Variant report

Variant	rs4931019
Chromosome Location	chr12:32746331-32746332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1004969	1.00[ASW][hapmap]
rs10506094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10844245	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10844246	0.81[AMR][1000 genomes]
rs10844248	0.83[AMR][1000 genomes]
rs11052070	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11052071	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11052072	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11052073	0.92[AMR][1000 genomes]
rs11052076	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11052078	0.82[ASN][1000 genomes]
rs11052079	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11052081	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11052082	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11052083	0.81[AMR][1000 genomes]
rs11052084	0.84[ASN][1000 genomes]
rs11052085	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11052087	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11052088	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11052092	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16920058	1.00[CHB][hapmap]
rs17538775	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17539491	1.00[ASW][hapmap]
rs17539848	1.00[ASW][hapmap]
rs2102043	0.87[ASN][1000 genomes]
rs35861269	0.83[AMR][1000 genomes]
rs4525322	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4575368	1.00[ASW][hapmap]
rs4931028	0.91[EUR][1000 genomes]
rs6488066	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs73081434	0.84[AMR][1000 genomes]
rs73081435	0.83[AMR][1000 genomes]
rs73081444	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73081467	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73100149	0.80[AMR][1000 genomes]
rs7313539	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7961549	1.00[CHB][hapmap];0.87[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4931019	H3F3C	cis	cerebellum	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

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	chr12:32715200-32753800	Weak transcription	Fetal Brain Female	brain
4	chr12:32715200-32760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:32720000-32764800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:32722600-32754400	Weak transcription	Colonic Mucosa	Colon
8	chr12:32722600-32757600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:32722600-32764800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:32722600-32764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:32722600-32764800	Weak transcription	Psoas Muscle	Psoas
12	chr12:32722600-32779400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:32723600-32756600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:32725200-32778600	Weak transcription	Fetal Brain Male	brain
15	chr12:32728600-32757000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:32731800-32753400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:32732400-32756600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:32733200-32764800	Weak transcription	Esophagus	oesophagus
19	chr12:32735400-32758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:32735400-32765000	Weak transcription	Small Intestine	intestine
21	chr12:32735600-32754400	Weak transcription	Aorta	Aorta
22	chr12:32735800-32753800	Weak transcription	Placenta	Placenta
23	chr12:32736200-32746400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:32736200-32764000	Weak transcription	Brain Germinal Matrix	brain
25	chr12:32736400-32754200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:32736400-32760200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:32736600-32747000	Weak transcription	Ovary	ovary
28	chr12:32736600-32757000	Weak transcription	HepG2	liver
29	chr12:32736800-32757400	Weak transcription	Fetal Kidney	kidney
30	chr12:32737200-32754200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:32739000-32747000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:32739000-32757000	Weak transcription	Gastric	stomach
33	chr12:32739600-32754400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:32739600-32760200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:32739800-32747600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:32739800-32753600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:32739800-32753600	Weak transcription	NH-A	brain
38	chr12:32739800-32756800	Weak transcription	NHDF-Ad	bronchial
39	chr12:32739800-32764600	Weak transcription	NHLF	lung
40	chr12:32740200-32746800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:32740600-32756200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:32740800-32747400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr12:32741000-32747600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr12:32741000-32747800	Strong transcription	HSMM	muscle
45	chr12:32741200-32747600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:32741200-32762000	Weak transcription	Right Ventricle	heart
47	chr12:32741600-32754000	Weak transcription	Brain Angular Gyrus	brain
48	chr12:32741600-32761200	Weak transcription	Brain Anterior Caudate	brain
49	chr12:32741800-32754000	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:32741800-32769600	Weak transcription	Stomach Mucosa	stomach

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