Variant report

Variant	nsv869828
Chromosome Location	chr5:118610548-118691190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2942)
CpG islands
(count:976)
Chromatin interactive
region (count:155)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2942 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:118663927-118664031	K562	blood:	n/a	n/a
2	ARID3A	chr5:118660065-118660496	K562	blood:	n/a	n/a
3	ARID3A	chr5:118673259-118673296	K562	blood:	n/a	n/a
4	ARID3A	chr5:118653617-118654445	K562	blood:	n/a	n/a
5	ARID3A	chr5:118657288-118657781	K562	blood:	n/a	n/a
6	ARID3A	chr5:118664564-118664861	K562	blood:	n/a	n/a
7	ARID3A	chr5:118638541-118639268	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:118655094-118655523	K562	blood:	n/a	n/a
9	ARID3A	chr5:118675431-118676059	K562	blood:	n/a	n/a
10	ARID3A	chr5:118667440-118667954	K562	blood:	n/a	n/a
11	ARID3A	chr5:118670705-118671029	HepG2	liver:	n/a	n/a
12	ARID3A	chr5:118658800-118659154	K562	blood:	n/a	n/a
13	ARID3A	chr5:118651348-118651670	K562	blood:	n/a	n/a
14	ARID3A	chr5:118665689-118666797	K562	blood:	n/a	n/a
15	ARID3A	chr5:118658356-118658597	K562	blood:	n/a	n/a
16	ATF1	chr5:118655167-118655680	K562	blood:	n/a	n/a
17	ATF1	chr5:118679408-118679544	K562	blood:	n/a	n/a
18	ATF1	chr5:118665638-118666756	K562	blood:	n/a	n/a
19	ATF1	chr5:118638544-118639090	K562	blood:	n/a	n/a
20	ATF1	chr5:118626054-118626933	K562	blood:	n/a	n/a
21	ATF1	chr5:118658357-118659078	K562	blood:	n/a	n/a
22	ATF1	chr5:118644542-118644901	K562	blood:	n/a	n/a
23	ATF1	chr5:118659999-118660428	K562	blood:	n/a	n/a
24	ATF1	chr5:118676333-118677014	K562	blood:	n/a	n/a
25	ATF1	chr5:118645235-118645417	K562	blood:	n/a	n/a
26	ATF1	chr5:118667517-118667956	K562	blood:	n/a	n/a
27	ATF1	chr5:118670279-118670327	K562	blood:	n/a	n/a
28	ATF1	chr5:118621241-118621642	K562	blood:	n/a	n/a
29	ATF1	chr5:118653922-118654160	K562	blood:	n/a	n/a
30	ATF1	chr5:118623207-118623663	K562	blood:	n/a	n/a
31	ATF1	chr5:118677891-118678079	K562	blood:	n/a	n/a
32	ATF1	chr5:118657270-118657692	K562	blood:	n/a	n/a
33	ATF2	chr5:118610850-118611870	GM12878	blood:	n/a	n/a
34	ATF2	chr5:118644463-118645102	GM12878	blood:	n/a	n/a
35	ATF2	chr5:118679296-118679918	GM12878	blood:	n/a	n/a
36	ATF2	chr5:118651246-118651732	GM12878	blood:	n/a	n/a
37	ATF2	chr5:118667855-118669525	GM12878	blood:	n/a	n/a
38	ATF2	chr5:118689343-118690645	GM12878	blood:	n/a	n/a
39	ATF2	chr5:118644465-118645009	GM12878	blood:	n/a	n/a
40	ATF2	chr5:118670480-118670949	GM12878	blood:	n/a	n/a
41	ATF2	chr5:118675651-118678448	GM12878	blood:	n/a	n/a
42	ATF2	chr5:118625839-118626272	GM12878	blood:	n/a	n/a
43	ATF2	chr5:118675485-118677940	GM12878	blood:	n/a	n/a
44	ATF2	chr5:118653921-118654312	GM12878	blood:	n/a	n/a
45	ATF2	chr5:118623096-118623896	GM12878	blood:	n/a	n/a
46	ATF2	chr5:118653798-118654365	GM12878	blood:	n/a	n/a
47	ATF2	chr5:118662713-118663170	GM12878	blood:	n/a	n/a
48	ATF2	chr5:118689827-118690698	GM12878	blood:	n/a	n/a
49	ATF2	chr5:118679215-118679910	GM12878	blood:	n/a	n/a
50	ATF2	chr5:118659919-118660370	GM12878	blood:	n/a	n/a

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:118623661-118623711	NT2-D1	testis:	n/a
2	chr5:118677172-118677222	Caco-2	colon:	n/a
3	chr5:118691007-118691057	HRE	kidney:	n/a
4	chr5:118690955-118691005	PrEC	prostate:	n/a
5	chr5:118626530-118626580	AG04449	skin:	fetal
6	chr5:118691007-118691057	NT2-D1	testis:	n/a
7	chr5:118635650-118635700	IMR90	lung:	fetal
8	chr5:118665275-118665325	HEK293	kidney:	embryo
9	chr5:118689293-118689343	AG04449	skin:	fetal
10	chr5:118676053-118676103	CMK	blood:	n/a
11	chr5:118691033-118691083	NB4	blood:	n/a
12	chr5:118683890-118683940	T-47D	breast:	n/a
13	chr5:118658343-118658393	AG09319	gingival:	n/a
14	chr5:118691007-118691057	HPAEpiC	pulmonary alveolar:	n/a
15	chr5:118638618-118638668	HAEpiC	amniotic membrane:	n/a
16	chr5:118638618-118638668	Hepatocyte	liver:	n/a
17	chr5:118626530-118626580	SAEC	small airway:	n/a
18	chr5:118658343-118658393	RPTEC	kidney:	n/a
19	chr5:118665275-118665325	HCF	heart:	n/a
20	chr5:118635650-118635700	AG09319	gingival:	n/a
21	chr5:118690955-118691005	MCF-7	breast:	n/a
22	chr5:118638618-118638668	NH-A	brain:	n/a
23	chr5:118676053-118676103	T-47D	breast:	n/a
24	chr5:118690955-118691005	AoSMC	blood vessel:	n/a
25	chr5:118691007-118691057	GM12891	blood:	n/a
26	chr5:118665275-118665325	HCT-116	colon:	n/a
27	chr5:118665275-118665325	Hela-S3	cervix:	n/a
28	chr5:118691126-118691176	NHBE	bronchial:	n/a
29	chr5:118658343-118658393	ovcar-3	ovarian:	n/a
30	chr5:118635650-118635700	Caco-2	colon:	n/a
31	chr5:118638618-118638668	AG09319	gingival:	n/a
32	chr5:118689961-118690011	AG09309	skin:	n/a
33	chr5:118689961-118690011	ProgFib	skin:	n/a
34	chr5:118689293-118689343	SKMC	muscle:	n/a
35	chr5:118689961-118690011	HMEC	breast:	n/a
36	chr5:118690955-118691005	HCPEpiC	choroid plexus:	n/a
37	chr5:118665275-118665325	H1-hESC	embryonic stem cell:	embryo
38	chr5:118676053-118676103	HRPEpiC	eye:	n/a
39	chr5:118665275-118665325	T-47D	breast:	n/a
40	chr5:118691126-118691176	ProgFib	skin:	n/a
41	chr5:118690955-118691005	AG09319	gingival:	n/a
42	chr5:118638618-118638668	HCF	heart:	n/a
43	chr5:118691033-118691083	SK-N-SH_RA	brain:	n/a
44	chr5:118690955-118691005	NH-A	brain:	n/a
45	chr5:118691033-118691083	SK-N-SH	brain:	n/a
46	chr5:118691126-118691176	MCF-7	breast:	n/a
47	chr5:118691007-118691057	GM19239	blood:	n/a
48	chr5:118683890-118683940	BJ	skin:	n/a
49	chr5:118635650-118635700	Jurkat	blood:	n/a
50	chr5:118691007-118691057	AG04450	lung:	fetal

(count:155 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:118623648..118626074-chr5:118666762..118668589,2	MCF-7	breast:
2	chr5:118622285..118624506-chr5:118651501..118653957,2	MCF-7	breast:
3	chr5:118635852..118637512-chr5:118646502..118648651,2	K562	blood:
4	chr5:118608976..118610924-chr5:118611677..118614911,3	K562	blood:
5	chr5:118613152..118615517-chr5:118623481..118626512,3	K562	blood:
6	chr5:118646030..118648702-chr5:118654405..118658630,4	K562	blood:
7	chr5:118651481..118653005-chr5:118654205..118657121,2	MCF-7	breast:
8	chr5:118653729..118656280-chr5:118656437..118659338,2	MCF-7	breast:
9	chr5:118604371..118606788-chr5:118640818..118642448,2	K562	blood:
10	chr5:118602128..118606181-chr5:118606426..118611824,11	MCF-7	breast:
11	chr5:118650756..118653747-chr5:118669086..118671011,2	MCF-7	breast:
12	chr5:118547322..118548106-chr5:118670433..118671294,2	MCF-7	breast:
13	chr5:118666908..118671699-chr5:118672968..118679055,7	K562	blood:
14	chr5:118602852..118606444-chr5:118607322..118611443,10	MCF-7	breast:
15	chr5:118603343..118605781-chr5:118616731..118619723,3	MCF-7	breast:
16	chr5:118628112..118630562-chr5:118637638..118639181,2	K562	blood:
17	chr5:118654543..118656491-chr5:118674624..118677344,2	K562	blood:
18	chr5:118651201..118652914-chr5:118746753..118748686,2	K562	blood:
19	chr5:118666728..118668661-chr5:118669320..118670898,2	MCF-7	breast:
20	chr5:118606692..118610066-chr5:118616114..118619938,5	K562	blood:
21	chr5:118656369..118659015-chr5:118750147..118752975,4	K562	blood:
22	chr5:118622873..118625111-chr5:118638258..118641948,4	MCF-7	breast:
23	chr5:118660112..118661671-chr5:118661964..118664780,2	MCF-7	breast:
24	chr5:118629010..118630794-chr5:118752161..118754078,2	K562	blood:
25	chr5:118666728..118668661-chr5:118669320..118670898,2	MCF-7	breast:
26	chr5:118667237..118669895-chr5:118670074..118672597,2	K562	blood:
27	chr5:118603356..118604946-chr5:118636631..118638796,2	K562	blood:
28	chr5:118602762..118604388-chr5:118664246..118665991,2	MCF-7	breast:
29	chr5:118665150..118667137-chr5:118667473..118670063,2	K562	blood:
30	chr5:118610421..118612422-chr5:118613685..118615437,2	MCF-7	breast:
31	chr5:118603726..118606822-chr5:118616119..118619037,3	MCF-7	breast:
32	chr5:118671639..118673344-chr5:118704484..118706218,2	MCF-7	breast:
33	chr5:118635852..118637512-chr5:118646502..118648651,2	K562	blood:
34	chr5:118670103..118672210-chr5:118744741..118746294,2	MCF-7	breast:
35	chr5:118657976..118659657-chr5:118675627..118677194,2	MCF-7	breast:
36	chr5:118604065..118607023-chr5:118622337..118626495,5	MCF-7	breast:
37	chr5:118608976..118610924-chr5:118611677..118614911,3	K562	blood:
38	chr5:118653729..118656280-chr5:118656437..118659338,2	MCF-7	breast:
39	chr5:118613152..118615517-chr5:118623481..118626512,3	K562	blood:
40	chr5:118624542..118627216-chr5:118638693..118640326,2	MCF-7	breast:
41	chr5:118604157..118605993-chr5:118671344..118674136,2	MCF-7	breast:
42	chr5:118669449..118670965-chr5:118681990..118684958,2	K562	blood:
43	chr5:118617115..118620555-chr5:118621915..118624851,4	MCF-7	breast:
44	chr5:118610566..118612604-chr5:118626504..118628102,2	MCF-7	breast:
45	chr5:118610421..118612422-chr5:118613685..118615437,2	MCF-7	breast:
46	chr5:118654543..118656491-chr5:118674624..118677344,2	K562	blood:
47	chr5:118609964..118611606-chr5:118621803..118623586,2	MCF-7	breast:
48	chr5:118651481..118653005-chr5:118654205..118657121,2	MCF-7	breast:
49	chr5:118628112..118630562-chr5:118637638..118639181,2	K562	blood:
50	chr5:118662612..118665528-chr5:118665801..118667898,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL1-8	chr5:118677271-118680524	NONHSAT103433
2	lnc-DTWD2-9	chr5:118642039-118642326	NONHSAT103432

No data

Variant related genes	Relation type
RN7SL174P	TF binding region
TNFAIP8	TF binding region
RN7SL174P	CpG island
TNFAIP8	CpG island
ENSG00000243333	chromatin interactions
ENSG00000169570	chromatin interactions
ENSG00000172869	chromatin interactions
ENSG00000145779	chromatin interactions
ENSG00000249494	chromatin interactions

Extended variants
information (count: 3439 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3439 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545756545	chr5:118610556-118610557	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs529247046	chr5:118610557-118610558	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs1504978	chr5:118610560-118610561	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs547897226	chr5:118610569-118610570	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs561242923	chr5:118610575-118610576	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs535960747	chr5:118610647-118610648	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs147998366	chr5:118610648-118610649	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs547756818	chr5:118610679-118610680	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs142962299	chr5:118610707-118610708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs557009190	chr5:118610709-118610710	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs5870846	chr5:118610719-118610720	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs397885079	chr5:118610724-118610725	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs529871059	chr5:118610738-118610739	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs150549573	chr5:118610776-118610777	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs549712977	chr5:118610805-118610806	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs569894350	chr5:118610829-118610830	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs78215292	chr5:118610890-118610891	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs552102213	chr5:118610894-118610895	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs565319262	chr5:118610896-118610897	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs183861185	chr5:118610919-118610920	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs554212791	chr5:118610933-118610934	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs568062978	chr5:118610959-118610960	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs569315721	chr5:118611022-118611023	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs17145063	chr5:118611029-118611030	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs61219872	chr5:118611054-118611055	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs17145066	chr5:118611118-118611119	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs377481222	chr5:118611139-118611140	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs578218860	chr5:118611151-118611152	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs576622965	chr5:118611156-118611157	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs188857863	chr5:118611158-118611159	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs145069999	chr5:118611190-118611191	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs572439814	chr5:118611196-118611197	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs113118661	chr5:118611199-118611200	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs561387580	chr5:118611253-118611254	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs539198531	chr5:118611271-118611272	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs139603720	chr5:118611274-118611275	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs193039142	chr5:118611287-118611288	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs111237720	chr5:118611298-118611299	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs1394627	chr5:118611300-118611301	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs544674401	chr5:118611321-118611322	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs372903240	chr5:118611324-118611325	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs572537273	chr5:118611330-118611331	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs141789878	chr5:118611336-118611337	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs543163432	chr5:118611350-118611351	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs528028058	chr5:118611409-118611410	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs184663550	chr5:118611445-118611446	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs188588146	chr5:118611472-118611473	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs377063242	chr5:118611476-118611477	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs113177991	chr5:118611487-118611488	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs142350903	chr5:118611514-118611515	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20531469	CNVD
Prostate cancer	22341455	CNVD
Gastric cancer	17229543	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3388 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118604800-118612000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr5:118605000-118611800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:118605400-118611200	Weak transcription	Lung	lung
4	chr5:118605400-118621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:118605600-118611800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:118605600-118612800	Weak transcription	Fetal Kidney	kidney
7	chr5:118605600-118618200	Weak transcription	Fetal Stomach	stomach
8	chr5:118606200-118617600	Weak transcription	Fetal Lung	lung
9	chr5:118606600-118612000	Enhancers	Pancreas	Pancrea
10	chr5:118606800-118610600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr5:118606800-118610600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:118606800-118611200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr5:118606800-118611400	Flanking Active TSS	GM12878-XiMat	blood
14	chr5:118606800-118612000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:118606800-118614600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:118607000-118610600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:118607000-118611200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:118607000-118612400	Enhancers	Small Intestine	intestine
19	chr5:118607200-118610600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:118607400-118612400	Enhancers	Placenta	Placenta
21	chr5:118607800-118610600	Genic enhancers	K562	blood
22	chr5:118607800-118611000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:118608400-118610600	Enhancers	Fetal Muscle Leg	muscle
24	chr5:118608400-118611200	Enhancers	A549	lung
25	chr5:118608400-118611800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:118608400-118611800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:118608800-118610600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:118608800-118610600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:118608800-118610600	Enhancers	Aorta	Aorta
30	chr5:118608800-118610600	Enhancers	HepG2	liver
31	chr5:118608800-118610800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:118608800-118610800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr5:118608800-118611000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:118608800-118611200	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr5:118608800-118611200	Enhancers	Fetal Intestine Small	intestine
36	chr5:118608800-118612000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:118609000-118610600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:118609000-118610600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr5:118609000-118611200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr5:118609000-118611200	Enhancers	Esophagus	oesophagus
41	chr5:118609000-118611400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr5:118609000-118611400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:118609200-118611200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:118609200-118611400	Enhancers	Fetal Intestine Large	intestine
45	chr5:118609200-118612600	Enhancers	Duodenum Mucosa	Duodenum
46	chr5:118609400-118610600	Enhancers	Colonic Mucosa	Colon
47	chr5:118609400-118610600	Enhancers	Fetal Heart	heart
48	chr5:118609400-118610600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr5:118609400-118610800	Enhancers	Stomach Smooth Muscle	stomach
50	chr5:118609400-118611400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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