Variant report

Variant	rs2163337
Chromosome Location	chr2:10010331-10010332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1022312	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11686239	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11691885	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12611894	0.81[ASN][1000 genomes]
rs13002884	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs1367385	0.81[YRI][hapmap]
rs16867210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1965411	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2052948	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2245344	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs2303914	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2884175	0.81[AMR][1000 genomes]
rs35390016	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35466574	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35686192	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57046626	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6432041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707700	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6742427	0.85[YRI][hapmap]
rs6748720	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6759700	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv873629	chr2:9949464-10016627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
5	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
6	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv580960	chr2:9993451-10066694	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv873632	chr2:10000978-10045014	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2163337	TAF1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9987200-10038400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:9993800-10079600	Weak transcription	Gastric	stomach
3	chr2:9995800-10038000	Weak transcription	Small Intestine	intestine
4	chr2:9996400-10016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:9998200-10013800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:9998200-10024000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:9998200-10035600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:9998600-10017000	Weak transcription	K562	blood
9	chr2:9998600-10024000	Weak transcription	Pancreas	Pancrea
10	chr2:9998800-10010400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:9998800-10010400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:9998800-10026000	Weak transcription	Fetal Brain Male	brain
13	chr2:9998800-10032200	Weak transcription	Fetal Heart	heart
14	chr2:9998800-10036400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:9999000-10010400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:9999000-10014200	Weak transcription	Aorta	Aorta
17	chr2:9999000-10014800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:9999000-10015200	Weak transcription	Esophagus	oesophagus
19	chr2:9999000-10015400	Weak transcription	HUVEC	blood vessel
20	chr2:9999000-10017600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:9999000-10024000	Weak transcription	Colonic Mucosa	Colon
22	chr2:9999000-10024000	Weak transcription	Spleen	Spleen
23	chr2:9999000-10035800	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:9999000-10035800	Weak transcription	Brain Substantia Nigra	brain
25	chr2:9999000-10037000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:9999000-10037200	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:9999200-10013800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:9999200-10013800	Weak transcription	Left Ventricle	heart
29	chr2:9999200-10017000	Weak transcription	HSMMtube	muscle
30	chr2:9999200-10017600	Weak transcription	Brain Anterior Caudate	brain
31	chr2:9999200-10036200	Weak transcription	Brain Angular Gyrus	brain
32	chr2:9999200-10036400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:9999200-10053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:10000600-10010400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:10000600-10012600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:10000800-10010600	Weak transcription	NHDF-Ad	bronchial
37	chr2:10000800-10011600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:10000800-10014000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:10000800-10014800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:10001000-10011600	Weak transcription	NH-A	brain
41	chr2:10001000-10012600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:10001000-10018400	Weak transcription	NHLF	lung
43	chr2:10001200-10010400	Weak transcription	Fetal Lung	lung
44	chr2:10001200-10013200	Weak transcription	Fetal Kidney	kidney
45	chr2:10001400-10010400	Weak transcription	Thymus	Thymus
46	chr2:10001400-10013000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:10001400-10014400	Weak transcription	Ovary	ovary
48	chr2:10001600-10012000	Weak transcription	Lung	lung
49	chr2:10001600-10013800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:10001600-10014400	Weak transcription	Brain Germinal Matrix	brain

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