Variant report

Variant	nsv878581
Chromosome Location	chr4:8021592-8100272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:801)
CpG islands
(count:2688)
Chromatin interactive
region (count:35)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:801 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:8087444-8087723	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr4:8052351-8052437	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr4:8083478-8083876	GM12878	blood:	n/a	n/a
4	BCL3	chr4:8048544-8049032	GM12878	blood:	n/a	chr4:8049002-8049011
5	BCL3	chr4:8039082-8039561	GM12878	blood:	n/a	n/a
6	BCL3	chr4:8083394-8083848	GM12878	blood:	n/a	n/a
7	BCL3	chr4:8029834-8030570	GM12878	blood:	n/a	n/a
8	BCL3	chr4:8051760-8052130	GM12878	blood:	n/a	n/a
9	BCL3	chr4:8051772-8052024	GM12878	blood:	n/a	n/a
10	BCL3	chr4:8081328-8081624	GM12878	blood:	n/a	n/a
11	BCL3	chr4:8048580-8049026	GM12878	blood:	n/a	chr4:8049002-8049011
12	BCL3	chr4:8081299-8081650	GM12878	blood:	n/a	n/a
13	BCL3	chr4:8038912-8039504	GM12878	blood:	n/a	n/a
14	BCL3	chr4:8029949-8030517	GM12878	blood:	n/a	n/a
15	BHLHE40	chr4:8042425-8042692	HepG2	liver:	n/a	n/a
16	BHLHE40	chr4:8023560-8023959	K562	blood:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
17	BHLHE40	chr4:8023530-8024019	HepG2	liver:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
18	BHLHE40	chr4:8042424-8042710	K562	blood:	n/a	n/a
19	BHLHE40	chr4:8052473-8052834	HepG2	liver:	n/a	n/a
20	BHLHE40	chr4:8023606-8023917	A549	lung:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
21	BHLHE40	chr4:8069388-8069707	K562	blood:	n/a	n/a
22	BHLHE40	chr4:8023583-8023853	HepG2	liver:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
23	BHLHE40	chr4:8023654-8023855	HepG2	liver:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
24	BHLHE40	chr4:8080025-8080049	K562	blood:	n/a	n/a
25	BHLHE40	chr4:8080566-8081051	K562	blood:	n/a	n/a
26	BHLHE40	chr4:8052547-8052963	HepG2	liver:	n/a	n/a
27	BHLHE40	chr4:8083635-8083826	K562	blood:	n/a	n/a
28	BRCA1	chr4:8030194-8030478	H1-hESC	embryonic stem cell:	n/a	n/a
29	CBX3	chr4:8065744-8066192	HCT-116	colon:	n/a	n/a
30	CBX3	chr4:8095660-8095962	K562	blood:	n/a	n/a
31	CBX3	chr4:8095678-8095901	K562	blood:	n/a	n/a
32	CBX3	chr4:8095185-8095996	HCT-116	colon:	n/a	n/a
33	CBX3	chr4:8065778-8066062	K562	blood:	n/a	n/a
34	CBX3	chr4:8095268-8095633	K562	blood:	n/a	n/a
35	CBX3	chr4:8065639-8066235	HCT-116	colon:	n/a	n/a
36	CBX3	chr4:8065798-8065980	K562	blood:	n/a	n/a
37	CBX3	chr4:8095247-8095629	K562	blood:	n/a	n/a
38	CCNT2	chr4:8089199-8089399	K562	blood:	n/a	n/a
39	CEBPB	chr4:8034949-8035108	HepG2	liver:	n/a	n/a
40	CEBPB	chr4:8095320-8095400	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr4:8058752-8058940	HepG2	liver:	n/a	chr4:8058881-8058892
42	CEBPB	chr4:8100136-8100164	HepG2	liver:	n/a	n/a
43	CEBPB	chr4:8058783-8058947	HepG2	liver:	n/a	chr4:8058881-8058892
44	CEBPB	chr4:8081899-8082151	H1-hESC	embryonic stem cell:	n/a	chr4:8082008-8082021
45	CEBPB	chr4:8081951-8082124	HepG2	liver:	n/a	chr4:8082008-8082021
46	CEBPB	chr4:8095213-8095358	A549	lung:	n/a	n/a
47	CEBPB	chr4:8055589-8055789	HepG2	liver:	n/a	n/a
48	CEBPD	chr4:8052511-8052966	HepG2	liver:	n/a	n/a
49	CHD2	chr4:8049980-8049988	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr4:8051122-8051443	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2688 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8098178-8098228	HIPEpiC	eye:	n/a
2	chr4:8062590-8062640	BJ	skin:	n/a
3	chr4:8087448-8087498	HPAEpiC	pulmonary alveolar:	n/a
4	chr4:8085866-8085916	Hepatocyte	liver:	n/a
5	chr4:8098178-8098228	HIPEpiC	eye:	n/a
6	chr4:8062590-8062640	BJ	skin:	n/a
7	chr4:8087448-8087498	HPAEpiC	pulmonary alveolar:	n/a
8	chr4:8085866-8085916	Hepatocyte	liver:	n/a
9	chr4:8081226-8081276	NHBE	bronchial:	n/a
10	chr4:8046547-8046597	SKMC	muscle:	n/a
11	chr4:8074092-8074142	CMK	blood:	n/a
12	chr4:8062590-8062640	ovcar-3	ovarian:	n/a
13	chr4:8071486-8071536	ECC-1	luminal epithelium:	n/a
14	chr4:8098319-8098369	HEK293	kidney:	embryo
15	chr4:8082084-8082134	NH-A	brain:	n/a
16	chr4:8062478-8062528	HNPCEpiC	eye:	n/a
17	chr4:8087448-8087498	NH-A	brain:	n/a
18	chr4:8073790-8073840	SAEC	small airway:	n/a
19	chr4:8087436-8087486	GM12878	blood:	n/a
20	chr4:8022647-8022697	RPTEC	kidney:	n/a
21	chr4:8084145-8084195	Caco-2	colon:	n/a
22	chr4:8046547-8046597	HAEpiC	amniotic membrane:	n/a
23	chr4:8034335-8034385	HIPEpiC	eye:	n/a
24	chr4:8062478-8062528	AG09309	skin:	n/a
25	chr4:8098270-8098320	GM19239	blood:	n/a
26	chr4:8071003-8071053	ProgFib	skin:	n/a
27	chr4:8085866-8085916	NT2-D1	testis:	n/a
28	chr4:8089239-8089289	HEK293	kidney:	embryo
29	chr4:8098851-8098901	ovcar-3	ovarian:	n/a
30	chr4:8024970-8025020	HEK293	kidney:	embryo
31	chr4:8071003-8071053	MCF10A-Er-Src	breast:	n/a
32	chr4:8098876-8098926	MCF-7	breast:	n/a
33	chr4:8062541-8062591	HCT-116	colon:	n/a
34	chr4:8062541-8062591	A549	lung:	n/a
35	chr4:8071003-8071053	HAEpiC	amniotic membrane:	n/a
36	chr4:8091040-8091090	ECC-1	luminal epithelium:	n/a
37	chr4:8023314-8023364	ovcar-3	ovarian:	n/a
38	chr4:8073804-8073854	HNPCEpiC	eye:	n/a
39	chr4:8081226-8081276	PFSK-1	brain:	n/a
40	chr4:8074192-8074242	MCF10A-Er-Src	breast:	n/a
41	chr4:8087448-8087498	HCT-116	colon:	n/a
42	chr4:8071003-8071053	AG10803	skin:	n/a
43	chr4:8022071-8022121	HCT-116	colon:	n/a
44	chr4:8071486-8071536	PrEC	prostate:	n/a
45	chr4:8098319-8098369	K562	blood:	n/a
46	chr4:8082084-8082134	HCM	heart:	n/a
47	chr4:8081417-8081467	AG04450	lung:	fetal
48	chr4:8022071-8022121	ProgFib	skin:	n/a
49	chr4:8087436-8087486	AG04449	skin:	fetal
50	chr4:8087436-8087486	NB4	blood:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8097226..8098995-chr4:8106673..8109329,2	K562	blood:
2	chr4:8033575..8035551-chr4:8063220..8065289,2	K562	blood:
3	chr4:8085902..8087976-chr4:8097347..8099641,2	MCF-7	breast:
4	chr4:8034585..8036214-chr4:8037779..8039313,2	MCF-7	breast:
5	chr4:8034679..8036492-chr4:8044258..8047037,2	K562	blood:
6	chr4:8027811..8029629-chr4:8031244..8032843,2	K562	blood:
7	chr4:8019333..8020892-chr4:8033325..8035259,2	MCF-7	breast:
8	chr4:8039157..8040706-chr4:8050002..8052437,2	K562	blood:
9	chr4:8030886..8034532-chr4:8039153..8041983,3	MCF-7	breast:
10	chr4:8073521..8075555-chr4:8076580..8078200,2	MCF-7	breast:
11	chr4:8039157..8040706-chr4:8050002..8052437,2	K562	blood:
12	chr4:8055317..8057478-chr4:8062900..8065450,3	MCF-7	breast:
13	chr4:8019469..8024052-chr4:8025659..8029825,5	MCF-7	breast:
14	chr4:8094362..8096472-chr4:8096849..8099675,2	MCF-7	breast:
15	chr4:8085902..8087976-chr4:8097347..8099641,2	MCF-7	breast:
16	chr4:8055317..8057478-chr4:8062900..8065450,3	MCF-7	breast:
17	chr4:8048107..8050691-chr4:8051962..8053661,2	K562	blood:
18	chr4:8021662..8023195-chr4:8024850..8026832,2	K562	blood:
19	chr4:8072811..8078672-chr4:8079425..8083106,5	MCF-7	breast:
20	chr4:8048107..8050691-chr4:8051962..8053661,2	K562	blood:
21	chr4:8098463..8100832-chr4:8106304..8108910,3	MCF-7	breast:
22	chr4:8094362..8096472-chr4:8096849..8099675,2	MCF-7	breast:
23	chr4:8021380..8023890-chr4:8026077..8027621,2	MCF-7	breast:
24	chr4:8030441..8032567-chr4:8033404..8037009,3	K562	blood:
25	chr4:8030441..8032567-chr4:8033404..8037009,3	K562	blood:
26	chr4:8034585..8036214-chr4:8037779..8039313,2	MCF-7	breast:
27	chr4:8033575..8035551-chr4:8063220..8065289,2	K562	blood:
28	chr4:8034679..8036492-chr4:8044258..8047037,2	K562	blood:
29	chr4:8020482..8023593-chr4:8027718..8031223,3	MCF-7	breast:
30	chr4:8020577..8022876-chr4:8022955..8025277,2	MCF-7	breast:
31	chr4:8027811..8029629-chr4:8031244..8032843,2	K562	blood:
32	chr4:8020577..8022876-chr4:8022955..8025277,2	MCF-7	breast:
33	chr4:8024330..8026063-chr4:8034890..8037450,2	MCF-7	breast:
34	chr4:8005982..8008973-chr4:8021942..8023511,2	MCF-7	breast:
35	chr4:8030886..8034532-chr4:8039153..8041983,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3TC1-2	chr4:8068255-8068448	ENSG00000251460.1
2	lnc-SH3TC1-2	chr4:8068787-8069451	ENSG00000251460.1
3	lnc-AC097381.1.1-1	chr4:8024392-8024853	ENSG00000273267.1

No data

Variant related genes	Relation type
ABLIM2	TF binding region
ENSG00000273267	TF binding region
ENSG00000251460	TF binding region
ABLIM2	CpG island
ENSG00000273267	CpG island
ENSG00000251460	CpG island
ENSG00000207807	chromatin interactions
ENSG00000163995	chromatin interactions
ENSG00000273267	chromatin interactions

Extended variants
information (count: 4174 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:4174 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13131680	chr4:8021592-8021593	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573269117	chr4:8021646-8021647	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116268418	chr4:8021647-8021648	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575545592	chr4:8021661-8021662	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546560252	chr4:8021741-8021742	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78401520	chr4:8021743-8021744	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113467436	chr4:8021777-8021778	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78934642	chr4:8021782-8021783	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs398082846	chr4:8021783-8021784	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188589117	chr4:8021792-8021793	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562105934	chr4:8021816-8021817	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116762978	chr4:8021823-8021824	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375184743	chr4:8021830-8021831	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563177203	chr4:8021845-8021846	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541536110	chr4:8021868-8021869	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563345361	chr4:8021876-8021877	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374237575	chr4:8021892-8021893	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181083142	chr4:8021900-8021901	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370977309	chr4:8021913-8021914	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375924609	chr4:8021919-8021920	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570419427	chr4:8021933-8021934	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368630237	chr4:8021935-8021936	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371630767	chr4:8021946-8021947	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs528342892	chr4:8021947-8021948	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs199573222	chr4:8021966-8021967	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs546789510	chr4:8021970-8021971	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs187056157	chr4:8021976-8021977	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200453072	chr4:8021988-8021989	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs375921912	chr4:8021995-8021996	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs267600274	chr4:8021997-8021998	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200296927	chr4:8022016-8022017	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200662011	chr4:8022038-8022039	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375330500	chr4:8022039-8022040	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs201934782	chr4:8022045-8022046	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189905844	chr4:8022071-8022072	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201982471	chr4:8022079-8022080	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs573592370	chr4:8022080-8022081	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs540910470	chr4:8022156-8022157	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs182529214	chr4:8022161-8022162	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs560552402	chr4:8022173-8022174	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs574146735	chr4:8022191-8022192	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs541951820	chr4:8022201-8022202	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs563250488	chr4:8022225-8022226	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs530477946	chr4:8022267-8022268	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs78865789	chr4:8022294-8022295	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs563705613	chr4:8022301-8022302	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528404199	chr4:8022332-8022333	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs571735517	chr4:8022333-8022334	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs568285341	chr4:8022427-8022428	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs115542281	chr4:8022462-8022463	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:1195 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8007800-8022000	Weak transcription	Esophagus	oesophagus
2	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
3	chr4:8012400-8039000	Weak transcription	Gastric	stomach
4	chr4:8012800-8035000	Weak transcription	Pancreas	Pancrea
5	chr4:8013000-8036600	Weak transcription	Right Ventricle	heart
6	chr4:8014800-8031400	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:8016400-8027400	Weak transcription	Aorta	Aorta
8	chr4:8016600-8021600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:8017400-8040400	Weak transcription	Right Atrium	heart
10	chr4:8018800-8027200	Weak transcription	Psoas Muscle	Psoas
11	chr4:8020000-8022200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:8020000-8031400	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:8020800-8024000	Strong transcription	Spleen	Spleen
14	chr4:8021000-8022200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr4:8021000-8022400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:8021000-8022400	Active TSS	Brain Angular Gyrus	brain
17	chr4:8021200-8021600	Enhancers	Stomach Mucosa	stomach
18	chr4:8021200-8021800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:8021200-8021800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:8021200-8022000	Active TSS	Brain Substantia Nigra	brain
21	chr4:8021200-8022000	Bivalent Enhancer	NHEK	skin
22	chr4:8021200-8022200	Active TSS	Brain Cingulate Gyrus	brain
23	chr4:8021400-8021600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:8021400-8021600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr4:8021400-8021800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:8021400-8021800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:8021400-8022000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:8021400-8022200	Active TSS	Brain Anterior Caudate	brain
29	chr4:8021400-8022200	Active TSS	Brain Hippocampus Middle	brain
30	chr4:8021400-8022200	Enhancers	Fetal Brain Female	brain
31	chr4:8021400-8022200	Enhancers	Fetal Intestine Small	intestine
32	chr4:8021400-8023200	Enhancers	Brain Germinal Matrix	brain
33	chr4:8021400-8023400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:8021600-8021800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:8021600-8021800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:8021600-8021800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:8021600-8021800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr4:8021600-8021800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr4:8021600-8021800	Flanking Active TSS	Stomach Mucosa	stomach
40	chr4:8021600-8022000	Enhancers	Fetal Intestine Large	intestine
41	chr4:8021600-8022000	Enhancers	Fetal Lung	lung
42	chr4:8021600-8022200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr4:8021600-8022400	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr4:8021800-8022000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:8021800-8022000	Enhancers	Lung	lung
46	chr4:8021800-8022000	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr4:8021800-8022000	Enhancers	Stomach Mucosa	stomach
48	chr4:8021800-8022200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:8021800-8022200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:8021800-8022200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin

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