Variant report

Variant	rs12422374
Chromosome Location	chr12:76110349-76110350
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76092093..76110851-chr12:76415034..76433496,122	MCF-7	breast:
2	chr12:76102346..76108137-chr12:76108362..76111472,5	MCF-7	breast:
3	chr12:76103874..76111148-chr12:76112002..76118442,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257453	Chromatin interaction
ENSG00000264062	Chromatin interaction
ENSG00000257839	Chromatin interaction
ENSG00000139289	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10785202	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10785206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785207	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11180648	0.93[AMR][1000 genomes]
rs11180650	0.90[JPT][hapmap]
rs12304941	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309589	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424870	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882020	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1920415	0.98[ASN][1000 genomes]
rs4300421	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4578425	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59472164	0.93[AMR][1000 genomes]
rs6582296	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7295963	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309950	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73363702	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7959975	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs7960787	0.82[CEU][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs7964632	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7980070	0.84[AMR][1000 genomes];0.90[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	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv899314	chr12:76079814-76110751	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76098800-76114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:76098800-76114400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:76099600-76110800	Enhancers	HepG2	liver
4	chr12:76100000-76115200	Weak transcription	Pancreas	Pancrea
5	chr12:76101000-76113600	Weak transcription	Fetal Stomach	stomach
6	chr12:76101400-76114200	Weak transcription	Left Ventricle	heart
7	chr12:76101400-76114800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:76101800-76114200	Weak transcription	NHLF	lung
9	chr12:76103600-76115600	Weak transcription	Aorta	Aorta
10	chr12:76104000-76110600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:76104000-76114400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:76104600-76114200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:76105000-76114600	Weak transcription	NHDF-Ad	bronchial
14	chr12:76105400-76110800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:76105400-76113600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:76105600-76113600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:76105600-76114400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:76105800-76113600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:76106200-76115800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:76106400-76114600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:76106600-76114600	Weak transcription	NH-A	brain
22	chr12:76107000-76114200	Weak transcription	Right Ventricle	heart
23	chr12:76107000-76114400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:76107600-76113400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:76107800-76113200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:76108000-76110800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:76108000-76113400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:76108000-76113600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:76108600-76113600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:76108800-76113200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:76108800-76113200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:76108800-76113400	Weak transcription	HMEC	breast
33	chr12:76108800-76114200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:76109200-76110800	Enhancers	A549	lung
35	chr12:76109200-76113600	Weak transcription	Hela-S3	cervix
36	chr12:76109600-76110800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:76110200-76110600	Weak transcription	Esophagus	oesophagus
38	chr12:76110200-76110600	Weak transcription	NHEK	skin

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