Variant report

Variant	rs7294581
Chromosome Location	chr12:117428597-117428598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117427238..117428899-chr12:117435662..117438288,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1051879	1.00[MEX][hapmap];0.85[YRI][hapmap]
rs16947122	1.00[MEX][hapmap]
rs16947131	0.85[YRI][hapmap]
rs16947209	0.85[YRI][hapmap]
rs16947233	1.00[MEX][hapmap];0.85[YRI][hapmap]
rs58661666	1.00[AMR][1000 genomes]
rs7133142	1.00[MEX][hapmap]
rs7133609	1.00[MEX][hapmap];0.85[YRI][hapmap]
rs7305313	1.00[MEX][hapmap]
rs73395548	1.00[AMR][1000 genomes]
rs73395573	1.00[AMR][1000 genomes]
rs73395576	1.00[AMR][1000 genomes]
rs73397415	1.00[AMR][1000 genomes]
rs73397440	1.00[AMR][1000 genomes]
rs73397442	1.00[AMR][1000 genomes]
rs73397454	1.00[AMR][1000 genomes]
rs73397475	1.00[AMR][1000 genomes]
rs73397493	1.00[AMR][1000 genomes]
rs73399498	1.00[AMR][1000 genomes]
rs73405269	1.00[AMR][1000 genomes]
rs7978853	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:117387800-117463600	Weak transcription	HMEC	breast
3	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
4	chr12:117397000-117429200	Weak transcription	Right Ventricle	heart
5	chr12:117397000-117442400	Weak transcription	Colonic Mucosa	Colon
6	chr12:117404600-117442400	Weak transcription	HepG2	liver
7	chr12:117405600-117442400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:117408200-117429600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:117408200-117442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:117408400-117432600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
12	chr12:117411600-117434000	Weak transcription	Brain Angular Gyrus	brain
13	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:117411800-117429200	Weak transcription	Hela-S3	cervix
15	chr12:117412000-117432400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:117412200-117432600	Weak transcription	Spleen	Spleen
17	chr12:117412200-117440000	Weak transcription	Esophagus	oesophagus
18	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
19	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
20	chr12:117418000-117433800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:117418000-117433800	Weak transcription	Lung	lung
22	chr12:117418400-117441800	Weak transcription	K562	blood
23	chr12:117418400-117442400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:117418400-117444600	Weak transcription	HUVEC	blood vessel
25	chr12:117421000-117433800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:117421200-117429200	Weak transcription	NH-A	brain
27	chr12:117421200-117436400	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:117421200-117438000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:117421200-117438000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:117421200-117438200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:117421400-117433800	Weak transcription	Aorta	Aorta
32	chr12:117421600-117438000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:117422600-117430200	Strong transcription	Fetal Muscle Leg	muscle
34	chr12:117423000-117429400	Strong transcription	Ovary	ovary
35	chr12:117423000-117429800	Strong transcription	Primary T cells from cord blood	blood
36	chr12:117423000-117429800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:117423000-117430800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:117423200-117428800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:117423200-117429400	Strong transcription	Fetal Intestine Large	intestine
40	chr12:117423200-117429400	Strong transcription	Fetal Stomach	stomach
41	chr12:117423200-117429800	Strong transcription	Adipose Nuclei	Adipose
42	chr12:117423200-117430400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr12:117423200-117430800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:117423200-117432600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:117423400-117429400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:117423600-117433800	Weak transcription	NHEK	skin
47	chr12:117424400-117429400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:117424600-117429400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr12:117424800-117430000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:117425000-117430000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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