Variant report

Variant	rs7975772
Chromosome Location	chr12:12436199-12436200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12428303..12430629-chr12:12434266..12436457,2	MCF-7	breast:
2	chr12:12420321..12422188-chr12:12434856..12437059,2	MCF-7	breast:
3	chr12:12435889..12438304-chr12:12442980..12444764,2	MCF-7	breast:
4	chr12:12435921..12437917-chr12:12447331..12449825,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10431302	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10431304	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10772546	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845501	0.82[EUR][1000 genomes]
rs10845507	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11054754	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4763794	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4763795	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7302808	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7962366	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965201	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7979787	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9300240	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12421000-12436600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:12433200-12436800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:12433800-12436600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:12433800-12437600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:12433800-12437600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:12434000-12437200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:12434200-12436800	Weak transcription	Aorta	Aorta
8	chr12:12434400-12436400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:12434400-12443000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:12434800-12437600	Enhancers	Fetal Brain Male	brain
11	chr12:12435000-12436200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:12435000-12436600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:12435000-12436800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:12435000-12437000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:12435200-12436200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:12435200-12436400	Enhancers	HUVEC	blood vessel
17	chr12:12435200-12436400	Enhancers	NHLF	lung
18	chr12:12435200-12436600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:12435200-12436800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:12435200-12436800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:12435200-12437000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:12435200-12437000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:12435200-12437000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:12435200-12437000	Enhancers	Hela-S3	cervix
25	chr12:12435200-12437000	Enhancers	NH-A	brain
26	chr12:12435200-12437600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:12435400-12436200	Enhancers	HSMM	muscle
28	chr12:12435400-12436400	Weak transcription	Ovary	ovary
29	chr12:12435400-12436600	Enhancers	NHEK	skin
30	chr12:12435400-12436800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:12435400-12436800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:12435400-12436800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:12435400-12437000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:12435400-12437600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr12:12435400-12437800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:12435600-12436400	Flanking Active TSS	A549	lung
37	chr12:12435600-12436600	Enhancers	Osteobl	bone
38	chr12:12435800-12436400	Enhancers	HMEC	breast
39	chr12:12436000-12436400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:12436000-12436400	Enhancers	HSMMtube	muscle
41	chr12:12436000-12436600	Enhancers	Fetal Lung	lung
42	chr12:12436000-12436800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:12436000-12436800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr12:12436000-12437000	Enhancers	Stomach Mucosa	stomach

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