Variant report

Variant	rs2177380
Chromosome Location	chr6:34980601-34980602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34976217..34981550-chr6:34982184..34986897,6	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1018622	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1051115	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs11552398	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11961798	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11964930	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13193526	0.85[ASN][1000 genomes]
rs13196367	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13196785	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs13199238	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13203612	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs13205210	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs13207848	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.92[ASN][1000 genomes]
rs13211490	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13215208	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13216424	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13217848	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs13219307	0.92[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs16871749	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16871809	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16871814	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16895659	0.81[ASN][1000 genomes]
rs16896559	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1747517	1.00[JPT][hapmap]
rs2234044	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2234045	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2296361	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2296362	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2395603	0.81[ASN][1000 genomes]
rs2395610	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2762336	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28360525	0.81[ASN][1000 genomes]
rs34069418	0.80[ASN][1000 genomes]
rs35233923	0.82[ASN][1000 genomes]
rs35285054	0.85[ASN][1000 genomes]
rs35576171	0.95[ASN][1000 genomes]
rs3734261	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs3734266	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs3756856	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs41270044	0.97[ASN][1000 genomes]
rs4646933	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs57844307	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457797	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs6457798	0.81[ASN][1000 genomes]
rs67388064	0.89[ASN][1000 genomes]
rs6906666	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6915649	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6925175	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs728238	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs72896231	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72896254	0.80[ASN][1000 genomes]
rs7739385	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7743949	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7755354	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7761391	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7764126	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7767073	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs820061	0.81[ASN][1000 genomes]
rs820062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs820063	0.81[ASN][1000 genomes]
rs820065	0.92[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs820066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs820067	0.81[ASN][1000 genomes]
rs820069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs820072	0.81[ASN][1000 genomes]
rs820077	0.84[CHB][hapmap]
rs820083	0.81[ASN][1000 genomes]
rs820095	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs820099	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs820101	1.00[JPT][hapmap]
rs820103	0.81[JPT][hapmap]
rs843937	0.80[ASN][1000 genomes]
rs9462027	0.92[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2177380	TAF11	cis	multi-tissue	Pritchard

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34925600-34984800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
3	chr6:34932400-34981800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:34939400-35016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:34960200-34988200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:34961000-34985200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:34961200-34983400	Weak transcription	Fetal Kidney	kidney
8	chr6:34961600-34982200	Weak transcription	Right Ventricle	heart
9	chr6:34962200-34982200	Weak transcription	Hela-S3	cervix
10	chr6:34962200-34984800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:34962800-34983600	Weak transcription	Osteobl	bone
12	chr6:34962800-34985200	Weak transcription	Brain Germinal Matrix	brain
13	chr6:34963000-34982200	Weak transcription	Aorta	Aorta
14	chr6:34963000-34982200	Weak transcription	Pancreas	Pancrea
15	chr6:34963000-34982400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:34963000-34982400	Weak transcription	Fetal Stomach	stomach
17	chr6:34963000-34982600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:34963000-34985000	Weak transcription	Fetal Brain Female	brain
19	chr6:34963000-34985200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:34963000-34985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:34963000-34985600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:34963000-34985600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:34963000-34985600	Weak transcription	NHEK	skin
24	chr6:34963000-34987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:34963000-34989400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:34963200-34982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:34963600-34981600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:34963600-34982000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:34963600-34982000	Weak transcription	Adipose Nuclei	Adipose
30	chr6:34963600-34983400	Weak transcription	Colonic Mucosa	Colon
31	chr6:34963600-34990000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:34963600-35006600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr6:34964200-34985400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr6:34965800-34985400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:34965800-34985400	Weak transcription	HepG2	liver
36	chr6:34966000-34982200	Weak transcription	Left Ventricle	heart
37	chr6:34966000-34985400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr6:34966200-34982400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:34966400-34985000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:34967000-34982200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:34967000-34982200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:34967000-34982200	Weak transcription	Placenta	Placenta
43	chr6:34967000-34982400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:34967000-34983400	Weak transcription	Ovary	ovary
45	chr6:34967000-34984600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr6:34967000-34985200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:34967000-34985200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:34967000-34985200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:34967000-34985200	Weak transcription	Thymus	Thymus
50	chr6:34967200-34982200	Weak transcription	Spleen	Spleen

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