Variant report

Variant	rs7397951
Chromosome Location	chr12:56562490-56562491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56561527..56563546-chr12:56573433..56576095,2	MCF-7	breast:
2	chr12:56561581..56563306-chr12:56581871..56584205,4	MCF-7	breast:
3	chr12:56508092..56528020-chr12:56536122..56568603,201	MCF-7	breast:
4	chr12:56562450..56567613-chr12:56569949..56573416,6	K562	blood:

Variant related genes	Relation type
ENSG00000258345	Chromatin interaction
ENSG00000258199	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000258317	Chromatin interaction
ENSG00000139641	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11171760	1.00[EUR][1000 genomes]
rs11837267	1.00[EUR][1000 genomes]
rs12298822	1.00[EUR][1000 genomes]
rs12306670	1.00[EUR][1000 genomes]
rs12308473	1.00[EUR][1000 genomes]
rs17852368	1.00[EUR][1000 genomes]
rs2450101	1.00[EUR][1000 genomes]
rs2629453	1.00[EUR][1000 genomes]
rs28546848	1.00[EUR][1000 genomes]
rs4759216	0.93[AMR][1000 genomes]
rs56163805	1.00[EUR][1000 genomes]
rs59499104	1.00[EUR][1000 genomes]
rs73340385	1.00[EUR][1000 genomes]
rs73340390	1.00[EUR][1000 genomes]
rs772925	1.00[EUR][1000 genomes]
rs772926	1.00[EUR][1000 genomes]
rs773654	1.00[EUR][1000 genomes]
rs773663	1.00[EUR][1000 genomes]
rs7967464	1.00[EUR][1000 genomes]
rs7975486	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56554000-56582000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56554200-56581400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:56554600-56568600	Strong transcription	Ovary	ovary
4	chr12:56555000-56569600	Strong transcription	Brain Substantia Nigra	brain
5	chr12:56555000-56575600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:56555000-56579800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:56555000-56580800	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr12:56555000-56580800	Strong transcription	Brain Anterior Caudate	brain
9	chr12:56555000-56581000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:56555200-56563200	Weak transcription	Right Atrium	heart
11	chr12:56555200-56565200	Weak transcription	Fetal Brain Male	brain
12	chr12:56555200-56573600	Strong transcription	Fetal Lung	lung
13	chr12:56555200-56578800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:56555200-56580600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:56555200-56580800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:56555400-56568600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:56555400-56568600	Strong transcription	Esophagus	oesophagus
18	chr12:56555400-56568600	Strong transcription	Gastric	stomach
19	chr12:56555400-56579000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:56555400-56580000	Strong transcription	Placenta	Placenta
21	chr12:56555400-56580600	Strong transcription	Thymus	Thymus
22	chr12:56555400-56580800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr12:56555400-56580800	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr12:56555400-56580800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:56555600-56566600	Strong transcription	Spleen	Spleen
26	chr12:56555600-56569000	Strong transcription	Left Ventricle	heart
27	chr12:56555600-56573600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:56555600-56575400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:56555600-56576000	Strong transcription	Brain Cingulate Gyrus	brain
30	chr12:56555600-56580600	Strong transcription	Fetal Brain Female	brain
31	chr12:56555600-56580800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:56555600-56580800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:56555600-56580800	Strong transcription	Liver	Liver
34	chr12:56555600-56580800	Strong transcription	Osteobl	bone
35	chr12:56555800-56568800	Strong transcription	Brain Angular Gyrus	brain
36	chr12:56555800-56569600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:56555800-56573400	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr12:56555800-56580200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:56555800-56580600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:56555800-56580600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:56555800-56580800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:56555800-56580800	Strong transcription	Fetal Thymus	thymus
43	chr12:56555800-56580800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:56555800-56581000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:56556000-56568000	Strong transcription	Pancreas	Pancrea
46	chr12:56556000-56573400	Strong transcription	GM12878-XiMat	blood
47	chr12:56556000-56573400	Strong transcription	NHEK	skin
48	chr12:56556000-56573600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr12:56556000-56578000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:56556000-56580800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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