Variant report

Variant	rs2691816
Chromosome Location	chr7:12676187-12676188
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	chr7:12675477..12677333-chr7:12677497..12680179,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2074866	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2529780	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2529781	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2529786	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2529787	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2691811	0.95[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2691812	0.95[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2691813	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2691814	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2708655	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740415	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	58 gene(s)	inside rSNPs	diseases
4	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12663600-12677800	Weak transcription	Fetal Kidney	kidney
2	chr7:12663800-12693000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:12664000-12677600	Weak transcription	Stomach Mucosa	stomach
4	chr7:12664000-12677800	Weak transcription	K562	blood
5	chr7:12664800-12700200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:12669400-12680000	Weak transcription	Placenta	Placenta
7	chr7:12669800-12677800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:12674000-12680400	Weak transcription	Fetal Thymus	thymus
9	chr7:12675200-12676200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr7:12675400-12676200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:12675600-12676200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:12675800-12676200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:12675800-12676200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr7:12675800-12676200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:12675800-12676200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr7:12675800-12676200	Enhancers	NHEK	skin
17	chr7:12675800-12677200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:12675800-12677800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:12675800-12677800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:12675800-12677800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:12675800-12677800	Weak transcription	NHLF	lung
22	chr7:12675800-12678000	Weak transcription	Brain Anterior Caudate	brain
23	chr7:12675800-12686000	Weak transcription	Adipose Nuclei	Adipose
24	chr7:12675800-12699800	Weak transcription	Esophagus	oesophagus
25	chr7:12676000-12676200	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:12676000-12676200	Enhancers	Primary T cells from cord blood	blood
27	chr7:12676000-12676200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr7:12676000-12676200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr7:12676000-12676200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr7:12676000-12676200	Enhancers	GM12878-XiMat	blood
31	chr7:12676000-12676400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:12676000-12677600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:12676000-12677600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:12676000-12677600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:12676000-12677800	Weak transcription	Primary B cells from cord blood	blood
36	chr7:12676000-12677800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:12676000-12677800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:12676000-12677800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:12676000-12677800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:12676000-12677800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:12676000-12677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:12676000-12677800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:12676000-12677800	Weak transcription	Osteobl	bone
44	chr7:12676000-12678000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr7:12676000-12680400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr7:12676000-12682400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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