Variant report

Variant	rs9888334
Chromosome Location	chr12:68334932-68334933
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	chr12:68042733..68044799-chr12:68333613..68335676,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127334	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10492202	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10878704	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11176947	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176950	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176951	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176955	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176956	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176960	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11176962	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11176964	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12582501	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104563	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2870807	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4913265	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4913372	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4913373	0.98[ASN][1000 genomes]
rs4913375	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4913377	1.00[ASN][1000 genomes]
rs58642438	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60650476	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7311747	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7311772	1.00[ASN][1000 genomes]
rs73322794	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73324809	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7954639	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7972825	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:68332800-68335000	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr12:68333200-68335400	Enhancers	Fetal Muscle Leg	muscle
3	chr12:68333200-68335600	Enhancers	HSMM	muscle
4	chr12:68333200-68337800	Enhancers	Fetal Heart	heart
5	chr12:68333400-68335000	Enhancers	Brain Hippocampus Middle	brain
6	chr12:68333400-68335000	Enhancers	Brain Substantia Nigra	brain
7	chr12:68333400-68335400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:68333400-68337400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:68333600-68335200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:68333600-68336200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:68333600-68336600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:68334200-68335400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:68334200-68337000	Enhancers	Stomach Mucosa	stomach
14	chr12:68334400-68335000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:68334400-68335000	Enhancers	Brain Angular Gyrus	brain
16	chr12:68334400-68335000	Enhancers	HMEC	breast
17	chr12:68334400-68335000	Enhancers	NHDF-Ad	bronchial
18	chr12:68334400-68335000	Enhancers	NHEK	skin
19	chr12:68334400-68335200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:68334400-68335200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:68334400-68335200	Enhancers	NHLF	lung
22	chr12:68334400-68335200	Enhancers	Osteobl	bone
23	chr12:68334400-68335400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:68334400-68335600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:68334400-68336800	Enhancers	Psoas Muscle	Psoas
26	chr12:68334400-68337200	Enhancers	Fetal Intestine Large	intestine
27	chr12:68334400-68337800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr12:68334600-68335000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:68334600-68335000	Enhancers	Duodenum Mucosa	Duodenum
30	chr12:68334600-68335000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr12:68334600-68335200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:68334600-68335200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:68334600-68335400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:68334600-68335600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:68334600-68337200	Enhancers	Fetal Intestine Small	intestine
36	chr12:68334600-68337200	Enhancers	Fetal Lung	lung
37	chr12:68334600-68339000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr12:68334800-68335000	Enhancers	Brain Anterior Caudate	brain
39	chr12:68334800-68335000	Enhancers	Fetal Stomach	stomach
40	chr12:68334800-68335000	Enhancers	Left Ventricle	heart
41	chr12:68334800-68335000	Flanking Active TSS	A549	lung
42	chr12:68334800-68335200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr12:68334800-68335200	Flanking Active TSS	HSMMtube	muscle
44	chr12:68334800-68336400	Weak transcription	Colon Smooth Muscle	Colon

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