Variant report

Variant	rs2529781
Chromosome Location	chr7:12677845-12677846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12675477..12677333-chr7:12677497..12680179,2	MCF-7	breast:
2	chr7:12676312..12680625-chr7:12682268..12685378,4	K562	blood:
3	chr7:12677397..12680219-chr7:12724736..12728064,3	MCF-7	breast:
4	chr7:12676914..12680238-chr7:12726517..12729212,3	K562	blood:
5	chr7:12677578..12680640-chr7:12725514..12728690,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction
ENSG00000271253	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2074866	1.00[CEU][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2529780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2529786	1.00[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2529787	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2691811	0.95[CEU][hapmap];0.87[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2691812	0.95[CEU][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2691813	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2691814	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2691816	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]
rs2708655	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs740415	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12663800-12693000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:12664800-12700200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:12669400-12680000	Weak transcription	Placenta	Placenta
4	chr7:12674000-12680400	Weak transcription	Fetal Thymus	thymus
5	chr7:12675800-12678000	Weak transcription	Brain Anterior Caudate	brain
6	chr7:12675800-12686000	Weak transcription	Adipose Nuclei	Adipose
7	chr7:12675800-12699800	Weak transcription	Esophagus	oesophagus
8	chr7:12676000-12678000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:12676000-12680400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:12676000-12682400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:12676200-12678400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:12676200-12678600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:12677200-12679400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:12677600-12678600	Enhancers	Stomach Mucosa	stomach
15	chr7:12677600-12679000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr7:12677600-12679000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:12677600-12679000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr7:12677600-12679000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:12677800-12678000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:12677800-12678000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:12677800-12678000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr7:12677800-12678000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:12677800-12678000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:12677800-12678000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:12677800-12678000	Enhancers	Brain Angular Gyrus	brain
26	chr7:12677800-12678000	Enhancers	Brain Cingulate Gyrus	brain
27	chr7:12677800-12678000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:12677800-12678000	Enhancers	Fetal Lung	lung
29	chr7:12677800-12678000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr7:12677800-12678000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
31	chr7:12677800-12678000	Active TSS	HepG2	liver
32	chr7:12677800-12678000	Bivalent/Poised TSS	NHDF-Ad	bronchial
33	chr7:12677800-12678200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:12677800-12678200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:12677800-12678200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr7:12677800-12678200	Enhancers	Primary hematopoietic stem cells	blood
37	chr7:12677800-12678200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr7:12677800-12678200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:12677800-12678200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:12677800-12678200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:12677800-12678200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:12677800-12678200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:12677800-12678200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:12677800-12678200	Enhancers	Brain Hippocampus Middle	brain
45	chr7:12677800-12678200	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr7:12677800-12678200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr7:12677800-12678200	Enhancers	Fetal Brain Female	brain
48	chr7:12677800-12678200	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr7:12677800-12678200	Active TSS	Stomach Smooth Muscle	stomach
50	chr7:12677800-12678200	Enhancers	Spleen	Spleen

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