Variant report

Variant	rs1196816
Chromosome Location	chr12:105527011-105527012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105507638..105509835-chr12:105526539..105528222,2	K562	blood:
2	chr12:105523431..105527512-chr12:105529193..105532336,3	MCF-7	breast:
3	chr12:105526996..105528729-chr12:105529355..105531311,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11112414	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11610656	0.85[ASN][1000 genomes]
rs1196750	0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1196751	0.96[CEU][hapmap]
rs1196766	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1196767	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1196768	0.83[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs1196781	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs1196788	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs1196796	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs1196803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196804	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1196809	0.99[ASN][1000 genomes]
rs1196810	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196814	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1196821	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196822	0.98[ASN][1000 genomes]
rs1196826	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196827	0.95[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196828	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196829	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196835	0.94[ASN][1000 genomes]
rs1196836	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1196837	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1196838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1196840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1196843	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196846	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196850	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196854	0.94[ASN][1000 genomes]
rs1196855	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196856	0.94[ASN][1000 genomes]
rs1196858	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196860	0.94[ASN][1000 genomes]
rs1196865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1196866	0.96[ASN][1000 genomes]
rs1196867	0.96[ASN][1000 genomes]
rs1196868	0.96[ASN][1000 genomes]
rs1196870	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196876	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196877	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196878	0.98[ASN][1000 genomes]
rs1196883	0.88[CEU][hapmap]
rs1201657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1201658	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17036869	0.81[CHB][hapmap]
rs1732371	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1732378	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1732379	0.93[ASN][1000 genomes]
rs1732384	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2264066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2374448	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs2440708	0.86[JPT][hapmap]
rs2440713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2440717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2440719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727888	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs7310488	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs9143	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv1826054	chr12:105505809-105568176	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1049296	chr12:105518764-105566079	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105503800-105544200	Weak transcription	Aorta	Aorta
2	chr12:105505200-105530000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:105505200-105531000	Strong transcription	HMEC	breast
4	chr12:105505200-105542600	Strong transcription	Fetal Thymus	thymus
5	chr12:105505200-105559800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:105505200-105564000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:105505200-105567400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:105505200-105573000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:105505600-105530800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:105505600-105535200	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr12:105505600-105537200	Strong transcription	Osteobl	bone
12	chr12:105505600-105550000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr12:105505600-105573200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:105505800-105571400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr12:105506000-105529000	Strong transcription	Primary hematopoietic stem cells	blood
16	chr12:105506000-105536800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:105506000-105537200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:105506400-105544600	Strong transcription	NHDF-Ad	bronchial
19	chr12:105506400-105573000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:105506600-105549200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:105506800-105568800	Strong transcription	Dnd41	blood
22	chr12:105506800-105572400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:105507000-105528400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:105507000-105573200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr12:105507200-105571400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr12:105507400-105565600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr12:105507600-105527800	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:105507600-105571400	Strong transcription	HUVEC	blood vessel
29	chr12:105507600-105572800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:105507800-105563800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:105507800-105573200	Strong transcription	Placenta	Placenta
32	chr12:105508000-105549200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:105508000-105550400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:105508000-105565400	Strong transcription	Adipose Nuclei	Adipose
35	chr12:105508200-105572800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:105508400-105528000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:105508400-105531800	Strong transcription	Fetal Lung	lung
38	chr12:105508400-105562000	Strong transcription	Primary B cells from cord blood	blood
39	chr12:105508600-105532400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:105508600-105536600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:105508600-105573000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:105508800-105565000	Strong transcription	Liver	Liver
43	chr12:105509200-105531400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr12:105509400-105527200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:105509600-105531200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:105510000-105565200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:105513800-105567800	Weak transcription	Pancreas	Pancrea
48	chr12:105514800-105533400	Weak transcription	NHEK	skin
49	chr12:105515000-105531600	Strong transcription	A549	lung
50	chr12:105515200-105557600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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