Variant report

Variant	rs7956984
Chromosome Location	chr12:12711723-12711724
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12710433..12719642-chr12:12755652..12767678,23	MCF-7	breast:
2	chr12:12709604..12712451-chr12:12849919..12851649,2	K562	blood:
3	chr12:12603843..12606415-chr12:12711459..12714793,4	MCF-7	breast:
4	chr12:12711165..12717532-chr12:12865354..12880919,24	MCF-7	breast:
5	chr12:12710657..12713156-chr12:12750548..12752486,2	K562	blood:
6	chr12:12709465..12712162-chr12:122232078..122235026,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271370	Chromatin interaction
ENSG00000111276	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000178878	Chromatin interaction
ENSG00000111269	Chromatin interaction
ENSG00000256658	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10845572	0.80[CEU][hapmap]
rs11613385	0.81[CEU][hapmap]
rs2041927	0.85[CEU][hapmap];0.96[CHB][hapmap];0.82[JPT][hapmap]
rs4763843	0.92[CEU][hapmap]
rs7137455	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking 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	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1433751	chr12:12711724-12711729	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12686800-12712200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:12686800-12712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:12687200-12712600	Weak transcription	Aorta	Aorta
4	chr12:12687400-12712600	Weak transcription	K562	blood
5	chr12:12688200-12714400	Weak transcription	Gastric	stomach
6	chr12:12690600-12712600	Weak transcription	NHLF	lung
7	chr12:12692000-12713000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:12692400-12713600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:12694200-12712800	Weak transcription	Adipose Nuclei	Adipose
10	chr12:12694400-12712800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:12694400-12712800	Weak transcription	Fetal Stomach	stomach
12	chr12:12694600-12712600	Weak transcription	Fetal Thymus	thymus
13	chr12:12697600-12712600	Weak transcription	Thymus	Thymus
14	chr12:12698800-12712400	Weak transcription	NHEK	skin
15	chr12:12699000-12712600	Weak transcription	HUVEC	blood vessel
16	chr12:12699600-12712600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:12700000-12712000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:12700400-12712600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:12701400-12712600	Weak transcription	Fetal Lung	lung
20	chr12:12701400-12712800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:12701400-12713400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:12701400-12713600	Weak transcription	Lung	lung
23	chr12:12701800-12713800	Weak transcription	HSMM	muscle
24	chr12:12703000-12712800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:12703800-12713800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:12705600-12713000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:12706600-12714400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:12706800-12712400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:12706800-12712600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:12707000-12713600	Weak transcription	Placenta	Placenta
31	chr12:12707800-12712600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:12708200-12712200	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:12708400-12711800	Weak transcription	Fetal Heart	heart
34	chr12:12708400-12711800	Weak transcription	A549	lung
35	chr12:12708400-12712000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:12708400-12712600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:12708400-12712800	Weak transcription	Left Ventricle	heart
38	chr12:12708800-12712600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:12708800-12712600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:12708800-12713400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:12709000-12712800	Weak transcription	Right Atrium	heart
42	chr12:12709000-12713400	Weak transcription	Right Ventricle	heart
43	chr12:12709200-12712200	Weak transcription	Brain Substantia Nigra	brain
44	chr12:12709400-12712800	Weak transcription	Small Intestine	intestine
45	chr12:12709600-12712000	Weak transcription	Brain Anterior Caudate	brain
46	chr12:12710000-12712200	Weak transcription	Fetal Kidney	kidney
47	chr12:12710400-12713000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr12:12710400-12713000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr12:12710600-12711800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:12710800-12712400	Enhancers	Primary T helper cells fromperipheralblood	blood

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