Variant report

Variant	rs4400713
Chromosome Location	chr10:50283907-50283908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50277084..50281077-chr10:50281316..50285114,4	MCF-7	breast:
2	chr10:50281055..50283973-chr10:50326395..50329291,2	K562	blood:

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

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

rs_ID	r²[population]
rs12244666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12244748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12253426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12255090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12256777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12257242	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12261297	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12269023	0.94[CHB][hapmap]
rs12765281	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs12769361	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12774293	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12776460	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17011744	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011746	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011757	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17700872	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17701186	0.83[EUR][1000 genomes]
rs17773851	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2003044	0.91[CEU][hapmap]
rs2137911	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2137912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2137914	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs2246463	0.94[CHB][hapmap]
rs2246673	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2246937	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs2264846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2264847	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2490838	0.81[EUR][1000 genomes]
rs2725179	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs2725181	0.91[CEU][hapmap]
rs2725184	0.82[EUR][1000 genomes]
rs2725185	0.82[EUR][1000 genomes]
rs2725190	0.81[EUR][1000 genomes]
rs2804937	0.91[CEU][hapmap]
rs34062275	0.83[EUR][1000 genomes]
rs34110351	0.83[EUR][1000 genomes]
rs34289781	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34364659	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34467986	0.83[EUR][1000 genomes]
rs34574986	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34640094	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34878380	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35341824	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35462783	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35905744	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35922675	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3924984	1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs3924985	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs4073138	0.82[EUR][1000 genomes]
rs4073139	0.83[EUR][1000 genomes]
rs4128908	0.83[CEU][hapmap];0.88[CHB][hapmap]
rs4240498	0.94[CHB][hapmap]
rs4364979	0.85[EUR][1000 genomes]
rs4402204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4403731	0.88[CHB][hapmap]
rs4421674	0.94[CHB][hapmap]
rs4445564	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4468264	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4481947	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4497319	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4508127	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4550151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4600129	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4644582	0.84[EUR][1000 genomes]
rs55947405	0.82[EUR][1000 genomes]
rs56291725	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58154726	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58893558	0.82[EUR][1000 genomes]
rs6537493	0.84[CEU][hapmap];0.88[CHB][hapmap]
rs6537494	0.94[CHB][hapmap]
rs67269950	0.83[EUR][1000 genomes]
rs68065270	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7070387	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7073208	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7074818	0.94[CHB][hapmap]
rs7081243	0.83[EUR][1000 genomes]
rs7084112	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7085823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7088718	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7097933	0.94[CHB][hapmap]
rs7098134	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7100655	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs72785015	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7896344	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7897289	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs7904272	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7906722	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs7907959	0.98[ASN][1000 genomes]
rs7916825	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs9804403	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50266600-50289400	Weak transcription	Colonic Mucosa	Colon
2	chr10:50267200-50288400	Weak transcription	NHLF	lung
3	chr10:50270600-50284200	Weak transcription	Fetal Intestine Large	intestine
4	chr10:50271600-50285200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr10:50272600-50294200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr10:50273600-50289800	Weak transcription	NHDF-Ad	bronchial
7	chr10:50276600-50288200	Weak transcription	Gastric	stomach
8	chr10:50277400-50284400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:50277600-50287200	Weak transcription	K562	blood
10	chr10:50279000-50284200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:50279600-50284600	Strong transcription	Aorta	Aorta
12	chr10:50279600-50284800	Weak transcription	Liver	Liver
13	chr10:50279600-50284800	Weak transcription	Thymus	Thymus
14	chr10:50279600-50285000	Strong transcription	Adipose Nuclei	Adipose
15	chr10:50279600-50285000	Strong transcription	Fetal Intestine Small	intestine
16	chr10:50279600-50285400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:50279600-50289200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr10:50279800-50285600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:50279800-50288600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr10:50280000-50284600	Weak transcription	Fetal Thymus	thymus
21	chr10:50280000-50285400	Strong transcription	Fetal Stomach	stomach
22	chr10:50280200-50285400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr10:50280600-50288200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:50280600-50288600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr10:50280800-50284000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr10:50280800-50285200	Weak transcription	Right Atrium	heart
27	chr10:50281000-50285200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:50281600-50285600	Genic enhancers	Fetal Muscle Leg	muscle
29	chr10:50281600-50288400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr10:50282400-50285600	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr10:50282400-50289400	Weak transcription	Fetal Kidney	kidney
32	chr10:50282600-50284400	Strong transcription	Right Ventricle	heart
33	chr10:50282600-50284800	Strong transcription	Brain Angular Gyrus	brain
34	chr10:50282600-50284800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr10:50282600-50285000	Strong transcription	Ovary	ovary
36	chr10:50282800-50284000	Weak transcription	HSMMtube	muscle
37	chr10:50282800-50284200	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:50282800-50285400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:50283000-50284200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:50283000-50284600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr10:50283200-50284400	Strong transcription	Brain Anterior Caudate	brain
42	chr10:50283200-50284600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr10:50283200-50284600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:50283200-50284800	Strong transcription	Colon Smooth Muscle	Colon
45	chr10:50283200-50286000	Enhancers	Primary hematopoietic stem cells	blood
46	chr10:50283200-50287000	Weak transcription	Lung	lung
47	chr10:50283200-50288600	Weak transcription	Placenta	Placenta
48	chr10:50283200-50298200	Weak transcription	Spleen	Spleen
49	chr10:50283400-50284400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr10:50283400-50284600	Strong transcription	Brain Substantia Nigra	brain

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