Variant report

Variant	rs7971145
Chromosome Location	chr12:51865822-51865823
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	chr12:51864825..51866367-chr12:51879028..51881333,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17125850	1.00[ASW][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17125880	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2067764	1.00[GIH][hapmap]
rs2271150	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2279951	0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2292215	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2292216	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34555885	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57024323	0.85[ASN][1000 genomes]
rs57960673	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60368956	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61736806	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7136085	1.00[GIH][hapmap]
rs7294353	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7301925	0.92[ASN][1000 genomes]
rs7958793	0.83[ASN][1000 genomes]
rs7959067	0.83[ASN][1000 genomes]
rs7974113	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1038285	chr12:51762953-51916723	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv519438	chr12:51837789-51900105	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51827400-51866800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:51835800-51868800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:51836200-51868600	Weak transcription	NHLF	lung
4	chr12:51839200-51876200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:51840200-51867200	Weak transcription	GM12878-XiMat	blood
6	chr12:51843400-51876400	Weak transcription	Fetal Stomach	stomach
7	chr12:51843400-51881800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:51844400-51876600	Weak transcription	NHDF-Ad	bronchial
9	chr12:51844800-51876800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:51845000-51867400	Weak transcription	Ovary	ovary
11	chr12:51845000-51870200	Weak transcription	Primary B cells from cord blood	blood
12	chr12:51848200-51873600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:51850000-51870800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:51852800-51868600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:51853400-51898600	Weak transcription	Fetal Brain Male	brain
16	chr12:51854600-51914200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:51855200-51874200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:51855200-51906000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:51855600-51867200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:51858000-51871200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:51859200-51872600	Weak transcription	Pancreas	Pancrea
22	chr12:51859800-51868400	Weak transcription	Right Atrium	heart
23	chr12:51862400-51870600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:51862400-51870800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:51862600-51869600	Strong transcription	Primary T cells from cord blood	blood
26	chr12:51862600-51869800	Strong transcription	Brain Angular Gyrus	brain
27	chr12:51862800-51870000	Strong transcription	Fetal Brain Female	brain
28	chr12:51863000-51869600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:51863200-51870000	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr12:51863400-51867600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:51863600-51870000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:51863800-51871000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:51864000-51866400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:51864000-51870800	Strong transcription	Brain Germinal Matrix	brain
35	chr12:51864000-51871200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr12:51864400-51868200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:51865000-51866800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr12:51865200-51866000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:51865200-51875000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr12:51865400-51867000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:51865400-51869400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:51865600-51868200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:51865600-51868200	Weak transcription	Brain Substantia Nigra	brain
44	chr12:51865600-51869800	Strong transcription	Brain Anterior Caudate	brain
45	chr12:51865600-51874000	Weak transcription	Fetal Intestine Small	intestine
46	chr12:51865600-51874600	Weak transcription	Dnd41	blood
47	chr12:51865600-51914600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:51865800-51866400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:51865800-51867000	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:51865800-51867400	Weak transcription	H1 Cell Line	embryonic stem cell

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