chr5:74906446-74906556	K562	blood:	n/a	n/a
18	ATF1	chr5:74807363-74807935	K562	blood:	n/a	n/a
19	ATF1	chr5:74862721-74863061	K562	blood:	n/a	n/a
20	ATF1	chr5:74863472-74863878	K562	blood:	n/a	n/a
21	ATF1	chr5:74769475-74769581	K562	blood:	n/a	n/a
22	ATF1	chr5:74677187-74677677	K562	blood:	n/a	n/a
23	ATF1	chr5:74912163-74912344	K562	blood:	n/a	n/a
24	ATF2	chr5:74807091-74808445	GM12878	blood:	n/a	n/a
25	ATF2	chr5:74819875-74820317	GM12878	blood:	n/a	n/a
26	ATF2	chr5:74862440-74863129	GM12878	blood:	n/a	n/a
27	ATF2	chr5:74871087-74871872	GM12878	blood:	n/a	n/a
28	ATF2	chr5:74870688-74871677	GM12878	blood:	n/a	n/a
29	ATF2	chr5:74819795-74820370	GM12878	blood:	n/a	n/a
30	ATF2	chr5:74662613-74663071	GM12878	blood:	n/a	n/a
31	ATF2	chr5:74862437-74863106	GM12878	blood:	n/a	n/a
32	ATF2	chr5:74807353-74807916	GM12878	blood:	n/a	n/a
33	ATF3	chr5:74863563-74863848	K562	blood:	n/a	n/a
34	ATF3	chr5:74862524-74863113	K562	blood:	n/a	n/a
35	ATF3	chr5:74807482-74807834	K562	blood:	n/a	n/a
36	BACH1	chr5:74862833-74862978	K562	blood:	n/a	chr5:74862884-74862898
37	BACH1	chr5:74807586-74808018	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr5:74907812-74907884	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr5:74863648-74863757	K562	blood:	n/a	n/a
40	BACH1	chr5:74889810-74889831	H1-hESC	embryonic stem cell:	n/a	n/a
41	BATF	chr5:74769789-74770085	GM12878	blood:	n/a	n/a
42	BATF	chr5:74807602-74807877	GM12878	blood:	n/a	n/a
43	BATF	chr5:74819848-74820276	GM12878	blood:	n/a	chr5:74820117-74820127 chr5:74820113-74820123
44	BATF	chr5:74861931-74862138	GM12878	blood:	n/a	n/a
45	BATF	chr5:74864113-74864399	GM12878	blood:	n/a	n/a
46	BATF	chr5:74871273-74871606	GM12878	blood:	n/a	n/a
47	BATF	chr5:74862473-74863017	GM12878	blood:	n/a	n/a
48	BATF	chr5:74822009-74822205	GM12878	blood:	n/a	n/a
49	BATF	chr5:74870977-74871704	GM12878	blood:	n/a	n/a
50	BATF	chr5:74863505-74863889	GM12878	blood:	n/a	n/a

(count:2381 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:74904484-74904534	SKMC	muscle:	n/a
2	chr5:74657448-74657498	SAEC	small airway:	n/a
3	chr5:74904484-74904534	SKMC	muscle:	n/a
4	chr5:74657448-74657498	SAEC	small airway:	n/a
5	chr5:74807882-74807932	HepG2	liver:	n/a
6	chr5:74807815-74807865	GM12878	blood:	n/a
7	chr5:74798138-74798188	NHBE	bronchial:	n/a
8	chr5:74904484-74904534	AG09309	skin:	n/a
9	chr5:74910129-74910179	AG10803	skin:	n/a
10	chr5:74913041-74913091	HUVEC	blood vessel:	n/a
11	chr5:74807542-74807592	ECC-1	luminal epithelium:	n/a
12	chr5:74807542-74807592	SK-N-SH_RA	brain:	n/a
13	chr5:74659162-74659212	H1-hESC	embryonic stem cell:	embryo
14	chr5:74657448-74657498	HCT-116	colon:	n/a
15	chr5:74807542-74807592	SK-N-MC	brain:	n/a
16	chr5:74778002-74778052	T-47D	breast:	n/a
17	chr5:74908142-74908192	AG09319	gingival:	n/a
18	chr5:74807308-74807358	Hepatocyte	liver:	n/a
19	chr5:74808051-74808101	HAEpiC	amniotic membrane:	n/a
20	chr5:74807907-74807957	ECC-1	luminal epithelium:	n/a
21	chr5:74778002-74778052	HIPEpiC	eye:	n/a
22	chr5:74908142-74908192	RPTEC	kidney:	n/a
23	chr5:74672346-74672396	GM12892	blood:	n/a
24	chr5:74833385-74833435	ProgFib	skin:	n/a
25	chr5:74808051-74808101	AG09319	gingival:	n/a
26	chr5:74807689-74807739	GM19239	blood:	n/a
27	chr5:74807882-74807932	NHDF-neo	bronchial:	n/a
28	chr5:74798138-74798188	GM06990	blood:	n/a
29	chr5:74807937-74807987	MCF-7	breast:	n/a
30	chr5:74707372-74707422	A549	lung:	n/a
31	chr5:74659162-74659212	LNCaP	prostate:	n/a
32	chr5:74908170-74908220	MCF-7	breast:	n/a
33	chr5:74906150-74906200	HNPCEpiC	eye:	n/a
34	chr5:74807535-74807585	GM12891	blood:	n/a
35	chr5:74907592-74907642	HCPEpiC	choroid plexus:	n/a
36	chr5:74806951-74807001	H1-hESC	embryonic stem cell:	embryo
37	chr5:74672346-74672396	HRPEpiC	eye:	n/a
38	chr5:74907592-74907642	CMK	blood:	n/a
39	chr5:74811445-74811495	HRE	kidney:	n/a
40	chr5:74806504-74806554	GM06990	blood:	n/a
41	chr5:74807829-74807879	AoSMC	blood vessel:	n/a
42	chr5:74659162-74659212	NHDF-neo	bronchial:	n/a
43	chr5:74906150-74906200	A549	lung:	n/a
44	chr5:74913041-74913091	AG09319	gingival:	n/a
45	chr5:74659162-74659212	AG10803	skin:	n/a
46	chr5:74806661-74806711	GM12891	blood:	n/a
47	chr5:74906150-74906200	AG10803	skin:	n/a
48	chr5:74907694-74907744	AG09309	skin:	n/a
49	chr5:74908142-74908192	GM12891	blood:	n/a
50	chr5:74762295-74762345	RPTEC	kidney:	n/a

(count:126 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:74880080..74881244-chr5:74962362..74964218,14	MCF-7	breast:
2	chr3:167116749..167117659-chr5:74876077..74876717,2	MCF-7	breast:
3	chr5:74845037..74847535-chr5:74848930..74850561,2	K562	blood:
4	chr5:74796618..74799716-chr5:74800501..74803148,3	K562	blood:
5	chr5:74808667..74810597-chr5:74818060..74820048,3	K562	blood:
6	chr10:15412992..15413653-chr5:74896234..74896879,2	MCF-7	breast:
7	chr5:74868580..74871320-chr5:74902166..74903871,2	MCF-7	breast:
8	chr5:74915137..74917681-chr5:74948612..74950531,2	K562	blood:
9	chr5:74717369..74719270-chr5:74723978..74725689,2	K562	blood:
10	chr5:74631027..74633689-chr5:74669899..74673257,3	MCF-7	breast:
11	chr5:74840733..74842326-chr5:74845611..74848333,2	K562	blood:
12	chr5:74864380..74866848-chr5:75012223..75014112,2	K562	blood:
13	chr5:74773320..74775283-chr5:74785477..74788278,2	K562	blood:
14	chr5:74863361..74865877-chr5:74866045..74867591,2	MCF-7	breast:
15	chr5:74735651..74738520-chr5:74798535..74800607,2	K562	blood:
16	chr5:74757814..74760336-chr5:74803800..74805741,2	MCF-7	breast:
17	chr5:74811101..74813110-chr5:74815287..74817345,2	K562	blood:
18	chr5:74801840..74804392-chr5:74804791..74808072,5	K562	blood:
19	chr5:74722161..74724280-chr5:74725505..74728463,2	K562	blood:
20	chr5:74653986..74657111-chr5:74658520..74660531,3	K562	blood:
21	chr5:74881366..74883122-chr5:74885074..74886574,2	K562	blood:
22	chr5:74852680..74855218-chr5:74864113..74866476,2	K562	blood:
23	chr5:74695714..74697821-chr5:74698263..74700254,2	K562	blood:
24	chr5:74790647..74794380-chr5:74795733..74800125,4	K562	blood:
25	chr5:74805305..74807843-chr5:74822655..74824255,2	MCF-7	breast:
26	chr5:74793165..74795664-chr5:74814824..74817209,2	K562	blood:
27	chr5:74815294..74818982-chr5:74820247..74823584,4	K562	blood:
28	chr5:74885603..74887138-chr5:74892522..74895230,2	K562	blood:
29	chr5:74775852..74778323-chr5:74787473..74789396,2	K562	blood:
30	chr5:74806025..74808781-chr5:74906137..74908952,2	MCF-7	breast:
31	chr5:74893769..74896975-chr5:74898744..74901246,3	K562	blood:
32	chr5:74712709..74715090-chr5:74716587..74719083,2	K562	blood:
33	chr5:74871511..74873926-chr5:75008368..75010666,2	K562	blood:
34	chr5:74820287..74822535-chr5:74827846..74830107,2	K562	blood:
35	chr5:74805731..74808646-chr5:74817149..74819644,4	MCF-7	breast:
36	chr5:74796488..74799637-chr5:74801966..74804118,4	MCF-7	breast:
37	chr5:74811981..74814673-chr5:74874113..74876597,2	K562	blood:
38	chr5:74804574..74807080-chr5:74963425..74964973,2	K562	blood:
39	chr5:74688554..74690802-chr5:74806794..74808772,2	MCF-7	breast:
40	chr5:74808217..74810593-chr5:74816041..74817596,2	K562	blood:
41	chr5:74796642..74799069-chr5:75014421..75017256,2	K562	blood:
42	chr5:74863361..74865877-chr5:74866045..74867591,2	MCF-7	breast:
43	chr5:74828971..74830534-chr5:74850595..74852572,2	K562	blood:
44	chr5:74839175..74841677-chr5:74843205..74845206,2	K562	blood:
45	chr5:74804046..74805995-chr5:74976601..74978123,2	K562	blood:
46	chr5:74656438..74658329-chr5:74806583..74808480,2	MCF-7	breast:
47	chr1:155904008..155904889-chr5:74806958..74807496,2	Hela-S3	cervix:
48	chr5:74912024..74914449-chr5:74922011..74924010,2	K562	blood:
49	chr5:74828971..74830534-chr5:74850595..74852572,2	K562	blood:
50	chr5:74913060..74915078-chr5:74915803..74919443,3	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKDD1B-1	chr5:74906143-74906582	XLOC_004431
2	lnc-ANKDD1B-3	chr5:74893572-74893865	NONHSAT102209
3	lnc-POC5-4	chr5:74907076-74907508	NONHSAT102214
4	lnc-ANKDD1B-3	chr5:74892939-74893003	NONHSAT102209
5	lnc-ANKDD1B-2	chr5:74904642-74905808	ENSG00000272040.1
6	lnc-ANKDD1B-3	chr5:74893759-74893813	NONHSAT102210
7	lnc-ANKDD1B-3	chr5:74893242-74893614	NONHSAT102210
8	lnc-POC5-1	chr5:74894952-74895205	ENSG00000248881.1
9	lnc-POC5-1	chr5:74894307-74894806	ENSG00000248881.1
10	lnc-HMGCR-2	chr5:74670288-74670634	NONHSAT102207
11	lnc-ANKRD31-2	chr5:74664312-74667666	NONHSAT102205
12	lnc-POC5-4	chr5:74907701-74908056	NONHSAT102214
13	lnc-HMGCR-1	chr5:74659585-74660067	ENSG00000271815.1
14	lnc-ANKDD1B-1	chr5:74902446-74902775	XLOC_004431

No data

(count:7 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	POLK	hsa-miR-30c-5p	chr5:74877682-74877705
2	HMGCR	hsa-miR-92a-3p	chr5:74656502-74656523
3	HMGCR	hsa-miR-32-5p	chr5:74656500-74656523
4	POLK	hsa-miR-132-3p	chr5:74878186-74878207
5	HMGCR	hsa-miR-29c-3p	chr5:74656684-74656690
6	HMGCR	hsa-miR-29c-3p	chr5:74656670-74656691
7	HMGCR	hsa-miR-335-5p	chr5:74657557-74657580

Variant related genes	Relation type
ENSG00000242198	TF binding region
POLK	TF binding region
COL4A3BP	TF binding region
ENSG00000271815	TF binding region
ENSG00000272040	TF binding region
ANKDD1B	TF binding region
ENSG00000248881	TF binding region
RNU7-175P	TF binding region
ENSG00000242198	CpG island
POLK	CpG island
COL4A3BP	CpG island
ENSG00000271815	CpG island
ENSG00000272040	CpG island
ANKDD1B	CpG island
ENSG00000248881	CpG island
RNU7-175P	CpG island
ENSG00000152359	chromatin interactions
ENSG00000271815	chromatin interactions
ENSG00000189159	chromatin interactions
ENSG00000122008	chromatin interactions
ENSG00000132680	chromatin interactions
ENSG00000248881	chromatin interactions
ENSG00000113161	chromatin interactions
ENSG00000166986	chromatin interactions
ENSG00000247372	chromatin interactions
ENSG00000189045	chromatin interactions
ENSG00000148468	chromatin interactions
ENSG00000113163	chromatin interactions

Extended variants
information (count: 9424 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:9424 , 50 per page) page: 1 2 3 4 5 6 7 ... 189

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5909	chr5:74656175-74656176	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538873925	chr5:74656194-74656195	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs377093901	chr5:74656201-74656202	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369718117	chr5:74656204-74656205	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575659287	chr5:74656232-74656233	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144433856	chr5:74656248-74656249	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527709113	chr5:74656268-74656269	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1044453	chr5:74656274-74656275	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113929238	chr5:74656405-74656406	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34652146	chr5:74656420-74656421	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564643763	chr5:74656434-74656435	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185134032	chr5:74656443-74656444	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs116982050	chr5:74656496-74656497	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs12916	chr5:74656539-74656540	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
15	rs150429867	chr5:74656552-74656553	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs190361243	chr5:74656553-74656554	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs181085369	chr5:74656565-74656566	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs185976660	chr5:74656567-74656568	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs188007262	chr5:74656568-74656569	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs546034977	chr5:74656573-74656574	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs151001406	chr5:74656591-74656592	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs531890816	chr5:74656601-74656602	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs548549965	chr5:74656636-74656637	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs139575263	chr5:74656645-74656646	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs17244932	chr5:74656664-74656665	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550201228	chr5:74656696-74656697	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs529621575	chr5:74656767-74656768	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs369318620	chr5:74656795-74656796	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs35436905	chr5:74656797-74656798	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs112757256	chr5:74656845-74656846	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs570161173	chr5:74656846-74656847	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs144363655	chr5:74656851-74656852	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs188299797	chr5:74656857-74656858	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs147706448	chr5:74656941-74656942	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs142426526	chr5:74656983-74656984	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs192298408	chr5:74657028-74657029	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs184678510	chr5:74657033-74657034	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs146432226	chr5:74657042-74657043	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs540296550	chr5:74657086-74657087	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs549285471	chr5:74657162-74657163	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs376889989	chr5:74657192-74657193	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs371541845	chr5:74657233-74657234	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs576963846	chr5:74657258-74657259	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs545850890	chr5:74657273-74657274	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs10474435	chr5:74657280-74657281	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6805	chr5:74657284-74657285	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs112915543	chr5:74657313-74657314	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs533579865	chr5:74657448-74657449	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs189370032	chr5:74657449-74657450	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs553481996	chr5:74657453-74657454	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6974 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74635600-74659600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:74636800-74659200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:74637200-74659600	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:74637800-74658400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:74637800-74658800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:74638200-74658400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:74638200-74659800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:74638200-74660400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:74638200-74660400	Strong transcription	Fetal Thymus	thymus
10	chr5:74638400-74657600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:74638400-74657800	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr5:74638400-74659000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:74638400-74659000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:74638400-74659000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:74638400-74659200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:74638400-74659200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr5:74638400-74659800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:74638600-74659200	Strong transcription	Dnd41	blood
19	chr5:74638600-74659400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:74638600-74659600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:74638600-74660200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:74638600-74660400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:74638800-74658800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:74638800-74658800	Strong transcription	NHEK	skin
25	chr5:74638800-74659800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:74639000-74656200	Strong transcription	Liver	Liver
27	chr5:74639000-74658000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr5:74639000-74658800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:74639000-74659000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:74639000-74659600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:74639400-74658800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr5:74639400-74659200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:74639400-74660000	Strong transcription	NHLF	lung
34	chr5:74639400-74660400	Strong transcription	HMEC	breast
35	chr5:74639600-74658000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr5:74639600-74659000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr5:74639600-74659000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:74639600-74659400	Strong transcription	Placenta	Placenta
39	chr5:74639800-74657800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr5:74639800-74660000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:74640400-74659200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:74641000-74659200	Strong transcription	Fetal Intestine Large	intestine
43	chr5:74641200-74659000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:74641400-74658400	Strong transcription	Adipose Nuclei	Adipose
45	chr5:74641600-74656400	Strong transcription	Brain Germinal Matrix	brain
46	chr5:74641600-74657800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:74642000-74656800	Strong transcription	HepG2	liver
48	chr5:74642200-74658800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:74643400-74657400	Strong transcription	A549	lung
50	chr5:74643600-74659400	Strong transcription	HUVEC	blood vessel

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