Variant report

Variant	rs4497319
Chromosome Location	chr10:50272472-50272473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50209257..50210052-chr10:50272111..50272923,2	MCF-7	breast:
2	chr10:50270742..50273259-chr10:50275431..50277377,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10508910	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12244666	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12244748	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12253426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12255090	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12256777	1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12257242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12261297	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs12269023	0.94[CHB][hapmap];0.94[CHD][hapmap]
rs12762834	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12762859	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12763447	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12769361	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12772732	0.93[EUR][1000 genomes]
rs12774117	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12774293	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs12776211	0.84[MEX][hapmap]
rs12776460	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12777282	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs17011744	0.98[ASN][1000 genomes]
rs17011746	0.98[ASN][1000 genomes]
rs17011757	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs17175928	1.00[CEU][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap];0.94[EUR][1000 genomes]
rs17700872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17782595	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17782649	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17782673	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17782691	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17782733	0.85[CEU][hapmap];0.84[TSI][hapmap]
rs2137911	0.92[ASN][1000 genomes]
rs2137912	1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[ASN][1000 genomes]
rs2137914	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2246463	0.94[CHB][hapmap];0.94[CHD][hapmap]
rs2246673	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs2246796	0.89[YRI][hapmap]
rs2246937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2250146	0.84[GIH][hapmap];0.89[MEX][hapmap]
rs2264846	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs2264847	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs2943254	0.80[AMR][1000 genomes]
rs34289781	0.94[ASN][1000 genomes]
rs34347666	0.94[EUR][1000 genomes]
rs34364659	0.97[ASN][1000 genomes]
rs34373855	0.94[EUR][1000 genomes]
rs34574986	0.97[ASN][1000 genomes]
rs34640094	0.97[ASN][1000 genomes]
rs34712064	0.94[EUR][1000 genomes]
rs34878380	0.97[ASN][1000 genomes]
rs35311796	0.93[EUR][1000 genomes]
rs35341824	0.98[ASN][1000 genomes]
rs35462783	1.00[ASN][1000 genomes]
rs35496464	0.91[EUR][1000 genomes]
rs35586957	0.85[EUR][1000 genomes]
rs35621290	0.93[EUR][1000 genomes]
rs35922675	0.97[ASN][1000 genomes]
rs3924984	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3924985	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4012666	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4128908	0.94[CHB][hapmap]
rs4240498	0.94[CHB][hapmap];1.00[CHD][hapmap]
rs4293050	1.00[CEU][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap];0.93[EUR][1000 genomes]
rs4298825	0.85[CEU][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs4310535	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4317904	0.80[CHD][hapmap]
rs4342944	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4400713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4402204	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4403731	0.94[CHB][hapmap]
rs4421674	0.94[CHB][hapmap];0.90[CHD][hapmap]
rs4468264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4481947	0.94[ASN][1000 genomes]
rs4483510	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4488117	0.85[CEU][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs4508127	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4550151	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4600129	0.90[ASN][1000 genomes]
rs56291725	0.97[ASN][1000 genomes]
rs58154726	0.94[ASN][1000 genomes]
rs6537493	0.94[CHB][hapmap]
rs6537494	0.94[CHB][hapmap];1.00[CHD][hapmap]
rs68065270	0.94[ASN][1000 genomes]
rs7070387	0.98[ASN][1000 genomes]
rs7073208	1.00[ASN][1000 genomes]
rs7074818	0.94[CHB][hapmap];1.00[CHD][hapmap]
rs7082096	0.84[MEX][hapmap]
rs7084112	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7085823	1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7088718	0.99[ASN][1000 genomes]
rs7097933	0.94[CHB][hapmap];0.94[CHD][hapmap]
rs7098134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71500261	0.84[EUR][1000 genomes]
rs71500264	0.94[EUR][1000 genomes]
rs71500265	0.83[EUR][1000 genomes]
rs72785015	0.98[ASN][1000 genomes]
rs7896344	0.98[ASN][1000 genomes]
rs7897289	0.94[CHB][hapmap]
rs7904272	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7906722	0.94[CHB][hapmap]
rs7907959	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916825	0.94[CHB][hapmap]
rs9804403	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[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	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50222800-50279000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:50232400-50279200	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:50243800-50278800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr10:50247000-50282600	Weak transcription	Brain Angular Gyrus	brain
5	chr10:50254400-50278800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:50266600-50289400	Weak transcription	Colonic Mucosa	Colon
7	chr10:50266800-50278600	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:50267200-50288400	Weak transcription	NHLF	lung
9	chr10:50267600-50276400	Weak transcription	Left Ventricle	heart
10	chr10:50267800-50276400	Weak transcription	Right Atrium	heart
11	chr10:50270600-50272600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:50270600-50284200	Weak transcription	Fetal Intestine Large	intestine
13	chr10:50270800-50273600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr10:50270800-50279600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:50271000-50272600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:50271000-50272600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:50271200-50273400	Strong transcription	Fetal Muscle Leg	muscle
18	chr10:50271200-50279400	Weak transcription	Liver	Liver
19	chr10:50271400-50273800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:50271400-50273800	Strong transcription	Fetal Stomach	stomach
21	chr10:50271400-50274200	Strong transcription	Fetal Lung	lung
22	chr10:50271600-50272600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:50271600-50272600	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr10:50271600-50273600	Strong transcription	Ovary	ovary
25	chr10:50271600-50273800	Strong transcription	Aorta	Aorta
26	chr10:50271600-50273800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr10:50271600-50285200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr10:50271800-50272600	Strong transcription	Right Ventricle	heart
29	chr10:50271800-50273600	Strong transcription	NHDF-Ad	bronchial
30	chr10:50271800-50273800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr10:50272000-50278800	Weak transcription	HSMMtube	muscle
32	chr10:50272200-50279200	Weak transcription	Adipose Nuclei	Adipose
33	chr10:50272200-50279600	Weak transcription	Fetal Intestine Small	intestine
34	chr10:50272200-50283200	Weak transcription	Brain Anterior Caudate	brain
35	chr10:50272400-50279800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:50272400-50283000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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