Variant report

Variant	rs7948607
Chromosome Location	chr11:64387347-64387348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64382022..64384034-chr11:64386590..64389266,3	K562	blood:
2	chr11:64372156..64374370-chr11:64385204..64388133,2	K562	blood:
3	chr11:64386913..64388983-chr11:64393281..64396150,2	K562	blood:
4	chr11:64380600..64384034-chr11:64384345..64388589,5	K562	blood:
5	chr11:64382824..64385370-chr11:64385772..64388101,2	MCF-7	breast:
6	chr11:64384619..64387487-chr11:64396791..64398717,2	MCF-7	breast:
7	chr11:64350444..64353414-chr11:64386038..64388659,2	MCF-7	breast:

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10466694	1.00[EUR][1000 genomes]
rs10732887	1.00[EUR][1000 genomes]
rs10751010	1.00[MEX][hapmap]
rs10751011	1.00[MEX][hapmap]
rs11231806	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11231811	1.00[EUR][1000 genomes]
rs11231812	1.00[EUR][1000 genomes]
rs11231865	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11231866	1.00[EUR][1000 genomes]
rs11821081	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1207462	1.00[MEX][hapmap]
rs1212539	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1212851	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273948	1.00[EUR][1000 genomes]
rs12280878	1.00[TSI][hapmap]
rs12281931	1.00[EUR][1000 genomes]
rs12293573	1.00[EUR][1000 genomes]
rs12294207	1.00[MEX][hapmap]
rs17146100	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146110	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146119	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs17159320	1.00[MEX][hapmap]
rs17159321	1.00[MEX][hapmap]
rs1787671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2022048	1.00[TSI][hapmap]
rs2022049	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs240690	1.00[MEX][hapmap]
rs2518908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2666561	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2666562	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2904961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2959651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3016758	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3016759	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41323046	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs470348	1.00[MEX][hapmap]
rs475704	0.90[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930167	1.00[EUR][1000 genomes]
rs512926	0.82[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs516041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs518698	1.00[EUR][1000 genomes]
rs519106	1.00[MEX][hapmap]
rs520277	1.00[EUR][1000 genomes]
rs534052	0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs534073	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs534221	0.82[MKK][hapmap]
rs535606	0.90[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs541305	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545167	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545819	0.90[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs546323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs547280	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs550930	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs553618	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs558073	1.00[MEX][hapmap]
rs559095	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs559977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56186064	1.00[EUR][1000 genomes]
rs565688	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs573545	0.90[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57371796	1.00[EUR][1000 genomes]
rs579175	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58571986	1.00[EUR][1000 genomes]
rs605597	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6591863	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7110778	1.00[EUR][1000 genomes]
rs7123003	1.00[MEX][hapmap]
rs7127435	1.00[EUR][1000 genomes]
rs73492134	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494206	1.00[EUR][1000 genomes]
rs7927181	1.00[TSI][hapmap]
rs7948832	1.00[EUR][1000 genomes]
rs9326433	1.00[EUR][1000 genomes]
rs9326434	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9666331	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9666856	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
9	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
11	nsv897696	chr11:64365796-64412877	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
14	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7948607	SF1	cis	lymphoblastoid	seeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64373600-64402200	Weak transcription	HSMMtube	muscle
2	chr11:64380000-64396800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:64380800-64390800	Weak transcription	Esophagus	oesophagus
4	chr11:64380800-64396600	Weak transcription	NHDF-Ad	bronchial
5	chr11:64382600-64387400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:64382600-64387400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:64382800-64387400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:64384800-64389400	Weak transcription	HSMM	muscle
9	chr11:64385000-64389600	Weak transcription	Aorta	Aorta
10	chr11:64385200-64387400	Weak transcription	Brain Substantia Nigra	brain
11	chr11:64385200-64389600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:64385600-64389800	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr11:64385600-64389800	Enhancers	Pancreas	Pancrea
14	chr11:64385800-64387400	Enhancers	Liver	Liver
15	chr11:64385800-64389400	Genic enhancers	Fetal Stomach	stomach
16	chr11:64385800-64389800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:64386000-64390800	Enhancers	Fetal Thymus	thymus
18	chr11:64386200-64389000	Enhancers	Stomach Smooth Muscle	stomach
19	chr11:64386200-64389200	Enhancers	Spleen	Spleen
20	chr11:64386200-64389400	Enhancers	Fetal Lung	lung
21	chr11:64386400-64388000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:64386400-64389200	Enhancers	Brain Anterior Caudate	brain
23	chr11:64386400-64389200	Enhancers	Fetal Muscle Leg	muscle
24	chr11:64386600-64388000	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr11:64386600-64388800	Enhancers	Right Atrium	heart
26	chr11:64386600-64389200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr11:64386600-64389800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr11:64386800-64388000	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr11:64386800-64388000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr11:64386800-64388600	Enhancers	Fetal Brain Male	brain
31	chr11:64386800-64389000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:64386800-64389200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
33	chr11:64386800-64389200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:64387000-64387400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr11:64387000-64387400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr11:64387000-64387400	Active TSS	HepG2	liver
37	chr11:64387000-64387600	Enhancers	Lung	lung
38	chr11:64387000-64388000	Genic enhancers	Brain Cingulate Gyrus	brain
39	chr11:64387000-64388000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr11:64387000-64388000	Enhancers	Right Ventricle	heart
41	chr11:64387000-64388000	Genic enhancers	Osteobl	bone
42	chr11:64387000-64388400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr11:64387000-64388400	Enhancers	Adipose Nuclei	Adipose
44	chr11:64387000-64388400	Genic enhancers	Fetal Brain Female	brain
45	chr11:64387000-64388600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:64387000-64388600	Enhancers	Fetal Heart	heart
47	chr11:64387000-64388800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:64387000-64388800	Enhancers	Brain Hippocampus Middle	brain
49	chr11:64387000-64389400	Enhancers	Rectal Smooth Muscle	rectum
50	chr11:64387000-64389800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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