Variant report

Variant	rs6994297
Chromosome Location	chr8:120779425-120779426
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	POLR2A	chr8:120779185-120779658	K562	blood:	n/a	n/a

Variant related genes	Relation type
TAF2	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10089416	0.87[EUR][1000 genomes]
rs10101391	0.81[EUR][1000 genomes]
rs10106425	0.81[EUR][1000 genomes]
rs10110853	0.82[EUR][1000 genomes]
rs10505373	0.81[EUR][1000 genomes]
rs11552092	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1433949	0.86[EUR][1000 genomes]
rs16892875	0.85[EUR][1000 genomes]
rs16893014	0.86[EUR][1000 genomes]
rs16893117	0.91[EUR][1000 genomes]
rs16893176	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16893201	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2164021	0.84[EUR][1000 genomes]
rs55834530	0.87[EUR][1000 genomes]
rs56116632	0.91[EUR][1000 genomes]
rs56168312	0.91[EUR][1000 genomes]
rs56285268	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56369293	0.91[EUR][1000 genomes]
rs56712359	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs57094219	0.91[EUR][1000 genomes]
rs57423283	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60576513	0.91[EUR][1000 genomes]
rs60762762	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs61585800	0.91[EUR][1000 genomes]
rs6469842	0.89[EUR][1000 genomes]
rs6469843	0.89[EUR][1000 genomes]
rs6469847	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469848	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6989251	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6995449	0.91[EUR][1000 genomes]
rs6996373	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73702609	1.00[EUR][1000 genomes]
rs73702610	0.89[EUR][1000 genomes]
rs73702612	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73713100	0.91[EUR][1000 genomes]
rs73713102	0.91[EUR][1000 genomes]
rs7827756	0.91[EUR][1000 genomes]
rs7831321	0.89[EUR][1000 genomes]
rs7833407	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7835482	0.91[EUR][1000 genomes]
rs7839841	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843034	0.89[EUR][1000 genomes]
rs956748	0.88[EUR][1000 genomes]
rs956749	0.84[AFR][1000 genomes];0.91[EUR][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6994297	TAF2	cis	lung	GTEx
rs6994297	TAF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120719400-120779600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:120734600-120779600	Weak transcription	Gastric	stomach
3	chr8:120736600-120779600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:120736600-120779800	Weak transcription	Aorta	Aorta
5	chr8:120736600-120779800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:120737800-120779600	Weak transcription	Lung	lung
7	chr8:120741000-120779600	Weak transcription	Pancreas	Pancrea
8	chr8:120742200-120780800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:120742400-120782600	Weak transcription	Fetal Heart	heart
10	chr8:120742600-120812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:120744000-120814600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:120750800-120779600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:120750800-120780200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:120757400-120779600	Weak transcription	Brain Angular Gyrus	brain
16	chr8:120757400-120779600	Weak transcription	Brain Anterior Caudate	brain
17	chr8:120757400-120780000	Weak transcription	Ovary	ovary
18	chr8:120757400-120780400	Weak transcription	Fetal Kidney	kidney
19	chr8:120759200-120790600	Weak transcription	Fetal Brain Male	brain
20	chr8:120760200-120779800	Weak transcription	Brain Substantia Nigra	brain
21	chr8:120760600-120804600	Weak transcription	Psoas Muscle	Psoas
22	chr8:120761200-120779600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:120761600-120779800	Weak transcription	NHEK	skin
24	chr8:120761600-120800800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:120766600-120784000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:120767200-120807400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:120768600-120786800	Weak transcription	Small Intestine	intestine
28	chr8:120769400-120779600	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:120769400-120779600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:120770000-120779600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:120770000-120779600	Weak transcription	Brain Germinal Matrix	brain
32	chr8:120770000-120779600	Weak transcription	Colonic Mucosa	Colon
33	chr8:120770400-120779800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:120770400-120787400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:120771000-120789000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:120772200-120779800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:120773000-120780600	Weak transcription	K562	blood
38	chr8:120773400-120788800	Weak transcription	NHDF-Ad	bronchial
39	chr8:120773400-120789400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:120773600-120779600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr8:120773600-120779800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:120773600-120779800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:120773600-120779800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:120773600-120779800	Weak transcription	HMEC	breast
45	chr8:120773600-120780600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:120773600-120780600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:120773600-120795000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:120773800-120779600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:120773800-120779800	Weak transcription	Fetal Brain Female	brain
50	chr8:120773800-120781000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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