Variant report

Variant	rs4931644
Chromosome Location	chr12:32774846-32774847
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32767811..32770766-chr12:32773377..32776313,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1004969	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052111	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052112	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052113	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052115	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052116	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052119	1.00[ASN][1000 genomes]
rs12299270	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299609	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299979	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300443	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300477	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300666	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300734	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307670	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307858	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311077	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312688	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312968	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314101	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314420	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314569	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321158	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321285	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322190	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16920101	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17539491	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17539792	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17539848	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995226	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995227	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34174320	1.00[ASN][1000 genomes]
rs4575368	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931029	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931030	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931031	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931645	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931646	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931647	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55938059	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56110646	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56150065	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56352987	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59860008	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66996003	1.00[ASN][1000 genomes]
rs73083459	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083465	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083468	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083477	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083486	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083489	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083495	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083501	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085430	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085442	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73087441	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73087445	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488806	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
3	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:32722600-32779400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:32725200-32778600	Weak transcription	Fetal Brain Male	brain
6	chr12:32744200-32797600	Weak transcription	Fetal Heart	heart
7	chr12:32754200-32795200	Weak transcription	Primary B cells from cord blood	blood
8	chr12:32755000-32775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:32755400-32800600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:32756200-32789800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:32757000-32783400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:32757400-32799600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:32757600-32798000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:32757800-32778800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:32757800-32797800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:32758400-32799400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:32758600-32780800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:32758600-32797800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:32758600-32799600	Strong transcription	Liver	Liver
20	chr12:32758600-32800400	Strong transcription	HSMM	muscle
21	chr12:32758800-32799600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:32759800-32795000	Weak transcription	Fetal Kidney	kidney
23	chr12:32760200-32795000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:32760600-32793200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:32762800-32799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:32764600-32777600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:32765200-32794000	Weak transcription	NHLF	lung
28	chr12:32765400-32777400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:32765400-32778000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:32765400-32780800	Weak transcription	Pancreas	Pancrea
31	chr12:32765400-32784800	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:32765400-32789000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:32765400-32790400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:32765600-32776400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:32765600-32778600	Weak transcription	Spleen	Spleen
36	chr12:32765600-32780400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:32765800-32778600	Weak transcription	Small Intestine	intestine
38	chr12:32765800-32797000	Strong transcription	Adipose Nuclei	Adipose
39	chr12:32766200-32778600	Weak transcription	Colonic Mucosa	Colon
40	chr12:32766400-32777200	Weak transcription	Brain Germinal Matrix	brain
41	chr12:32766400-32777800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:32766400-32780200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:32766600-32783400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:32767400-32775400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:32767400-32776800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:32767400-32778200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:32767400-32790600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:32767400-32797000	Weak transcription	Psoas Muscle	Psoas
49	chr12:32768200-32775400	Strong transcription	Left Ventricle	heart
50	chr12:32768400-32799800	Weak transcription	NHDF-Ad	bronchial

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