Variant report

Variant	rs7952514
Chromosome Location	chr11:35177847-35177848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12280381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16926995	0.85[CEU][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17367609	1.00[ASN][1000 genomes]
rs17367744	0.98[ASN][1000 genomes]
rs17445923	0.98[ASN][1000 genomes]
rs17445972	0.98[ASN][1000 genomes]
rs1981153	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1981154	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3794118	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3794125	1.00[ASN][1000 genomes]
rs7938811	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952493	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919041	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv541000	chr11:35053717-35185471	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv508623	chr11:35094933-35203363	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv541002	chr11:35101282-35224624	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35161200-35197400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr11:35163400-35178400	Weak transcription	Psoas Muscle	Psoas
3	chr11:35163800-35183400	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr11:35166600-35179000	Weak transcription	HUVEC	blood vessel
5	chr11:35167200-35179400	Weak transcription	Right Ventricle	heart
6	chr11:35167200-35179800	Weak transcription	Fetal Lung	lung
7	chr11:35167400-35179200	Weak transcription	Colonic Mucosa	Colon
8	chr11:35167400-35179200	Weak transcription	Gastric	stomach
9	chr11:35167400-35185800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr11:35167600-35179200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:35167600-35184200	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr11:35167600-35186200	Genic enhancers	NHDF-Ad	bronchial
13	chr11:35167600-35186400	Genic enhancers	HMEC	breast
14	chr11:35167800-35178800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:35167800-35185800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:35168200-35179200	Genic enhancers	NHEK	skin
17	chr11:35168800-35179000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr11:35169000-35179200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:35169000-35179400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:35169200-35179600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:35169800-35179200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:35171200-35179400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:35172200-35179000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr11:35172200-35196000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:35172400-35179400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:35172600-35179600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:35173400-35178000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
28	chr11:35173400-35180600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:35173600-35178000	Strong transcription	NH-A	brain
30	chr11:35173800-35178400	Weak transcription	Esophagus	oesophagus
31	chr11:35173800-35178400	Weak transcription	Left Ventricle	heart
32	chr11:35173800-35179200	Weak transcription	Lung	lung
33	chr11:35173800-35179200	Strong transcription	HSMM	muscle
34	chr11:35174000-35178000	Weak transcription	Adipose Nuclei	Adipose
35	chr11:35174000-35179200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:35174000-35179200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:35174200-35179200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:35174200-35179600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:35174200-35180000	Weak transcription	HSMMtube	muscle
40	chr11:35174400-35178200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr11:35174400-35178200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:35174400-35178200	Weak transcription	Thymus	Thymus
43	chr11:35174400-35178400	Weak transcription	Aorta	Aorta
44	chr11:35174400-35179200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:35174400-35179200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:35174400-35179200	Weak transcription	Right Atrium	heart
47	chr11:35174400-35179800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:35174400-35180400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:35174400-35184000	Weak transcription	GM12878-XiMat	blood
50	chr11:35174600-35178000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--

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