Variant report

Variant	rs10878244
Chromosome Location	chr12:40631608-40631609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10506143	1.00[JPT][hapmap]
rs10506144	1.00[JPT][hapmap]
rs10506146	1.00[JPT][hapmap]
rs10506153	0.81[GIH][hapmap];1.00[ASN][1000 genomes]
rs10878246	0.93[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175186	1.00[JPT][hapmap]
rs11175655	0.81[GIH][hapmap]
rs11564108	1.00[JPT][hapmap]
rs11564123	1.00[JPT][hapmap]
rs11564128	1.00[ASN][1000 genomes]
rs11564131	1.00[JPT][hapmap]
rs11564152	1.00[JPT][hapmap]
rs11564153	1.00[JPT][hapmap]
rs11564175	1.00[ASN][1000 genomes]
rs11564177	0.81[GIH][hapmap];1.00[ASN][1000 genomes]
rs11564185	1.00[JPT][hapmap]
rs11564187	1.00[JPT][hapmap]
rs11564196	1.00[JPT][hapmap]
rs11564203	0.81[GIH][hapmap];1.00[ASN][1000 genomes]
rs11564204	1.00[ASN][1000 genomes]
rs11564205	0.81[GIH][hapmap];1.00[ASN][1000 genomes]
rs11564207	1.00[ASN][1000 genomes]
rs11564209	1.00[JPT][hapmap]
rs11564210	1.00[JPT][hapmap]
rs11564216	1.00[JPT][hapmap]
rs11564218	1.00[JPT][hapmap]
rs11564267	1.00[ASN][1000 genomes]
rs11564271	1.00[JPT][hapmap]
rs11829088	0.81[GIH][hapmap];1.00[ASN][1000 genomes]
rs11834950	1.00[ASN][1000 genomes]
rs12422544	1.00[JPT][hapmap]
rs12422796	1.00[JPT][hapmap]
rs12423419	1.00[JPT][hapmap]
rs12423551	1.00[JPT][hapmap]
rs12424294	1.00[JPT][hapmap]
rs12425561	1.00[JPT][hapmap]
rs12426378	1.00[JPT][hapmap]
rs12427022	1.00[JPT][hapmap]
rs12427245	1.00[JPT][hapmap]
rs1388585	1.00[JPT][hapmap]
rs1388597	1.00[JPT][hapmap]
rs1463717	1.00[JPT][hapmap]
rs1491936	1.00[ASN][1000 genomes]
rs17442853	0.82[YRI][hapmap]
rs17443552	1.00[ASN][1000 genomes]
rs17443600	1.00[JPT][hapmap]
rs17443656	1.00[JPT][hapmap]
rs17444054	1.00[JPT][hapmap]
rs17444096	1.00[ASN][1000 genomes]
rs17444542	1.00[ASN][1000 genomes]
rs17444612	1.00[ASN][1000 genomes]
rs17458230	1.00[JPT][hapmap]
rs17458836	0.82[YRI][hapmap]
rs17466016	1.00[JPT][hapmap]
rs17466430	1.00[ASN][1000 genomes]
rs17483919	1.00[JPT][hapmap]
rs17484141	1.00[JPT][hapmap]
rs17491061	1.00[ASN][1000 genomes]
rs17492082	1.00[ASN][1000 genomes]
rs17492138	1.00[ASN][1000 genomes]
rs17519573	0.93[CEU][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17520251	1.00[ASN][1000 genomes]
rs17520278	1.00[ASN][1000 genomes]
rs1907632	0.85[GIH][hapmap];1.00[ASN][1000 genomes]
rs1907633	1.00[ASN][1000 genomes]
rs2131081	1.00[JPT][hapmap]
rs28365169	1.00[JPT][hapmap]
rs28365173	1.00[JPT][hapmap]
rs28365206	1.00[JPT][hapmap]
rs28365229	1.00[JPT][hapmap]
rs4628750	1.00[JPT][hapmap]
rs4768213	1.00[JPT][hapmap]
rs4768226	1.00[JPT][hapmap]
rs4768228	1.00[JPT][hapmap]
rs57997594	1.00[ASN][1000 genomes]
rs60776971	1.00[ASN][1000 genomes]
rs61007767	1.00[ASN][1000 genomes]
rs73275761	1.00[ASN][1000 genomes]
rs73279554	1.00[ASN][1000 genomes]
rs73279557	1.00[ASN][1000 genomes]
rs9705735	1.00[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	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv1045408	chr12:40620554-40664424	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	nsv1042967	chr12:40629636-40710319	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40619400-40634600	Weak transcription	Spleen	Spleen
2	chr12:40619400-40644400	Weak transcription	Gastric	stomach
3	chr12:40619600-40636400	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:40619600-40661000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
6	chr12:40619800-40658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:40620400-40644200	Weak transcription	Brain Angular Gyrus	brain
8	chr12:40620800-40634800	Weak transcription	Lung	lung
9	chr12:40620800-40634800	Weak transcription	Pancreas	Pancrea
10	chr12:40620800-40644200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:40620800-40648000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:40620800-40659200	Weak transcription	Brain Anterior Caudate	brain
13	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
14	chr12:40621000-40632000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:40621000-40643800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:40621000-40659800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:40621000-40661200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:40621200-40631800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:40621200-40632000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:40621400-40632400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:40622800-40661000	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
23	chr12:40628400-40632000	Strong transcription	Primary B cells from cord blood	blood
24	chr12:40629200-40633400	Strong transcription	Adipose Nuclei	Adipose
25	chr12:40629200-40635600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:40629400-40632200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:40630000-40632000	Genic enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:40630600-40633000	Weak transcription	Aorta	Aorta
29	chr12:40630600-40633000	Weak transcription	Ovary	ovary
30	chr12:40630600-40643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:40630600-40669400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:40631000-40633200	Enhancers	Hela-S3	cervix
34	chr12:40631200-40633000	Weak transcription	Liver	Liver
35	chr12:40631200-40646600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:40631400-40631800	Weak transcription	A549	lung
37	chr12:40631400-40632000	Genic enhancers	Monocytes-CD14+_RO01746	blood
38	chr12:40631400-40632400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:40631400-40633200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:40631600-40632800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:40631600-40636200	Weak transcription	NHLF	lung

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