Variant report

Variant	rs2326379
Chromosome Location	chr8:120886921-120886922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:188)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:188 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:120885738-120886995	HL-60	blood:	n/a	n/a
2	BRCA1	chr8:120886457-120887046	Hela-S3	cervix:	n/a	n/a
3	SMC3	chr8:120885464-120887258	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr8:120886725-120886976	GM12891	blood:	n/a	chr8:120886832-120886848
5	SIN3A	chr8:120885693-120887176	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr8:120886379-120887021	HepG2	liver:	n/a	chr8:120886832-120886848
7	RCOR1	chr8:120885607-120886995	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr8:120886674-120886922	SK-N-SH_RA	brain:	n/a	chr8:120886832-120886848
9	CTCF	chr8:120886370-120886975	H1-hESC	embryonic stem cell:	n/a	chr8:120886832-120886848
10	MXI1	chr8:120885617-120886989	HepG2	liver:	n/a	n/a
11	CTCF	chr8:120886840-120886990	GM12865	blood:	n/a	n/a
12	CTCF	chr8:120886374-120887126	MCF-7	breast:	n/a	chr8:120886832-120886848
13	CTCF	chr8:120886456-120887175	MCF-7	breast:	n/a	chr8:120886832-120886848
14	EP300	chr8:120885579-120887328	ECC-1	luminal epithelium:	n/a	n/a
15	TCF7L2	chr8:120885748-120887102	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr8:120886416-120887036	HepG2	liver:	n/a	n/a
17	CTCF	chr8:120886780-120886930	HUVEC	blood vessel:	n/a	chr8:120886832-120886848
18	MAFF	chr8:120886637-120886985	HepG2	liver:	n/a	n/a
19	MYC	chr8:120885699-120887051	Hela-S3	cervix:	n/a	n/a
20	MYC	chr8:120885560-120887207	A549	lung:	n/a	n/a
21	CTCF	chr8:120886735-120886963	H1-hESC	embryonic stem cell:	n/a	chr8:120886832-120886848
22	CTCF	chr8:120886538-120886974	A549	lung:	n/a	chr8:120886832-120886848
23	ZNF143	chr8:120886568-120887211	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr8:120885403-120887346	MCF-7	breast:	n/a	n/a
25	CHD2	chr8:120885624-120887078	Hela-S3	cervix:	n/a	n/a
26	MXI1	chr8:120885969-120887084	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr8:120886245-120887078	H1-hESC	embryonic stem cell:	n/a	chr8:120886832-120886848
28	CTCF	chr8:120886716-120886929	A549	lung:	n/a	chr8:120886832-120886848
29	CTCF	chr8:120886719-120886930	ProgFib	skin:	n/a	chr8:120886832-120886848
30	CTCF	chr8:120886820-120886970	NHDF-neo	bronchial:	n/a	chr8:120886832-120886848
31	MAX	chr8:120885682-120887099	NB4	blood:	n/a	n/a
32	ZNF143	chr8:120885837-120886998	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr8:120886800-120886950	Hela-S3	cervix:	n/a	chr8:120886832-120886848
34	RAD21	chr8:120886694-120886946	GM12878	blood:	n/a	n/a
35	CTCF	chr8:120886780-120886930	HCFaa	heart:	n/a	chr8:120886832-120886848
36	CTCF	chr8:120886658-120886982	Spleen_OC	spleen:	n/a	chr8:120886832-120886848
37	CTCF	chr8:120886780-120886930	HVMF	connective:	n/a	chr8:120886832-120886848
38	RAD21	chr8:120886664-120887045	HepG2	liver:	n/a	n/a
39	CTCF	chr8:120886431-120887045	GM12878	blood:	n/a	chr8:120886832-120886848
40	CTCF	chr8:120886702-120886934	GM13976	blood:	n/a	chr8:120886832-120886848
41	YY1	chr8:120886672-120887011	SK-N-SH_RA	brain:	n/a	n/a
42	ZKSCAN1	chr8:120885926-120887020	Hela-S3	cervix:	n/a	n/a
43	MXI1	chr8:120885679-120887210	IMR90	lung:	n/a	n/a
44	CTCF	chr8:120886780-120886930	GM12869	blood:	n/a	chr8:120886832-120886848
45	CTCF	chr8:120886780-120886930	HMF	breast:	n/a	chr8:120886832-120886848
46	CTCF	chr8:120885542-120887337	HCT-116	colon:	n/a	chr8:120886832-120886848
47	RAD21	chr8:120886447-120887140	HepG2	liver:	n/a	n/a
48	TCF12	chr8:120885663-120887345	ECC-1	luminal epithelium:	n/a	chr8:120887075-120887085 chr8:120886905-120886915
49	CTCF	chr8:120886727-120886965	GM19239	blood:	n/a	chr8:120886832-120886848
50	CTCF	chr8:120886409-120886982	K562	blood:	n/a	chr8:120886832-120886848

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:120886900-120886950	HIPEpiC	eye:	n/a
2	chr8:120886900-120886950	ECC-1	luminal epithelium:	n/a
3	chr8:120886900-120886950	Hela-S3	cervix:	n/a
4	chr8:120886900-120886950	GM19239	blood:	n/a
5	chr8:120886900-120886950	GM12892	blood:	n/a
6	chr8:120886900-120886950	HRPEpiC	eye:	n/a
7	chr8:120886900-120886950	AG04449	skin:	fetal
8	chr8:120886900-120886950	AG04450	lung:	fetal
9	chr8:120886900-120886950	HepG2	liver:	n/a
10	chr8:120886900-120886950	Jurkat	blood:	n/a
11	chr8:120886900-120886950	AoSMC	blood vessel:	n/a
12	chr8:120886900-120886950	MCF-7	breast:	n/a
13	chr8:120886900-120886950	RPTEC	kidney:	n/a
14	chr8:120886900-120886950	MCF10A-Er-Src	breast:	n/a
15	chr8:120886900-120886950	ProgFib	skin:	n/a
16	chr8:120886900-120886950	HCM	heart:	n/a
17	chr8:120886900-120886950	ovcar-3	ovarian:	n/a
18	chr8:120886900-120886950	Caco-2	colon:	n/a
19	chr8:120886900-120886950	LNCaP	prostate:	n/a
20	chr8:120886900-120886950	Hepatocyte	liver:	n/a
21	chr8:120886900-120886950	CMK	blood:	n/a
22	chr8:120886900-120886950	AG09309	skin:	n/a
23	chr8:120886900-120886950	HEK293	kidney:	embryo
24	chr8:120886900-120886950	A549	lung:	n/a
25	chr8:120886900-120886950	HCPEpiC	choroid plexus:	n/a
26	chr8:120886900-120886950	IMR90	lung:	fetal
27	chr8:120886900-120886950	HCF	heart:	n/a
28	chr8:120886900-120886950	HNPCEpiC	eye:	n/a
29	chr8:120886900-120886950	NHDF-neo	bronchial:	n/a
30	chr8:120886900-120886950	GM12891	blood:	n/a
31	chr8:120886900-120886950	BE2_C	brain:	n/a
32	chr8:120886900-120886950	BJ	skin:	n/a
33	chr8:120886900-120886950	HRE	kidney:	n/a
34	chr8:120886900-120886950	HRCEpiC	kidney:	n/a
35	chr8:120886900-120886950	SAEC	small airway:	n/a
36	chr8:120886900-120886950	NB4	blood:	n/a
37	chr8:120886900-120886950	AG09319	gingival:	n/a
38	chr8:120886900-120886950	GM12878	blood:	n/a
39	chr8:120886900-120886950	HL-60	blood:	n/a
40	chr8:120886900-120886950	HEEpiC	esophagus:	n/a
41	chr8:120886900-120886950	T-47D	breast:	n/a
42	chr8:120886900-120886950	U87	brain:	n/a
43	chr8:120886900-120886950	PrEC	prostate:	n/a
44	chr8:120886900-120886950	SK-N-MC	brain:	n/a
45	chr8:120886900-120886950	SKMC	muscle:	n/a
46	chr8:120886900-120886950	HMEC	breast:	n/a
47	chr8:120886900-120886950	NT2-D1	testis:	n/a
48	chr8:120886900-120886950	PFSK-1	brain:	n/a
49	chr8:120886900-120886950	K562	blood:	n/a
50	chr8:120886900-120886950	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr8:120866730..120869816-chr8:120885660..120889126,4	MCF-7	breast:
2	chr8:120866641..120870729-chr8:120883446..120889946,10	MCF-7	breast:
3	chr8:120843931..120845591-chr8:120884671..120887601,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245330	TF binding region
ENSG00000245330	CpG island
ENSG00000136982	Chromatin interaction
ENSG00000064313	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12548715	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893258	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984977	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28571066	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870986	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870988	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870991	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871744	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5022559	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980679	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6981618	0.92[ASN][1000 genomes]
rs6982701	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000669	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7013639	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7018286	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703111	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703112	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703114	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73703115	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7840156	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840728	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955372	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120885400-120887000	Active TSS	Fetal Brain Female	brain
2	chr8:120885400-120887400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr8:120885400-120887800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:120885600-120887000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr8:120885600-120887000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr8:120885600-120887000	Active TSS	Fetal Brain Male	brain
7	chr8:120885600-120887000	Active TSS	Left Ventricle	heart
8	chr8:120885600-120887200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:120885600-120887200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr8:120885600-120887200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr8:120885600-120887200	Active TSS	Right Ventricle	heart
12	chr8:120885600-120887200	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr8:120885600-120887400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr8:120885600-120887400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:120885600-120888200	Active TSS	Brain Hippocampus Middle	brain
16	chr8:120885600-120888200	Active TSS	Psoas Muscle	Psoas
17	chr8:120885600-120888200	Active TSS	Right Atrium	heart
18	chr8:120885600-120889000	Active TSS	Ovary	ovary
19	chr8:120885600-120890000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:120885800-120887000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr8:120885800-120887000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:120885800-120887000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:120885800-120887000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:120885800-120887000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr8:120885800-120887000	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr8:120885800-120887000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:120885800-120887000	Active TSS	Brain Germinal Matrix	brain
28	chr8:120885800-120887000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr8:120885800-120887000	Active TSS	A549	lung
30	chr8:120885800-120887000	Active TSS	HSMM	muscle
31	chr8:120885800-120887000	Active TSS	Osteobl	bone
32	chr8:120885800-120887200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr8:120885800-120887200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:120885800-120887200	Active TSS	Esophagus	oesophagus
35	chr8:120885800-120887200	Active TSS	Pancreas	Pancrea
36	chr8:120885800-120887400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:120885800-120887400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:120885800-120887400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:120885800-120887400	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr8:120885800-120887400	Active TSS	Brain Substantia Nigra	brain
41	chr8:120885800-120887400	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr8:120885800-120887400	Active TSS	Fetal Intestine Small	intestine
43	chr8:120885800-120887400	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr8:120885800-120887400	Active TSS	Stomach Mucosa	stomach
45	chr8:120885800-120887400	Active TSS	HSMMtube	muscle
46	chr8:120885800-120887600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr8:120885800-120888000	Active TSS	Duodenum Mucosa	Duodenum
48	chr8:120885800-120888200	Active TSS	Fetal Intestine Large	intestine
49	chr8:120885800-120888200	Active TSS	Fetal Kidney	kidney
50	chr8:120885800-120888400	Active TSS	Brain Angular Gyrus	brain

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