Variant report

Variant	rs7295871
Chromosome Location	chr12:62648872-62648873
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	chr12:62648146..62650839-chr12:62653527..62655682,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198673	Chromatin interaction
ENSG00000135655	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17126063	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17126100	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17126124	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs56079604	1.00[AMR][1000 genomes]
rs58529824	1.00[AMR][1000 genomes]
rs59103242	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60606440	1.00[AMR][1000 genomes]
rs61541331	1.00[AMR][1000 genomes]
rs7131719	1.00[AMR][1000 genomes]
rs74095707	1.00[AMR][1000 genomes]
rs74095709	1.00[AMR][1000 genomes]
rs74095716	1.00[AMR][1000 genomes]
rs74095721	1.00[AMR][1000 genomes]
rs74095730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095743	1.00[AMR][1000 genomes]
rs74098033	1.00[AMR][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	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 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	chr12:62638000-62650000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:62643400-62651200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:62643600-62652800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:62644800-62653000	Weak transcription	Left Ventricle	heart
5	chr12:62645000-62650200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:62645000-62653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:62645200-62652000	Weak transcription	Fetal Kidney	kidney
8	chr12:62645200-62653200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:62645400-62650000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:62645400-62650200	Weak transcription	HMEC	breast
11	chr12:62645400-62650400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:62645400-62652600	Weak transcription	NHEK	skin
13	chr12:62645400-62652800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:62645400-62652800	Weak transcription	Fetal Thymus	thymus
15	chr12:62645600-62650200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:62645600-62650200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:62645600-62650200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:62645600-62652800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:62645800-62650200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:62645800-62650400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:62645800-62651400	Weak transcription	Primary B cells from cord blood	blood
22	chr12:62645800-62652000	Weak transcription	Dnd41	blood
23	chr12:62646000-62649800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:62646000-62650200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:62646000-62650200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:62646000-62650200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:62646000-62652600	Weak transcription	Adipose Nuclei	Adipose
28	chr12:62646000-62652800	Weak transcription	Liver	Liver
29	chr12:62646200-62649400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:62646200-62649600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:62646200-62650200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:62646200-62650200	Weak transcription	Primary T cells from cord blood	blood
33	chr12:62646200-62650200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:62646200-62650200	Weak transcription	Ovary	ovary
35	chr12:62646200-62652600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:62646400-62649800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:62646400-62652200	Weak transcription	GM12878-XiMat	blood
38	chr12:62646600-62650400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:62647000-62653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:62647000-62653200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:62647600-62649400	Weak transcription	K562	blood
42	chr12:62647600-62649600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr12:62647600-62650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:62647800-62649400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr12:62647800-62650200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:62647800-62650200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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