Variant report

Variant	rs12615166
Chromosome Location	chr2:173986305-173986306
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	chr2:173969673..173972260-chr2:173985916..173987500,2	MCF-7	breast:
2	chr2:173985743..173988657-chr2:173992178..173994964,4	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10930579	0.83[ASN][1000 genomes]
rs12986917	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12987496	0.84[ASN][1000 genomes]
rs12989116	0.85[ASN][1000 genomes]
rs12990553	0.81[ASN][1000 genomes]
rs12997078	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12998711	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13004212	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13017210	0.83[AFR][1000 genomes]
rs13017438	0.83[ASN][1000 genomes]
rs13029949	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13032010	0.87[ASN][1000 genomes]
rs17302977	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2076857	0.86[ASN][1000 genomes]
rs2289397	0.83[ASN][1000 genomes]
rs2289399	0.83[ASN][1000 genomes]
rs34014656	0.81[ASN][1000 genomes]
rs34472765	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs34681024	0.81[ASN][1000 genomes]
rs34702663	0.85[ASN][1000 genomes]
rs34862313	0.88[EUR][1000 genomes]
rs35250703	0.84[ASN][1000 genomes]
rs36102078	0.84[ASN][1000 genomes]
rs36103648	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3754741	0.83[ASN][1000 genomes]
rs3754743	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3754744	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769157	0.80[ASN][1000 genomes]
rs3769161	0.84[ASN][1000 genomes]
rs3769167	0.83[ASN][1000 genomes]
rs3769187	0.94[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769192	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769194	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769199	0.83[ASN][1000 genomes]
rs4972533	0.80[ASN][1000 genomes]
rs55913048	0.83[ASN][1000 genomes]
rs56151459	0.87[ASN][1000 genomes]
rs56193548	0.84[ASN][1000 genomes]
rs56342397	0.85[ASN][1000 genomes]
rs67422536	0.83[AFR][1000 genomes]
rs71417423	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72905080	0.88[AFR][1000 genomes];0.84[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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:173965000-173987400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:173965400-173987200	Weak transcription	Dnd41	blood
5	chr2:173965400-173989200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:173968600-173990600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:173969200-173987600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:173974400-174005200	Weak transcription	Fetal Intestine Small	intestine
9	chr2:173974800-173988600	Weak transcription	HSMM	muscle
10	chr2:173974800-173991400	Weak transcription	K562	blood
11	chr2:173978200-173995200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:173980600-173989200	Weak transcription	Esophagus	oesophagus
13	chr2:173981000-174000800	Weak transcription	Fetal Thymus	thymus
14	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
15	chr2:173983200-173986800	Enhancers	NHDF-Ad	bronchial
16	chr2:173983200-173987200	Enhancers	Psoas Muscle	Psoas
17	chr2:173983800-173986600	Weak transcription	Fetal Intestine Large	intestine
18	chr2:173984200-174000200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:173984400-173986400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:173984400-173986800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:173984400-173989000	Weak transcription	Lung	lung
22	chr2:173984400-173989000	Weak transcription	Right Atrium	heart
23	chr2:173984400-173994200	Weak transcription	Gastric	stomach
24	chr2:173984400-173994600	Weak transcription	Pancreas	Pancrea
25	chr2:173984600-173989000	Weak transcription	Aorta	Aorta
26	chr2:173984600-173994800	Weak transcription	Liver	Liver
27	chr2:173984600-173995400	Weak transcription	Fetal Stomach	stomach
28	chr2:173984800-173987800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:173984800-173991400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:173985000-173988600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:173985000-173989200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:173985200-173986800	Weak transcription	Fetal Heart	heart
33	chr2:173985200-173987400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:173985200-173987600	Weak transcription	HMEC	breast
35	chr2:173985200-173987800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:173985200-173995400	Weak transcription	Adipose Nuclei	Adipose
37	chr2:173985400-173986600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:173985400-173987200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:173985400-173987200	Weak transcription	Osteobl	bone
40	chr2:173985400-173988000	Weak transcription	GM12878-XiMat	blood
41	chr2:173985400-173988600	Weak transcription	Primary B cells from cord blood	blood
42	chr2:173985400-173995400	Weak transcription	Ovary	ovary
43	chr2:173985600-173986600	Strong transcription	Left Ventricle	heart
44	chr2:173985600-173987200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:173985600-173987800	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:173985800-173987000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:173985800-173987000	Strong transcription	A549	lung
48	chr2:173985800-173989200	Weak transcription	NH-A	brain
49	chr2:173985800-173989800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:173986000-173986800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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