Variant report

Variant	nsv878580
Chromosome Location	chr4:8012167-8045469
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	ARID3A	chr4:8015202-8015414	HepG2	liver:	n/a	n/a
2	BCL3	chr4:8039082-8039561	GM12878	blood:	n/a	n/a
3	BCL3	chr4:8029834-8030570	GM12878	blood:	n/a	n/a
4	BCL3	chr4:8038912-8039504	GM12878	blood:	n/a	n/a
5	BCL3	chr4:8029949-8030517	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:8023530-8024019	HepG2	liver:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
7	BHLHE40	chr4:8042424-8042710	K562	blood:	n/a	n/a
8	BHLHE40	chr4:8023560-8023959	K562	blood:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
9	BHLHE40	chr4:8023583-8023853	HepG2	liver:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
10	BHLHE40	chr4:8042425-8042692	HepG2	liver:	n/a	n/a
11	BHLHE40	chr4:8023654-8023855	HepG2	liver:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
12	BHLHE40	chr4:8023606-8023917	A549	lung:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
13	BRCA1	chr4:8030194-8030478	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr4:8034949-8035108	HepG2	liver:	n/a	n/a
15	CTCF	chr4:8023700-8023781	GM12891	blood:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
16	CTCF	chr4:8037260-8037410	HAc	cerebellar:	n/a	n/a
17	CTCF	chr4:8023620-8023770	BE2_C	brain:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
18	CTCF	chr4:8037280-8037430	HA-sp	spinal cord:	n/a	n/a
19	CTCF	chr4:8023640-8023790	HBMEC	blood vessel:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
20	CTCF	chr4:8017300-8017450	GM12870	blood:	n/a	n/a
21	CTCF	chr4:8017195-8017813	A549	lung:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
22	CTCF	chr4:8017400-8017550	NHDF-neo	bronchial:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
23	CTCF	chr4:8017429-8017470	LNCaP	prostate:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
24	CTCF	chr4:8037280-8037430	HMEC	breast:	n/a	n/a
25	CTCF	chr4:8023656-8023820	MCF-7	breast:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
26	CTCF	chr4:8017193-8017621	MCF-7	breast:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
27	CTCF	chr4:8017420-8017570	HBMEC	blood vessel:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
28	CTCF	chr4:8017380-8017530	GM12878	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
29	CTCF	chr4:8017436-8017518	GM20000	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
30	CTCF	chr4:8023660-8023810	A549	lung:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
31	CTCF	chr4:8017360-8017510	AG04450	lung:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
32	CTCF	chr4:8023680-8023830	MCF-7	breast:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
33	CTCF	chr4:8017440-8017590	HA-sp	spinal cord:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
34	CTCF	chr4:8017318-8017567	NHEK	skin:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
35	CTCF	chr4:8023640-8023790	SK-N-SH_RA	brain:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
36	CTCF	chr4:8023509-8023890	K562	blood:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
37	CTCF	chr4:8017400-8017550	GM12868	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
38	CTCF	chr4:8017360-8017510	GM12869	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
39	CTCF	chr4:8017328-8017523	A549	lung:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
40	CTCF	chr4:8017360-8017510	K562	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
41	CTCF	chr4:8017400-8017550	GM12869	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
42	CTCF	chr4:8017380-8017530	AG10803	skin:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
43	CTCF	chr4:8023680-8023830	K562	blood:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
44	CTCF	chr4:8017360-8017510	NHEK	skin:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
45	CTCF	chr4:8017307-8017615	A549	lung:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
46	CTCF	chr4:8032220-8032370	HMEC	breast:	n/a	n/a
47	CTCF	chr4:8017323-8017560	GM19239	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
48	CTCF	chr4:8017380-8017530	GM12873	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
49	CTCF	chr4:8017387-8017556	LNCaP	prostate:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
50	CTCF	chr4:8023640-8023819	Gliobla	brain:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8012176-8012226	HCM	heart:	n/a
2	chr4:8012176-8012226	HCM	heart:	n/a
3	chr4:8024970-8025020	LNCaP	prostate:	n/a
4	chr4:8022071-8022121	GM06990	blood:	n/a
5	chr4:8037325-8037375	ProgFib	skin:	n/a
6	chr4:8012170-8012220	RPTEC	kidney:	n/a
7	chr4:8012338-8012388	HPAEpiC	pulmonary alveolar:	n/a
8	chr4:8022071-8022121	MCF-7	breast:	n/a
9	chr4:8034100-8034150	LNCaP	prostate:	n/a
10	chr4:8023314-8023364	AoSMC	blood vessel:	n/a
11	chr4:8012176-8012226	T-47D	breast:	n/a
12	chr4:8024970-8025020	HPAEpiC	pulmonary alveolar:	n/a
13	chr4:8012170-8012220	GM12878	blood:	n/a
14	chr4:8022071-8022121	IMR90	lung:	fetal
15	chr4:8023314-8023364	T-47D	breast:	n/a
16	chr4:8034100-8034150	PFSK-1	brain:	n/a
17	chr4:8034100-8034150	HCM	heart:	n/a
18	chr4:8025157-8025207	BE2_C	brain:	n/a
19	chr4:8025157-8025207	HIPEpiC	eye:	n/a
20	chr4:8012170-8012220	LNCaP	prostate:	n/a
21	chr4:8034335-8034385	HEEpiC	esophagus:	n/a
22	chr4:8034335-8034385	PANC-1	pancreas:	n/a
23	chr4:8024970-8025020	RPTEC	kidney:	n/a
24	chr4:8022191-8022241	GM12892	blood:	n/a
25	chr4:8025039-8025089	BJ	skin:	n/a
26	chr4:8025039-8025089	HIPEpiC	eye:	n/a
27	chr4:8012338-8012388	HRPEpiC	eye:	n/a
28	chr4:8012338-8012388	GM12892	blood:	n/a
29	chr4:8023314-8023364	HRE	kidney:	n/a
30	chr4:8022647-8022697	GM12878	blood:	n/a
31	chr4:8034335-8034385	LNCaP	prostate:	n/a
32	chr4:8023314-8023364	HL-60	blood:	n/a
33	chr4:8025157-8025207	ECC-1	luminal epithelium:	n/a
34	chr4:8022647-8022697	BJ	skin:	n/a
35	chr4:8022647-8022697	MCF10A-Er-Src	breast:	n/a
36	chr4:8022191-8022241	GM06990	blood:	n/a
37	chr4:8023314-8023364	HRCEpiC	kidney:	n/a
38	chr4:8022071-8022121	GM12892	blood:	n/a
39	chr4:8022191-8022241	HCM	heart:	n/a
40	chr4:8022191-8022241	A549	lung:	n/a
41	chr4:8025157-8025207	AoSMC	blood vessel:	n/a
42	chr4:8012170-8012220	Caco-2	colon:	n/a
43	chr4:8034100-8034150	HRE	kidney:	n/a
44	chr4:8022647-8022697	AG04449	skin:	fetal
45	chr4:8022071-8022121	PrEC	prostate:	n/a
46	chr4:8025157-8025207	MCF10A-Er-Src	breast:	n/a
47	chr4:8034100-8034150	GM06990	blood:	n/a
48	chr4:8023314-8023364	MCF10A-Er-Src	breast:	n/a
49	chr4:8022647-8022697	HAEpiC	amniotic membrane:	n/a
50	chr4:8022647-8022697	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8012081..8014539-chr4:8181803..8184689,2	MCF-7	breast:
2	chr4:8034585..8036214-chr4:8037779..8039313,2	MCF-7	breast:
3	chr4:8039157..8040706-chr4:8050002..8052437,2	K562	blood:
4	chr4:8021662..8023195-chr4:8024850..8026832,2	K562	blood:
5	chr4:8020577..8022876-chr4:8022955..8025277,2	MCF-7	breast:
6	chr4:8027811..8029629-chr4:8031244..8032843,2	K562	blood:
7	chr4:8018368..8020892-chr4:8193998..8196693,2	MCF-7	breast:
8	chr4:8020482..8023593-chr4:8027718..8031223,3	MCF-7	breast:
9	chr4:7806581..7808350-chr4:8014117..8016969,2	MCF-7	breast:
10	chr4:8030886..8034532-chr4:8039153..8041983,3	MCF-7	breast:
11	chr4:8034679..8036492-chr4:8044258..8047037,2	K562	blood:
12	chr4:8027811..8029629-chr4:8031244..8032843,2	K562	blood:
13	chr4:8030441..8032567-chr4:8033404..8037009,3	K562	blood:
14	chr4:8024330..8026063-chr4:8034890..8037450,2	MCF-7	breast:
15	chr4:8033575..8035551-chr4:8063220..8065289,2	K562	blood:
16	chr4:8034679..8036492-chr4:8044258..8047037,2	K562	blood:
17	chr4:8010549..8013610-chr4:8014316..8016404,3	MCF-7	breast:
18	chr4:8020577..8022876-chr4:8022955..8025277,2	MCF-7	breast:
19	chr4:8019333..8020892-chr4:8033325..8035259,2	MCF-7	breast:
20	chr4:8005982..8008973-chr4:8021942..8023511,2	MCF-7	breast:
21	chr4:8019333..8020892-chr4:8033325..8035259,2	MCF-7	breast:
22	chr4:8030886..8034532-chr4:8039153..8041983,3	MCF-7	breast:
23	chr4:8030441..8032567-chr4:8033404..8037009,3	K562	blood:
24	chr4:8019469..8024052-chr4:8025659..8029825,5	MCF-7	breast:
25	chr4:8021380..8023890-chr4:8026077..8027621,2	MCF-7	breast:
26	chr4:8034585..8036214-chr4:8037779..8039313,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC097381.1.1-1	chr4:8024392-8024853	ENSG00000273267.1

Variant related genes	Relation type
ENSG00000273267	TF binding region
ABLIM2	TF binding region
ENSG00000273267	CpG island
ABLIM2	CpG island
ENSG00000125089	chromatin interactions
ENSG00000273267	chromatin interactions
ENSG00000163995	chromatin interactions
ENSG00000207807	chromatin interactions

Extended variants
information (count: 1752 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1752 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16841559	chr4:8012167-8012168	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546244882	chr4:8012168-8012169	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564357781	chr4:8012182-8012183	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183172851	chr4:8012197-8012198	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139311099	chr4:8012223-8012224	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528942988	chr4:8012286-8012287	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186534395	chr4:8012302-8012303	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376320488	chr4:8012309-8012310	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572269492	chr4:8012316-8012317	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs28540402	chr4:8012317-8012318	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs28439020	chr4:8012322-8012323	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552231572	chr4:8012327-8012328	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149970957	chr4:8012339-8012340	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534608107	chr4:8012350-8012351	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146066068	chr4:8012353-8012354	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs59795306	chr4:8012426-8012427	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535338281	chr4:8012436-8012437	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556753976	chr4:8012463-8012464	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575081236	chr4:8012503-8012504	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs546009102	chr4:8012508-8012509	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs558231378	chr4:8012511-8012512	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573199068	chr4:8012512-8012513	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs540633662	chr4:8012539-8012540	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs74653659	chr4:8012545-8012546	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529633607	chr4:8012559-8012560	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs544883432	chr4:8012570-8012571	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs563107042	chr4:8012581-8012582	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs140163324	chr4:8012590-8012591	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs117687298	chr4:8012606-8012607	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs564199080	chr4:8012639-8012640	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs528133103	chr4:8012660-8012661	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs6837516	chr4:8012665-8012666	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190988718	chr4:8012668-8012669	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541974740	chr4:8012694-8012695	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs535395205	chr4:8012723-8012724	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs560255402	chr4:8012741-8012742	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs550439809	chr4:8012759-8012760	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs569003804	chr4:8012783-8012784	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs539613046	chr4:8012788-8012789	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570889826	chr4:8012800-8012801	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs10023553	chr4:8012803-8012804	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533817271	chr4:8012805-8012806	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs555811902	chr4:8012824-8012825	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574065124	chr4:8012839-8012840	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs368438208	chr4:8012907-8012908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs145149975	chr4:8012924-8012925	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs142949455	chr4:8013014-8013015	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs183708657	chr4:8013031-8013032	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs187249320	chr4:8013052-8013053	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs578139015	chr4:8013071-8013072	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8005200-8012200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:8007200-8018000	Weak transcription	Psoas Muscle	Psoas
3	chr4:8007800-8012200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:8007800-8022000	Weak transcription	Esophagus	oesophagus
5	chr4:8008600-8012400	Weak transcription	Right Ventricle	heart
6	chr4:8009000-8012400	Strong transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:8009200-8012200	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:8009400-8012400	Weak transcription	Adipose Nuclei	Adipose
9	chr4:8010400-8015400	Weak transcription	Aorta	Aorta
10	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
11	chr4:8011200-8012400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:8011200-8018200	Weak transcription	Spleen	Spleen
13	chr4:8011400-8012200	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:8011400-8012400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr4:8011400-8012400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr4:8011400-8012600	Enhancers	Fetal Muscle Trunk	muscle
17	chr4:8011400-8012800	Enhancers	Pancreas	Pancrea
18	chr4:8011400-8013200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:8011400-8013400	Enhancers	Fetal Brain Male	brain
20	chr4:8011400-8013400	Enhancers	Fetal Muscle Leg	muscle
21	chr4:8011400-8013400	Enhancers	Fetal Stomach	stomach
22	chr4:8011600-8012200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:8011600-8012400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr4:8011600-8012400	Flanking Active TSS	HepG2	liver
25	chr4:8011600-8012600	Enhancers	Duodenum Mucosa	Duodenum
26	chr4:8011600-8012800	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr4:8011600-8013000	Enhancers	Brain Angular Gyrus	brain
28	chr4:8011600-8013200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:8011600-8013200	Enhancers	Fetal Intestine Large	intestine
30	chr4:8011800-8012200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:8011800-8012200	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr4:8011800-8012200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr4:8011800-8012200	Enhancers	Fetal Kidney	kidney
34	chr4:8011800-8012200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr4:8011800-8012400	Flanking Active TSS	Fetal Lung	lung
36	chr4:8011800-8012600	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr4:8011800-8012600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr4:8011800-8012800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:8011800-8013000	Enhancers	Fetal Intestine Small	intestine
40	chr4:8012000-8012400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr4:8012000-8012400	Flanking Active TSS	Fetal Brain Female	brain
42	chr4:8012000-8012400	Enhancers	Gastric	stomach
43	chr4:8012000-8012400	Enhancers	Small Intestine	intestine
44	chr4:8012000-8012600	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr4:8012000-8012600	Enhancers	Colonic Mucosa	Colon
46	chr4:8012000-8012800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:8012000-8012800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:8012000-8013000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:8012000-8013000	Enhancers	Ovary	ovary
50	chr4:8012000-8013000	Weak transcription	Stomach Mucosa	stomach

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