Variant report

Variant	rs11180718
Chromosome Location	chr12:76244216-76244217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76242367..76248604-chr12:76422405..76426784,7	MCF-7	breast:
2	chr12:76243477..76245855-chr12:76249457..76251726,2	K562	blood:

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

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10431516	0.95[ASN][1000 genomes]
rs10431517	0.94[ASN][1000 genomes]
rs10431594	0.95[ASN][1000 genomes]
rs10431595	0.95[ASN][1000 genomes]
rs10506664	0.82[JPT][hapmap]
rs11180692	0.88[JPT][hapmap]
rs11180693	0.88[JPT][hapmap]
rs11180699	0.82[ASN][1000 genomes]
rs11180702	0.95[ASN][1000 genomes]
rs11180704	0.95[ASN][1000 genomes]
rs11180706	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11180707	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11180708	0.97[ASN][1000 genomes]
rs11180715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11180717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1275563	0.82[ASN][1000 genomes]
rs12810244	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12819031	0.84[JPT][hapmap]
rs12822358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12827587	0.97[ASN][1000 genomes]
rs12831736	0.95[ASN][1000 genomes]
rs1532294	0.95[ASN][1000 genomes]
rs1565771	0.95[ASN][1000 genomes]
rs17115738	0.88[JPT][hapmap]
rs17115780	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.95[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	0.95[ASN][1000 genomes]
rs35630793	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35906325	0.95[ASN][1000 genomes]
rs35916241	0.95[ASN][1000 genomes]
rs4531531	0.97[ASN][1000 genomes]
rs71460149	0.95[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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
2	chr12:76239600-76244600	Weak transcription	HepG2	liver
3	chr12:76240400-76247400	Weak transcription	Aorta	Aorta
4	chr12:76240800-76244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:76241600-76246000	Enhancers	Brain Germinal Matrix	brain
6	chr12:76241600-76248800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:76241600-76251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:76242000-76245400	Enhancers	NHLF	lung
9	chr12:76242000-76246600	Enhancers	Osteobl	bone
10	chr12:76242000-76247600	Enhancers	NHDF-Ad	bronchial
11	chr12:76242000-76249000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:76242200-76245200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:76242200-76245800	Enhancers	NHEK	skin
14	chr12:76242200-76247800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:76242600-76244400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:76242800-76244600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:76243200-76244400	Weak transcription	HSMMtube	muscle
18	chr12:76243200-76244400	Weak transcription	HUVEC	blood vessel
19	chr12:76243200-76244800	Weak transcription	Left Ventricle	heart
20	chr12:76243200-76245800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:76243400-76244600	Weak transcription	Fetal Kidney	kidney
22	chr12:76243400-76244600	Weak transcription	Psoas Muscle	Psoas
23	chr12:76243400-76244800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:76243400-76245200	Enhancers	Fetal Lung	lung
25	chr12:76243400-76253800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:76243600-76244600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:76243600-76244600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:76243600-76244600	Weak transcription	Ovary	ovary
29	chr12:76243600-76244800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:76243800-76244600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:76243800-76245000	Enhancers	Small Intestine	intestine
32	chr12:76243800-76246200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:76243800-76247400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:76244000-76244400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:76244000-76245200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:76244000-76245200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:76244000-76245400	Enhancers	Hela-S3	cervix
38	chr12:76244000-76245800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:76244000-76249000	Enhancers	HMEC	breast
40	chr12:76244000-76249200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:76244200-76244400	Enhancers	A549	lung
42	chr12:76244200-76245000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:76244200-76245000	Enhancers	Fetal Muscle Leg	muscle
44	chr12:76244200-76245000	Enhancers	Right Ventricle	heart
45	chr12:76244200-76245200	Enhancers	Fetal Stomach	stomach
46	chr12:76244200-76246400	Enhancers	NH-A	brain
47	chr12:76244200-76246600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:76244200-76246800	Enhancers	Muscle Satellite Cultured Cells	--

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