Variant report

Variant	rs7947841
Chromosome Location	chr11:34491680-34491681
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	chr11:34485197..34487373-chr11:34489814..34492260,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10768074	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10836214	0.89[CHB][hapmap];0.86[CHD][hapmap]
rs10836219	0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs10836220	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs10836221	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs10836226	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10836227	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10836228	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10836231	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10836232	0.95[CHB][hapmap];0.89[CHD][hapmap];0.80[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10836233	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10836235	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10836250	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11032677	0.87[ASN][1000 genomes]
rs11032685	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11032686	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11032687	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11032688	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11032689	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11032690	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11032691	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11032692	0.85[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11032693	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11032694	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11032697	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032701	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032716	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032717	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11608027	1.00[CEU][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12221624	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12276378	0.85[ASN][1000 genomes]
rs12277763	0.85[ASN][1000 genomes]
rs12285367	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12289239	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs12292102	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12786782	0.85[ASN][1000 genomes]
rs12802066	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12803540	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1408034	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1408036	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1408037	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1408038	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1408039	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1408040	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16930094	0.87[CEU][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes]
rs17881488	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17884666	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17885743	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1980719	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2073059	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2223676	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274044	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2284364	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420387	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34682777	0.85[ASN][1000 genomes]
rs3758730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60077297	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61447308	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6484720	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6484721	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6484722	0.90[YRI][hapmap]
rs7106007	0.87[CEU][hapmap];0.84[MEX][hapmap]
rs7111687	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7111765	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7111903	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7115206	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7117384	0.94[ASN][1000 genomes]
rs7117540	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7118388	0.85[CHB][hapmap]
rs7127109	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7127314	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7127560	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7128380	0.86[CHD][hapmap];1.00[GIH][hapmap]
rs7131159	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7131473	0.88[ASN][1000 genomes]
rs7928156	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7928368	0.89[CHB][hapmap];0.86[CHD][hapmap]
rs7929333	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7929460	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7929574	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7929899	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7929931	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7929952	0.85[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7930070	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7944397	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7947841	CAT	cis	lymphoblastoid	seeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34470800-34494200	Strong transcription	Brain Germinal Matrix	brain
2	chr11:34470800-34495600	Strong transcription	Stomach Smooth Muscle	stomach
3	chr11:34471000-34494000	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr11:34471400-34494000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:34471400-34494600	Strong transcription	Placenta	Placenta
6	chr11:34471400-34495000	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:34471400-34496400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:34471600-34495200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:34471600-34496800	Strong transcription	Duodenum Mucosa	Duodenum
10	chr11:34474000-34496800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:34476200-34495200	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:34477200-34495200	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:34478200-34492800	Strong transcription	Rectal Smooth Muscle	rectum
14	chr11:34482400-34494200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:34482400-34495000	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr11:34483400-34501600	Weak transcription	HMEC	breast
17	chr11:34487400-34494200	Strong transcription	NH-A	brain
18	chr11:34487800-34493800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:34487800-34494000	Strong transcription	HSMM	muscle
20	chr11:34487800-34494000	Strong transcription	Osteobl	bone
21	chr11:34487800-34494200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:34487800-34494200	Weak transcription	Brain Angular Gyrus	brain
23	chr11:34487800-34495000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:34487800-34496600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:34487800-34496600	Strong transcription	Hela-S3	cervix
26	chr11:34487800-34497000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:34488000-34492400	Weak transcription	Stomach Mucosa	stomach
28	chr11:34488000-34496400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:34488600-34494000	Strong transcription	NHDF-Ad	bronchial
30	chr11:34488800-34492000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:34488800-34495200	Strong transcription	Ovary	ovary
32	chr11:34489000-34493200	Strong transcription	NHLF	lung
33	chr11:34489000-34494400	Strong transcription	Fetal Intestine Large	intestine
34	chr11:34489000-34495200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:34489200-34493000	Strong transcription	K562	blood
36	chr11:34489200-34494800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr11:34489200-34495200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:34489200-34495600	Strong transcription	Primary B cells from cord blood	blood
39	chr11:34489400-34494600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr11:34489400-34494800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:34489400-34495200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:34489400-34496400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:34489400-34496600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:34489400-34496800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:34489600-34493200	Strong transcription	Fetal Kidney	kidney
46	chr11:34489600-34494000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:34489600-34494200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:34489600-34494400	Strong transcription	Brain Anterior Caudate	brain
49	chr11:34489600-34494600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr11:34489600-34495000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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