Variant report

Variant	rs6751758
Chromosome Location	chr2:33569581-33569582
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33535893..33538848-chr2:33568377..33569947,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10169788	0.86[JPT][hapmap]
rs11124313	0.86[JPT][hapmap]
rs11673950	0.86[JPT][hapmap]
rs13391131	0.86[JPT][hapmap]
rs13392154	0.86[JPT][hapmap]
rs17582516	0.86[JPT][hapmap]
rs2603361	0.86[JPT][hapmap]
rs3769540	0.86[JPT][hapmap]
rs3769545	0.86[JPT][hapmap]
rs4670387	0.86[JPT][hapmap]
rs4670408	0.86[JPT][hapmap]
rs6543704	0.86[JPT][hapmap]
rs6739030	0.86[JPT][hapmap]
rs6739506	0.86[JPT][hapmap]
rs6742198	0.85[CHD][hapmap];0.85[JPT][hapmap]
rs749454	1.00[JPT][hapmap]
rs7590205	0.86[JPT][hapmap]
rs817529	0.86[JPT][hapmap]
rs9308934	0.86[JPT][hapmap]
rs971793	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33540800-33580800	Weak transcription	Placenta	Placenta
3	chr2:33542000-33572200	Weak transcription	Liver	Liver
4	chr2:33547600-33579800	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:33547800-33581000	Weak transcription	Fetal Lung	lung
6	chr2:33548200-33588400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:33549000-33588800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:33550600-33577600	Weak transcription	Fetal Stomach	stomach
9	chr2:33558400-33592200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:33561200-33572400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:33561600-33572600	Weak transcription	Gastric	stomach
12	chr2:33563000-33579600	Weak transcription	NHDF-Ad	bronchial
13	chr2:33563200-33570600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:33563200-33577200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:33563200-33578200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:33563800-33569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:33564000-33582200	Weak transcription	Esophagus	oesophagus
18	chr2:33564200-33591600	Weak transcription	Psoas Muscle	Psoas
19	chr2:33565600-33580800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:33565800-33576600	Weak transcription	Ovary	ovary
21	chr2:33565800-33590400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:33565800-33590400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:33566000-33569600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:33566800-33581000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:33567000-33570600	Strong transcription	Stomach Smooth Muscle	stomach
26	chr2:33567000-33571000	Enhancers	Dnd41	blood
27	chr2:33567200-33570400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:33567600-33578000	Weak transcription	Left Ventricle	heart
29	chr2:33567800-33570600	Strong transcription	Aorta	Aorta
30	chr2:33568000-33569800	Weak transcription	Fetal Heart	heart
31	chr2:33568000-33574400	Weak transcription	NHLF	lung
32	chr2:33568200-33570000	Enhancers	Fetal Thymus	thymus
33	chr2:33568400-33580600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:33568600-33570000	Enhancers	Primary T cells from cord blood	blood
35	chr2:33568800-33569800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:33568800-33569800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr2:33568800-33575200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:33569000-33572200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:33569000-33572600	Weak transcription	HUVEC	blood vessel
40	chr2:33569200-33569800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:33569200-33569800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr2:33569200-33569800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr2:33569200-33570400	Strong transcription	Osteobl	bone
44	chr2:33569200-33572400	Weak transcription	NH-A	brain
45	chr2:33569400-33569600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:33569400-33569800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr2:33569400-33569800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr2:33569400-33569800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:33569400-33570000	Enhancers	Thymus	Thymus
50	chr2:33569400-33570600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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