Variant report

Variant	rs12822358
Chromosome Location	chr12:76242070-76242071
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76234777..76238439-chr12:76239479..76242748,4	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10431516	0.94[ASN][1000 genomes]
rs10431517	0.93[ASN][1000 genomes]
rs10431594	0.94[ASN][1000 genomes]
rs10431595	0.94[ASN][1000 genomes]
rs10506664	0.82[JPT][hapmap]
rs11180692	0.88[JPT][hapmap]
rs11180693	0.88[JPT][hapmap]
rs11180699	0.81[ASN][1000 genomes]
rs11180702	0.94[ASN][1000 genomes]
rs11180704	0.94[ASN][1000 genomes]
rs11180706	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11180707	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11180708	0.96[ASN][1000 genomes]
rs11180714	0.82[YRI][hapmap]
rs11180715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11180717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11180718	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[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];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11180719	0.83[YRI][hapmap]
rs12227868	0.83[YRI][hapmap]
rs1275563	0.81[ASN][1000 genomes]
rs12810244	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12819031	0.84[JPT][hapmap]
rs12827587	0.96[ASN][1000 genomes]
rs12831736	0.94[ASN][1000 genomes]
rs1493791	0.81[YRI][hapmap]
rs1532294	0.94[ASN][1000 genomes]
rs1565771	0.94[ASN][1000 genomes]
rs17115738	0.88[JPT][hapmap]
rs17115780	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.94[ASN][1000 genomes]
rs34175277	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34666369	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35319713	0.94[ASN][1000 genomes]
rs35630793	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35906325	0.94[ASN][1000 genomes]
rs35916241	0.94[ASN][1000 genomes]
rs4531531	0.96[ASN][1000 genomes]
rs71460149	0.94[ASN][1000 genomes]
rs71460151	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
2	chr12:76235600-76242600	Weak transcription	Left Ventricle	heart
3	chr12:76239600-76244600	Weak transcription	HepG2	liver
4	chr12:76239800-76242400	Weak transcription	Fetal Brain Female	brain
5	chr12:76240400-76242200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:76240400-76247400	Weak transcription	Aorta	Aorta
7	chr12:76240800-76244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:76241000-76242800	Enhancers	Fetal Lung	lung
9	chr12:76241200-76242200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:76241200-76243800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:76241200-76244000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:76241400-76243200	Enhancers	HUVEC	blood vessel
13	chr12:76241400-76243600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:76241400-76243800	Enhancers	Fetal Stomach	stomach
15	chr12:76241400-76244000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:76241600-76242400	Enhancers	Brain Substantia Nigra	brain
17	chr12:76241600-76242800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:76241600-76242800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:76241600-76243600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:76241600-76243600	Enhancers	Ovary	ovary
21	chr12:76241600-76243800	Enhancers	Fetal Muscle Leg	muscle
22	chr12:76241600-76246000	Enhancers	Brain Germinal Matrix	brain
23	chr12:76241600-76248800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:76241600-76251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:76241800-76242600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:76241800-76243800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:76242000-76242200	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr12:76242000-76242200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr12:76242000-76242200	Active TSS	Fetal Brain Male	brain
30	chr12:76242000-76242200	Enhancers	HSMMtube	muscle
31	chr12:76242000-76242400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:76242000-76243200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:76242000-76243200	Enhancers	Brain Anterior Caudate	brain
34	chr12:76242000-76243200	Enhancers	Brain Cingulate Gyrus	brain
35	chr12:76242000-76243200	Enhancers	Right Ventricle	heart
36	chr12:76242000-76243400	Enhancers	Brain Angular Gyrus	brain
37	chr12:76242000-76243400	Enhancers	Fetal Kidney	kidney
38	chr12:76242000-76243600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:76242000-76243600	Enhancers	HMEC	breast
40	chr12:76242000-76244000	Enhancers	Colon Smooth Muscle	Colon
41	chr12:76242000-76245400	Enhancers	NHLF	lung
42	chr12:76242000-76246600	Enhancers	Osteobl	bone
43	chr12:76242000-76247600	Enhancers	NHDF-Ad	bronchial
44	chr12:76242000-76249000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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