Variant report

Variant	rs7843987
Chromosome Location	chr8:11422130-11422131
allele	C/T
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	PAX5	chr8:11422038-11422259	GM12878	blood:	n/a	n/a
2	CTCF	chr8:11422000-11422375	ECC-1	luminal epithelium:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
3	HCFC1	chr8:11422106-11422396	K562	blood:	n/a	n/a
4	MAX	chr8:11422035-11422420	Hela-S3	cervix:	n/a	n/a
5	RUNX3	chr8:11421928-11422464	GM12878	blood:	n/a	n/a
6	USF2	chr8:11422019-11422773	GM12878	blood:	n/a	chr8:11422228-11422244
7	E2F6	chr8:11421833-11422586	A549	lung:	n/a	chr8:11422166-11422175 chr8:11422284-11422299
8	MXI1	chr8:11422025-11422432	HepG2	liver:	n/a	n/a
9	ATF2	chr8:11421419-11423115	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:11420963-11422504	GM12878	blood:	n/a	n/a
11	CTCF	chr8:11421790-11422375	MCF-7	breast:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
12	MXI1	chr8:11422048-11422435	GM12878	blood:	n/a	n/a
13	CTCF	chr8:11422079-11422366	ECC-1	luminal epithelium:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
14	POLR2A	chr8:11421959-11423860	GM12892	blood:	n/a	n/a
15	MTA3	chr8:11421576-11422484	GM12878	blood:	n/a	n/a
16	BCLAF1	chr8:11421849-11422547	GM12878	blood:	n/a	chr8:11422235-11422243
17	PAX5	chr8:11421989-11422349	GM12878	blood:	n/a	n/a
18	MAX	chr8:11421977-11422474	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr8:11421998-11422426	K562	blood:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
20	RAD21	chr8:11422054-11422331	GM12878	blood:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
21	STAT5A	chr8:11421220-11423792	GM12878	blood:	n/a	chr8:11422161-11422172 chr8:11423050-11423058 chr8:11423608-11423620
22	GABPA	chr8:11422034-11422414	H1-hESC	embryonic stem cell:	n/a	chr8:11422165-11422179
23	POU2F2	chr8:11421939-11422456	GM12891	blood:	n/a	n/a
24	POLR2A	chr8:11420138-11422456	GM12878	blood:	n/a	n/a
25	CTCF	chr8:11422060-11422363	MCF-7	breast:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
26	CTCF	chr8:11422084-11422364	Lung_OC	lung:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
27	CTCF	chr8:11422100-11422250	HAc	cerebellar:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
28	POLR2A	chr8:11421105-11423866	GM12892	blood:	n/a	n/a
29	BCL3	chr8:11421891-11422340	A549	lung:	n/a	chr8:11422235-11422243
30	POLR2A	chr8:11420282-11423813	GM19193	blood:	n/a	n/a
31	MYC	chr8:11422116-11422219	MCF-7	breast:	n/a	n/a
32	NRF1	chr8:11422112-11422204	GM12878	blood:	n/a	chr8:11422165-11422179
33	EP300	chr8:11422081-11422499	ECC-1	luminal epithelium:	n/a	chr8:11422274-11422290 chr8:11422222-11422231
34	RAD21	chr8:11421712-11422558	IMR90	lung:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
35	CTCF	chr8:11422022-11422417	A549	lung:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
36	MYC	chr8:11422036-11422379	MCF10A-Er-Src	breast:	n/a	n/a
37	CTCF	chr8:11422051-11422357	A549	lung:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
38	CTCF	chr8:11422120-11422270	HUVEC	blood vessel:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
39	CTCF	chr8:11422100-11422250	GM12801	blood:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
40	MAZ	chr8:11421969-11422440	GM12878	blood:	n/a	n/a
41	CTCF	chr8:11422100-11422250	HMF	breast:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
42	POLR2A	chr8:11420541-11423799	GM12878	blood:	n/a	n/a
43	HMGN3	chr8:11421998-11422424	K562	blood:	n/a	n/a
44	RAD21	chr8:11422073-11422418	K562	blood:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
45	ZNF263	chr8:11422014-11422448	HEK293-T-REx	kidney:	n/a	n/a
46	BHLHE40	chr8:11421982-11422398	K562	blood:	n/a	chr8:11422228-11422244
47	CTCF	chr8:11422076-11422309	HepG2	liver:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
48	TCF12	chr8:11422008-11422366	GM12878	blood:	n/a	n/a
49	BRCA1	chr8:11422113-11422187	GM12878	blood:	n/a	n/a
50	MAX	chr8:11421381-11422522	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11270794..11271511-chr8:11421638..11422402,4	MCF-7	breast:
2	chr8:11379820..11382247-chr8:11420170..11422972,2	MCF-7	breast:
3	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:
4	chr8:11266732..11267234-chr8:11421696..11422273,2	K562	blood:
5	chr8:11421685..11422256-chr8:11800840..11801381,2	K562	blood:
6	chr8:11421781..11422781-chr8:11603539..11604516,9	K562	blood:
7	chr8:11421778..11422656-chr8:11816114..11817045,3	MCF-7	breast:
8	chr8:11421707..11422824-chr8:11816126..11817083,9	K562	blood:
9	chr8:11421842..11422772-chr8:11603355..11604431,7	MCF-7	breast:
10	chr8:11421719..11422643-chr8:11446645..11447610,4	K562	blood:

Variant related genes	Relation type
ENSG00000255354	TF binding region
ENSG00000269954	Chromatin interaction
ENSG00000255518	Chromatin interaction
ENSG00000254774	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10098664	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1042701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783065	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985709	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991139	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12541800	0.85[EUR][1000 genomes]
rs12549144	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12549150	0.85[EUR][1000 genomes]
rs13280813	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1382563	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17153454	0.84[ASN][1000 genomes]
rs2127127	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2409798	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2409799	0.82[EUR][1000 genomes]
rs2898290	0.82[EUR][1000 genomes]
rs34190028	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35181953	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35558344	0.81[EUR][1000 genomes]
rs36048422	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841559	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841564	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841567	0.82[AMR][1000 genomes]
rs6983727	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7464263	0.82[EUR][1000 genomes]
rs7831039	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9650661	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv520117	chr8:11391650-11429147	Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv465466	chr8:11391650-11429147	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv610289	chr8:11391650-11429147	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2761407	chr8:11392880-11429147	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1029589	chr8:11392880-11429147	ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv523827	chr8:11408401-11486220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1032195	chr8:11420541-11480692	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7843987	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs7843987	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11420800-11422400	Weak transcription	Dnd41	blood
2	chr8:11421000-11422200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:11421000-11422600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:11421200-11422200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:11421200-11422400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:11421200-11422600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr8:11421200-11422600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:11421200-11422600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:11421200-11422800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:11421200-11422800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:11421400-11422200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr8:11421400-11422200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:11421400-11422200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:11421400-11422200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:11421400-11422200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr8:11421400-11422200	Flanking Bivalent TSS/Enh	Thymus	Thymus
17	chr8:11421400-11422400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:11421400-11422400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:11421400-11422400	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr8:11421400-11422400	Flanking Active TSS	Pancreas	Pancrea
21	chr8:11421400-11422400	Bivalent/Poised TSS	HepG2	liver
22	chr8:11421400-11422400	Flanking Bivalent TSS/Enh	NHEK	skin
23	chr8:11421400-11422600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:11421400-11422600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr8:11421400-11422600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr8:11421400-11422600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:11421400-11422600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:11421400-11422600	Bivalent Enhancer	Fetal Brain Male	brain
29	chr8:11421400-11422600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
30	chr8:11421400-11422600	Active TSS	Right Atrium	heart
31	chr8:11421400-11422800	Bivalent Enhancer	Liver	Liver
32	chr8:11421400-11422800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
33	chr8:11421400-11423000	Bivalent Enhancer	Esophagus	oesophagus
34	chr8:11421400-11423000	Enhancers	Fetal Heart	heart
35	chr8:11421600-11422200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:11421600-11422200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:11421600-11422200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
38	chr8:11421600-11422200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr8:11421600-11422200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:11421600-11422200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
41	chr8:11421600-11422200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr8:11421600-11422200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
43	chr8:11421600-11422200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
44	chr8:11421600-11422200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
45	chr8:11421600-11422200	Flanking Active TSS	Left Ventricle	heart
46	chr8:11421600-11422200	Flanking Active TSS	Right Ventricle	heart
47	chr8:11421600-11422200	Flanking Bivalent TSS/Enh	HMEC	breast
48	chr8:11421600-11422200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
49	chr8:11421600-11422200	Flanking Bivalent TSS/Enh	NH-A	brain
50	chr8:11421600-11422400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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