Variant report

Variant	rs1245185
Chromosome Location	chr12:65061265-65061266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65060197..65063075-chr12:65066604..65068445,2	K562	blood:
2	chr12:65056764..65058467-chr12:65059357..65061910,2	K562	blood:
3	chr12:65052809..65057166-chr12:65058772..65061911,4	MCF-7	breast:
4	chr12:65057089..65063734-chr12:65063788..65069344,8	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10784417	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10784418	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11175483	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175484	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1147105	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1147107	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1244869	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1244873	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1244878	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1245168	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1245169	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1245179	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1245180	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1245181	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1245183	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1245184	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1245186	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1245187	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1264485	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1268914	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1270437	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1270836	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1270837	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1272547	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383117	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1690259	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1690272	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1690273	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716490	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1716496	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1716506	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1716517	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1795613	0.93[ASN][1000 genomes]
rs1795618	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1795621	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795622	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1795624	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1795625	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1797677	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1797678	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1797679	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1797684	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1797688	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1797689	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2464347	0.93[ASN][1000 genomes]
rs2620730	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2682714	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2682716	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2682719	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2682728	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2701849	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2701850	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968403	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7971636	0.93[ASN][1000 genomes]
rs7975455	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65047800-65063000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:65048000-65063000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:65048400-65062200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:65049200-65062200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:65054800-65061400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:65056200-65062200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:65056400-65061800	Enhancers	Hela-S3	cervix
8	chr12:65056800-65061400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:65057200-65063000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:65057800-65063200	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:65058200-65062000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:65058200-65062600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:65058200-65062600	Enhancers	Psoas Muscle	Psoas
14	chr12:65058200-65064400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:65058400-65063000	Enhancers	Primary B cells from cord blood	blood
16	chr12:65058400-65069600	Enhancers	Small Intestine	intestine
17	chr12:65058600-65061800	Enhancers	Ovary	ovary
18	chr12:65058800-65062200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:65058800-65062200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr12:65058800-65062400	Enhancers	Right Atrium	heart
21	chr12:65058800-65063000	Enhancers	HepG2	liver
22	chr12:65058800-65063200	Enhancers	K562	blood
23	chr12:65058800-65066600	Enhancers	Stomach Mucosa	stomach
24	chr12:65058800-65070000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr12:65059000-65061800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:65059000-65063000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr12:65059000-65063000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:65059000-65065800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:65059200-65061400	Enhancers	Fetal Intestine Small	intestine
30	chr12:65059200-65061800	Enhancers	Colon Smooth Muscle	Colon
31	chr12:65059200-65062600	Enhancers	Left Ventricle	heart
32	chr12:65059200-65062600	Enhancers	Lung	lung
33	chr12:65059200-65063000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr12:65059400-65061600	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr12:65059400-65061600	Enhancers	Fetal Muscle Leg	muscle
36	chr12:65059400-65062200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:65059400-65062200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:65059400-65062400	Enhancers	Colonic Mucosa	Colon
39	chr12:65059400-65062600	Enhancers	Pancreas	Pancrea
40	chr12:65059400-65063000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:65059400-65063000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr12:65059400-65065200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr12:65059400-65066000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr12:65059400-65068800	Enhancers	Fetal Intestine Large	intestine
45	chr12:65059600-65062800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:65059600-65063000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:65059600-65063000	Enhancers	Fetal Thymus	thymus
48	chr12:65059600-65064600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:65059800-65061400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:65059800-65061400	Weak transcription	Monocytes-CD14+_RO01746	blood

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