Variant report

Variant	rs12257242
Chromosome Location	chr10:50291400-50291401
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs12244666	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12244748	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12253426	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12255090	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12256777	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12261297	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12269023	0.80[CEU][hapmap];0.94[CHB][hapmap]
rs12765281	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs12769361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12774293	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12776460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011744	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17011746	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17011757	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17700872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17701186	0.88[EUR][1000 genomes]
rs17773851	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs2003044	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs2137911	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2137912	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2137914	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2246463	0.94[CHB][hapmap]
rs2246673	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2246937	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2264846	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2264847	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2490838	0.85[EUR][1000 genomes]
rs2725179	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs2725181	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs2725184	0.86[EUR][1000 genomes]
rs2725185	0.86[EUR][1000 genomes]
rs2725190	0.85[EUR][1000 genomes]
rs2804937	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs34062275	0.87[EUR][1000 genomes]
rs34110351	0.88[EUR][1000 genomes]
rs34289781	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34364659	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34467986	0.88[EUR][1000 genomes]
rs34574986	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34640094	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34878380	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35341824	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35462783	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35905744	0.88[EUR][1000 genomes]
rs35922675	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3924984	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs3924985	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs4073138	0.86[EUR][1000 genomes]
rs4073139	0.87[EUR][1000 genomes]
rs4128908	0.88[CHB][hapmap]
rs4240498	0.94[CHB][hapmap]
rs4364979	0.86[EUR][1000 genomes]
rs4400713	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4402204	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4403731	0.81[CEU][hapmap];0.89[CHB][hapmap]
rs4421674	0.94[CHB][hapmap]
rs4445564	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4468264	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4481947	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4497319	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4508127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4550151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4600129	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4644582	0.86[EUR][1000 genomes]
rs55947405	0.86[EUR][1000 genomes]
rs56291725	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58154726	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58893558	0.86[EUR][1000 genomes]
rs6537493	0.81[CEU][hapmap];0.89[CHB][hapmap]
rs6537494	0.94[CHB][hapmap]
rs67269950	0.88[EUR][1000 genomes]
rs68065270	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7070387	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7073208	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7074818	0.94[CHB][hapmap]
rs7081243	0.88[EUR][1000 genomes]
rs7084112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7085823	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7088718	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7097933	0.80[CEU][hapmap];0.94[CHB][hapmap]
rs7098134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7100655	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs72785015	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7896344	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7897289	0.89[CHB][hapmap]
rs7904272	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7906722	0.88[CHB][hapmap]
rs7907959	0.97[ASN][1000 genomes]
rs7916825	0.89[CHB][hapmap]
rs9804403	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	esv2761593	chr10:50276812-50336129	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50272600-50294200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr10:50283200-50298200	Weak transcription	Spleen	Spleen
3	chr10:50284800-50292400	Enhancers	Liver	Liver
4	chr10:50285200-50292400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr10:50286000-50292400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:50287200-50292200	Enhancers	Adipose Nuclei	Adipose
7	chr10:50287200-50292400	Enhancers	Brain Substantia Nigra	brain
8	chr10:50288000-50291400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr10:50288000-50291400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr10:50288200-50291400	Enhancers	Brain Angular Gyrus	brain
11	chr10:50288200-50292000	Enhancers	Fetal Muscle Trunk	muscle
12	chr10:50288200-50292000	Genic enhancers	Fetal Stomach	stomach
13	chr10:50288200-50292200	Enhancers	Colon Smooth Muscle	Colon
14	chr10:50288200-50292200	Enhancers	Left Ventricle	heart
15	chr10:50288200-50292200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr10:50288200-50293200	Enhancers	Right Ventricle	heart
17	chr10:50288400-50291400	Enhancers	Brain Cingulate Gyrus	brain
18	chr10:50288400-50291600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr10:50288400-50292400	Enhancers	Brain Hippocampus Middle	brain
20	chr10:50288400-50292600	Enhancers	Brain Anterior Caudate	brain
21	chr10:50288400-50292800	Enhancers	Ovary	ovary
22	chr10:50288400-50293600	Enhancers	HSMMtube	muscle
23	chr10:50288600-50291600	Enhancers	Placenta	Placenta
24	chr10:50288600-50292200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:50289000-50291400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:50289000-50291400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:50289000-50291800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:50289000-50291800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr10:50289000-50292200	Enhancers	Fetal Brain Male	brain
30	chr10:50289000-50294200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr10:50289200-50291600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr10:50289200-50292200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:50289200-50292200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr10:50289200-50294400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr10:50289400-50291400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:50289400-50291600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr10:50289400-50291800	Enhancers	Fetal Kidney	kidney
38	chr10:50289400-50292200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr10:50289400-50294200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr10:50289600-50298800	Weak transcription	Fetal Thymus	thymus
41	chr10:50289800-50292000	Weak transcription	Psoas Muscle	Psoas
42	chr10:50290000-50291600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr10:50290200-50293000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:50290200-50298200	Weak transcription	Colonic Mucosa	Colon
45	chr10:50290400-50291400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:50290400-50292800	Weak transcription	Fetal Intestine Large	intestine
47	chr10:50290400-50295000	Weak transcription	K562	blood
48	chr10:50290800-50291800	Enhancers	Brain Germinal Matrix	brain
49	chr10:50290800-50292000	Enhancers	Fetal Brain Female	brain
50	chr10:50290800-50292200	Enhancers	Right Atrium	heart

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