Variant report

Variant	rs12321230
Chromosome Location	chr12:12436663-12436664
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12420321..12422188-chr12:12434856..12437059,2	MCF-7	breast:
2	chr12:12435889..12438304-chr12:12442980..12444764,2	MCF-7	breast:
3	chr12:12435921..12437917-chr12:12447331..12449825,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10466849	1.00[CHB][hapmap]
rs10845499	1.00[CHB][hapmap]
rs11054720	1.00[CHB][hapmap]
rs11054729	1.00[CHB][hapmap]
rs11054732	1.00[CHB][hapmap]
rs11054762	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054765	1.00[CHB][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12313063	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12422312	1.00[CHB][hapmap]
rs12425946	1.00[CHB][hapmap]
rs57125171	0.83[ASN][1000 genomes]
rs7308022	1.00[CHB][hapmap]
rs73275029	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73275034	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73275042	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73293337	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74061124	1.00[ASN][1000 genomes]
rs74061127	1.00[ASN][1000 genomes]
rs74061140	1.00[ASN][1000 genomes]
rs74061143	1.00[ASN][1000 genomes]
rs74061150	1.00[ASN][1000 genomes]
rs74061155	1.00[ASN][1000 genomes]
rs74061157	1.00[ASN][1000 genomes]
rs74061158	1.00[ASN][1000 genomes]
rs7957531	1.00[CHB][hapmap]
rs7973718	1.00[CHB][hapmap]
rs7978064	1.00[CHB][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12433200-12436800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:12433800-12437600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr12:12433800-12437600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:12434000-12437200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:12434200-12436800	Weak transcription	Aorta	Aorta
6	chr12:12434400-12443000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:12434800-12437600	Enhancers	Fetal Brain Male	brain
8	chr12:12435000-12436800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:12435000-12437000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:12435200-12436800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:12435200-12436800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:12435200-12437000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:12435200-12437000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:12435200-12437000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:12435200-12437000	Enhancers	Hela-S3	cervix
16	chr12:12435200-12437000	Enhancers	NH-A	brain
17	chr12:12435200-12437600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:12435400-12436800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:12435400-12436800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:12435400-12436800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:12435400-12437000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:12435400-12437600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:12435400-12437800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:12436000-12436800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:12436000-12436800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr12:12436000-12437000	Enhancers	Stomach Mucosa	stomach
27	chr12:12436200-12437000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:12436200-12437000	Enhancers	Pancreas	Pancrea
29	chr12:12436400-12436800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:12436400-12436800	Enhancers	Esophagus	oesophagus
31	chr12:12436400-12436800	Enhancers	Left Ventricle	heart
32	chr12:12436400-12436800	Enhancers	Lung	lung
33	chr12:12436400-12437200	Enhancers	Placenta	Placenta
34	chr12:12436400-12437200	Enhancers	Ovary	ovary
35	chr12:12436400-12437600	Enhancers	A549	lung
36	chr12:12436600-12437000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:12436600-12437000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:12436600-12437000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:12436600-12437000	Enhancers	Spleen	Spleen
40	chr12:12436600-12446200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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