Variant report

Variant	rs7939149
Chromosome Location	chr11:5672044-5672045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5666668..5668303-chr11:5670799..5673110,2	K562	blood:
2	11:5671653-5683012..11:5714465-5718134	GM12878	blood:

Variant related genes	Relation type
ENSG00000132274	Chromatin interaction
ENSG00000196565	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11037733	1.00[CEU][hapmap]
rs11037778	1.00[CEU][hapmap]
rs16933760	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6578667	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7110703	1.00[EUR][1000 genomes]
rs7123423	0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7124421	1.00[EUR][1000 genomes]
rs7124516	1.00[EUR][1000 genomes]
rs7124885	1.00[EUR][1000 genomes]
rs7125403	1.00[CEU][hapmap]
rs7932400	1.00[EUR][1000 genomes]
rs7934944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7947715	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5647000-5698800	Weak transcription	Colonic Mucosa	Colon
2	chr11:5647400-5675600	Weak transcription	Pancreas	Pancrea
3	chr11:5647400-5689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:5647800-5690600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:5649200-5695600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:5655800-5674200	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:5656200-5675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:5656400-5684600	Weak transcription	Osteobl	bone
9	chr11:5656400-5688800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:5663800-5673600	Weak transcription	Aorta	Aorta
11	chr11:5664000-5685000	Weak transcription	Fetal Thymus	thymus
12	chr11:5664000-5686200	Weak transcription	Small Intestine	intestine
13	chr11:5664000-5686200	Weak transcription	Thymus	Thymus
14	chr11:5664000-5699400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:5665400-5682600	Weak transcription	Primary T cells from cord blood	blood
16	chr11:5665400-5682600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:5665400-5685200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr11:5665400-5685400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:5665400-5685400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:5665400-5685400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:5665400-5685600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:5665400-5685600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:5665400-5685600	Weak transcription	GM12878-XiMat	blood
24	chr11:5665400-5685800	Weak transcription	Esophagus	oesophagus
25	chr11:5665400-5685800	Weak transcription	Ovary	ovary
26	chr11:5665400-5685800	Weak transcription	Spleen	Spleen
27	chr11:5665600-5682800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:5665600-5682800	Weak transcription	Gastric	stomach
29	chr11:5665600-5685200	Weak transcription	Fetal Intestine Large	intestine
30	chr11:5665600-5685400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:5665600-5685600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:5665800-5675600	Weak transcription	Fetal Lung	lung
33	chr11:5666000-5684800	Weak transcription	Primary B cells from cord blood	blood
34	chr11:5666200-5673600	Weak transcription	Adipose Nuclei	Adipose
35	chr11:5666200-5682800	Weak transcription	Liver	Liver
36	chr11:5666200-5682800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr11:5666400-5673600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:5666400-5684000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:5666400-5685000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr11:5666400-5685600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:5666400-5690800	Weak transcription	Lung	lung
42	chr11:5666400-5699400	Weak transcription	Left Ventricle	heart
43	chr11:5667000-5685600	Weak transcription	Placenta	Placenta

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