Variant report

Variant	rs12819031
Chromosome Location	chr12:76237736-76237737
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76234777..76238439-chr12:76239479..76242748,4	MCF-7	breast:
2	chr12:76230979..76233331-chr12:76235384..76238133,2	MCF-7	breast:
3	chr12:76237386..76239168-chr12:76425200..76427643,2	MCF-7	breast:
4	chr12:76231188..76233344-chr12:76237057..76238721,2	K562	blood:
5	chr12:76231844..76233597-chr12:76237057..76239947,2	K562	blood:

Variant related genes	Relation type
ENSG00000257839	Chromatin interaction
ENSG00000139289	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10431516	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10431517	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10431594	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10431595	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11180691	0.86[ASN][1000 genomes]
rs11180694	0.86[ASN][1000 genomes]
rs11180698	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180699	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11180700	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11180702	0.96[EUR][1000 genomes]
rs11180704	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11180706	1.00[CEU][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11180707	1.00[CEU][hapmap];0.84[JPT][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11180708	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11180718	0.84[JPT][hapmap]
rs1275563	0.88[EUR][1000 genomes]
rs12809551	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12827587	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12831736	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1532294	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1565771	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17115780	1.00[CEU][hapmap];0.84[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34148649	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34175277	1.00[ASN][1000 genomes]
rs34198570	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34666369	0.97[ASN][1000 genomes]
rs35319713	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35630793	0.97[ASN][1000 genomes]
rs35906325	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35916241	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4531531	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71460148	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71460149	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71460151	0.97[ASN][1000 genomes]
rs937245	0.89[AMR][1000 genomes];0.91[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76228600-76239800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
3	chr12:76231000-76237800	Weak transcription	HepG2	liver
4	chr12:76232200-76241400	Weak transcription	Fetal Stomach	stomach
5	chr12:76235600-76242600	Weak transcription	Left Ventricle	heart
6	chr12:76236000-76237800	Weak transcription	Fetal Brain Male	brain
7	chr12:76236000-76238400	Weak transcription	HUVEC	blood vessel
8	chr12:76236000-76239000	Weak transcription	Brain Angular Gyrus	brain
9	chr12:76236000-76239400	Weak transcription	Fetal Brain Female	brain
10	chr12:76236000-76242000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:76236200-76238000	Weak transcription	Fetal Lung	lung
12	chr12:76236200-76238800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:76236200-76239000	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:76236400-76239000	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:76236400-76239000	Weak transcription	Brain Substantia Nigra	brain
16	chr12:76236400-76239200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:76236400-76242000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:76236600-76239000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:76236800-76241200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:76236800-76241400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:76237200-76238200	Weak transcription	Brain Germinal Matrix	brain
22	chr12:76237400-76238400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:76237400-76239200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:76237600-76238800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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