Variant report

Variant	rs6992109
Chromosome Location	chr8:120845911-120845912
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RPC155	chr8:120845321-120846191	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:120844551-120847497	K562	blood:	n/a	n/a
3	POLR2A	chr8:120844531-120845930	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr8:120844613-120846112	HepG2	liver:	n/a	n/a
5	GTF3C2	chr8:120845161-120846111	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr8:120844649-120846047	GM12892	blood:	n/a	n/a
7	POLR2A	chr8:120845876-120846065	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr8:120845760-120846205	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr8:120844640-120846081	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr8:120844575-120846185	GM18505	blood:	n/a	n/a
11	POLR2A	chr8:120844667-120846725	MCF10A-Er-Src	breast:	n/a	n/a
12	CBX3	chr8:120845657-120846124	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120845425..120847415-chr8:120848742..120851022,2	K562	blood:
2	chr8:120845444..120846962-chr8:120866587..120869345,2	K562	blood:
3	chr8:120843501..120846699-chr8:120865917..120869113,7	MCF-7	breast:
4	chr8:120842870..120846971-chr8:120866583..120869973,4	MCF-7	breast:

No data

Variant related genes	Relation type
TAF2	TF binding region
ENSG00000136982	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10088232	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10096486	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10101278	0.82[ASN][1000 genomes]
rs10108071	0.90[ASN][1000 genomes]
rs10109513	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10109718	0.80[ASN][1000 genomes]
rs10109901	0.86[ASN][1000 genomes]
rs10109951	0.86[ASN][1000 genomes]
rs10110061	0.82[ASN][1000 genomes]
rs10110601	0.80[ASN][1000 genomes]
rs10113252	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10113562	0.83[ASN][1000 genomes]
rs10505374	0.90[ASN][1000 genomes]
rs1055130	0.91[ASN][1000 genomes]
rs1055131	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1055133	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985300	0.82[ASN][1000 genomes]
rs12155707	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12542706	0.89[ASN][1000 genomes]
rs12543087	0.80[ASN][1000 genomes]
rs12545479	0.86[ASN][1000 genomes]
rs12707880	0.88[ASN][1000 genomes]
rs13258336	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268676	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13272214	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs14027	0.91[ASN][1000 genomes]
rs1433951	0.80[ASN][1000 genomes]
rs1433952	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1509348	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1567358	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1567359	0.80[ASN][1000 genomes]
rs1960438	0.86[ASN][1000 genomes]
rs1960439	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1976575	0.82[ASN][1000 genomes]
rs2043430	0.80[ASN][1000 genomes]
rs2136375	0.87[ASN][1000 genomes]
rs2634	0.86[ASN][1000 genomes]
rs28486048	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28715681	0.83[ASN][1000 genomes]
rs28736344	0.90[ASN][1000 genomes]
rs28756749	0.83[ASN][1000 genomes]
rs34718068	0.86[ASN][1000 genomes]
rs35019302	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35103910	0.82[ASN][1000 genomes]
rs35148850	0.88[ASN][1000 genomes]
rs35496588	0.88[ASN][1000 genomes]
rs3812463	0.88[ASN][1000 genomes]
rs4870955	0.86[ASN][1000 genomes]
rs4870956	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871595	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871597	0.81[ASN][1000 genomes]
rs4871599	0.80[ASN][1000 genomes]
rs4871629	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871634	0.84[ASN][1000 genomes]
rs4871640	0.86[ASN][1000 genomes]
rs4871642	0.84[ASN][1000 genomes]
rs4871648	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871659	0.88[ASN][1000 genomes]
rs4871660	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6469846	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6469849	0.86[ASN][1000 genomes]
rs6469852	0.86[ASN][1000 genomes]
rs6469853	0.86[ASN][1000 genomes]
rs6469854	0.86[ASN][1000 genomes]
rs67905698	0.82[ASN][1000 genomes]
rs6983932	0.86[ASN][1000 genomes]
rs6989559	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6989791	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6996250	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7001182	0.80[ASN][1000 genomes]
rs7009073	0.81[ASN][1000 genomes]
rs7012857	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7015793	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7017010	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017045	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017279	0.88[ASN][1000 genomes]
rs7813438	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7813651	0.89[ASN][1000 genomes]
rs7813680	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7821501	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7827482	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7829198	0.86[ASN][1000 genomes]
rs7832755	0.84[ASN][1000 genomes]
rs7833112	0.90[ASN][1000 genomes]
rs7833490	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7833706	0.90[ASN][1000 genomes]
rs7837589	0.83[ASN][1000 genomes]
rs7839110	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7843304	0.81[ASN][1000 genomes]
rs9297605	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120843400-120846000	Active TSS	GM12878-XiMat	blood
2	chr8:120843600-120846000	Active TSS	K562	blood
3	chr8:120844000-120846000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:120844000-120846000	Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr8:120844000-120846000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:120844000-120846000	Active TSS	HSMM	muscle
7	chr8:120844000-120846000	Active TSS	NHEK	skin
8	chr8:120844000-120846200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:120844000-120846200	Active TSS	Fetal Brain Female	brain
10	chr8:120844000-120846200	Active TSS	NHLF	lung
11	chr8:120844000-120846400	Active TSS	A549	lung
12	chr8:120844200-120846000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:120844200-120846000	Active TSS	Brain Angular Gyrus	brain
14	chr8:120844200-120846000	Active TSS	Brain Hippocampus Middle	brain
15	chr8:120844200-120846000	Active TSS	Fetal Intestine Small	intestine
16	chr8:120844200-120846000	Active TSS	Rectal Smooth Muscle	rectum
17	chr8:120844200-120846200	Active TSS	Right Atrium	heart
18	chr8:120844200-120846200	Active TSS	Right Ventricle	heart
19	chr8:120844200-120846400	Active TSS	HUVEC	blood vessel
20	chr8:120844400-120846000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:120844400-120846000	Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:120844400-120846000	Active TSS	Colonic Mucosa	Colon
23	chr8:120844400-120846000	Active TSS	HMEC	breast
24	chr8:120844400-120846400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:120844400-120846600	Active TSS	NHDF-Ad	bronchial
26	chr8:120844600-120846400	Active TSS	Fetal Kidney	kidney
27	chr8:120845200-120846200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:120845400-120846000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr8:120845400-120846000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr8:120845400-120846000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr8:120845400-120846200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:120845600-120846000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:120845600-120846000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:120845600-120846000	Flanking Active TSS	Liver	Liver
35	chr8:120845600-120846000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr8:120845600-120846000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr8:120845600-120846000	Enhancers	Fetal Brain Male	brain
38	chr8:120845600-120846000	Flanking Active TSS	Fetal Stomach	stomach
39	chr8:120845600-120846000	Flanking Active TSS	Psoas Muscle	Psoas
40	chr8:120845600-120846000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr8:120845600-120846000	Flanking Active TSS	Dnd41	blood
42	chr8:120845600-120846000	Active TSS	HepG2	liver
43	chr8:120845600-120846200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr8:120845600-120846200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:120845600-120846200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:120845600-120846200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr8:120845600-120846200	Enhancers	Small Intestine	intestine
48	chr8:120845600-120846200	Enhancers	Spleen	Spleen
49	chr8:120845600-120846400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr8:120845600-120846400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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