Variant report

Variant	rs7135630
Chromosome Location	chr12:46744855-46744856
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	chr12:46547322..46549360-chr12:46744553..46747432,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10880955	0.97[EUR][1000 genomes]
rs10880956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7964679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7975820	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9669403	0.84[MEX][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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3423694	chr12:46733685-46745567	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46737000-46745800	Weak transcription	Adipose Nuclei	Adipose
2	chr12:46737200-46754800	Weak transcription	Psoas Muscle	Psoas
3	chr12:46737600-46753600	Weak transcription	Pancreas	Pancrea
4	chr12:46737600-46761200	Weak transcription	Gastric	stomach
5	chr12:46743200-46752600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:46743200-46753400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:46743400-46752400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:46743600-46748200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:46743600-46752400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:46743600-46752400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:46743600-46752600	Weak transcription	Right Ventricle	heart
12	chr12:46743600-46754600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:46743800-46747800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:46743800-46752400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:46743800-46752400	Weak transcription	HUVEC	blood vessel
16	chr12:46743800-46752600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:46743800-46752600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:46743800-46752600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:46743800-46752800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:46743800-46752800	Weak transcription	Left Ventricle	heart
21	chr12:46743800-46753000	Weak transcription	Lung	lung
22	chr12:46743800-46753200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:46743800-46753400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:46744000-46746600	Weak transcription	Aorta	Aorta
25	chr12:46744000-46751800	Weak transcription	Primary T cells from cord blood	blood
26	chr12:46744000-46753000	Weak transcription	Dnd41	blood
27	chr12:46744000-46760600	Weak transcription	Spleen	Spleen
28	chr12:46744800-46745000	Enhancers	Ovary	ovary

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