Variant report

Variant	rs193043049
Chromosome Location	chr8:11287021-11287022
allele	A/G
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	CTCF	chr8:11286924-11287021	GM12892	blood:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
2	CTCF	chr8:11286804-11287162	K562	blood:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
3	CTCF	chr8:11286900-11287050	NHEK	skin:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
4	CTCF	chr8:11286820-11287110	HAc	cerebellar:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
5	CTCF	chr8:11286920-11287070	K562	blood:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
6	CTCF	chr8:11286920-11287070	HPAF	blood vessel:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
7	CTCF	chr8:11286920-11287070	AG10803	skin:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
8	CTCF	chr8:11286920-11287070	AG04449	skin:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
9	CTCF	chr8:11287000-11287150	GM12878	blood:	n/a	n/a
10	CTCF	chr8:11286857-11287103	NHEK	skin:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
11	CTCF	chr8:11286900-11287050	HCT-116	colon:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
12	CTCF	chr8:11286909-11287065	HUVEC	blood vessel:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
13	CTCFL	chr8:11286898-11287038	K562	blood:	n/a	n/a
14	CTCF	chr8:11286920-11287070	HEK293	kidney:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
15	CTCF	chr8:11286845-11287088	GM12891	blood:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
16	CTCF	chr8:11286920-11287070	HPF	lung:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
17	CTCF	chr8:11286936-11287136	GM12878	blood:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
18	CTCF	chr8:11286785-11287187	HepG2	liver:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
19	SMC3	chr8:11286973-11287081	HepG2	liver:	n/a	chr8:11286976-11286986
20	CTCF	chr8:11286889-11287056	GM19238	blood:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
21	CTCF	chr8:11286960-11287110	GM12872	blood:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
22	CTCF	chr8:11286920-11287070	GM06990	blood:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
23	CTCF	chr8:11286767-11287255	MCF-7	breast:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
24	CTCF	chr8:11286940-11287090	AoAF	blood vessel:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
25	CTCF	chr8:11286800-11287135	K562	blood:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
26	HCFC1	chr8:11286944-11287139	K562	blood:	n/a	n/a
27	CTCF	chr8:11286920-11287070	SAEC	small airway:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
28	CTCF	chr8:11286900-11287050	HPAF	blood vessel:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
29	CTCF	chr8:11286900-11287050	HepG2	liver:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
30	CTCF	chr8:11286974-11287047	LNCaP	prostate:	n/a	chr8:11286974-11286983
31	RAD21	chr8:11286825-11287098	H1-hESC	embryonic stem cell:	n/a	chr8:11286969-11286982 chr8:11286970-11286984 chr8:11286970-11286980
32	GATA2	chr8:11286602-11287320	SH-SY5Y	brain:	n/a	n/a
33	CTCF	chr8:11286915-11287051	Hela-S3	cervix:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
34	CTCF	chr8:11286875-11287078	K562	blood:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
35	CEBPB	chr8:11286825-11287230	MCF-7	breast:	n/a	n/a
36	CTCF	chr8:11286920-11287070	HBMEC	blood vessel:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
37	CTCF	chr8:11286873-11287085	MCF-7	breast:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
38	KAP1	chr8:11286916-11287326	U2OS	brain:	n/a	n/a
39	BHLHE40	chr8:11286896-11287078	K562	blood:	n/a	chr8:11286996-11287012
40	CTCF	chr8:11286837-11287073	H1-hESC	embryonic stem cell:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
41	MYC	chr8:11286905-11287077	MCF10A-Er-Src	breast:	n/a	n/a
42	MAZ	chr8:11286840-11287102	K562	blood:	n/a	n/a
43	CTCF	chr8:11287000-11287150	HMEC	breast:	n/a	n/a
44	CTCF	chr8:11286920-11287070	AG04450	lung:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
45	CTCF	chr8:11286801-11287100	K562	blood:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
46	CTCF	chr8:11286900-11287050	HVMF	connective:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
47	CTCF	chr8:11286900-11287050	GM12866	blood:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
48	CTCF	chr8:11286880-11287030	HFF	foreskin:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
49	CTCF	chr8:11286918-11287050	Medullo	brain:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986
50	CTCF	chr8:11286900-11287050	SK-N-SH_RA	brain:	n/a	chr8:11286974-11286983 chr8:11286968-11286986 chr8:11286970-11286983 chr8:11286973-11286986

No.	Distal block	Cell Line	Cell type
1	chr8:11204194..11206548-chr8:11284736..11287319,2	K562	blood:
2	chr8:11271338..11271849-chr8:11286552..11287065,2	MCF-7	breast:
3	chr8:11286965..11287640-chr8:11410754..11411417,2	MCF-7	breast:
4	chr8:11269226..11269868-chr8:11286430..11287417,2	K562	blood:

Variant related genes	Relation type
C8orf12	TF binding region
ENSG00000154316	Chromatin interaction
ENSG00000255020	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	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
7	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1792231	chr8:11278307-11289053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11269400-11287400	Weak transcription	Right Atrium	heart
2	chr8:11271600-11291000	Weak transcription	Pancreas	Pancrea
3	chr8:11276600-11291200	Weak transcription	Gastric	stomach
4	chr8:11279400-11288000	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr8:11279800-11289600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:11280600-11308800	Weak transcription	Primary B cells from cord blood	blood
7	chr8:11280800-11297600	Weak transcription	Spleen	Spleen
8	chr8:11282200-11287600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:11283800-11287200	Enhancers	Thymus	Thymus
10	chr8:11283800-11288000	Enhancers	Brain Substantia Nigra	brain
11	chr8:11284000-11287400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:11284200-11288400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:11284400-11287400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:11284600-11287600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:11284600-11288000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:11284800-11287600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr8:11284800-11287800	Enhancers	Brain Angular Gyrus	brain
18	chr8:11284800-11288200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:11284800-11288200	Enhancers	Brain Hippocampus Middle	brain
20	chr8:11284800-11288600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:11285000-11287200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:11285400-11287600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:11285800-11287400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr8:11285800-11287400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:11285800-11287800	Enhancers	Fetal Intestine Large	intestine
26	chr8:11285800-11287800	Enhancers	Fetal Intestine Small	intestine
27	chr8:11286000-11295200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:11286200-11287800	Enhancers	Primary T cells from cord blood	blood
29	chr8:11286200-11288000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:11286200-11288000	Enhancers	Fetal Brain Male	brain
31	chr8:11286200-11306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:11286400-11287400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr8:11286400-11287600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr8:11286400-11288200	Weak transcription	Brain Anterior Caudate	brain
35	chr8:11286400-11288400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:11286600-11287400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr8:11286600-11287400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:11286600-11288000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:11286600-11288000	Enhancers	Brain Germinal Matrix	brain
40	chr8:11286600-11288000	Enhancers	Fetal Heart	heart
41	chr8:11286600-11288400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:11286600-11288600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:11286600-11296200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:11286800-11287400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:11286800-11287800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:11286800-11287800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:11286800-11288000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:11286800-11288000	Enhancers	Brain Cingulate Gyrus	brain
49	chr8:11286800-11288400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:11287000-11287200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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