Variant report

Variant	rs4509682
Chromosome Location	chr10:50313621-50313622
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	chr10:50308627..50310723-chr10:50311028..50313744,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11100984	0.86[JPT][hapmap]
rs11100988	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11100989	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11100990	0.88[CEU][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12240534	0.83[AMR][1000 genomes]
rs12245255	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs12246766	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12255055	0.86[ASW][hapmap];0.87[CEU][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12267388	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12269023	0.82[TSI][hapmap];0.81[AMR][1000 genomes]
rs12776553	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12777282	0.82[CHB][hapmap]
rs13088	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1986725	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs2377983	0.81[YRI][hapmap]
rs2804934	0.86[GIH][hapmap]
rs2804939	0.88[CEU][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs2804940	0.87[EUR][1000 genomes]
rs35666409	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36015645	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4073711	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4073712	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs4129035	0.80[AMR][1000 genomes]
rs4240499	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4240500	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4265516	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs4298825	0.92[CHB][hapmap]
rs4317903	0.81[AMR][1000 genomes]
rs4317904	0.81[JPT][hapmap]
rs4344406	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4350286	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4403731	0.84[AMR][1000 genomes]
rs4412679	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4417190	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4421675	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs4488117	0.92[CHB][hapmap]
rs4497320	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4532948	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4558089	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs4558091	1.00[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4559606	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4620641	0.80[ASW][hapmap];0.92[CEU][hapmap];0.98[GIH][hapmap];0.86[LWK][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4838365	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4838367	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4838446	1.00[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4838447	0.92[CEU][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6537497	0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.91[TSI][hapmap]
rs7069758	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs7072243	0.86[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.86[LWK][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7079570	0.92[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs7097933	0.85[ASW][hapmap];0.81[TSI][hapmap];0.84[AMR][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	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
3	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv1824894	chr10:50309905-50340304	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50290800-50315400	Weak transcription	Fetal Intestine Small	intestine
2	chr10:50298600-50314400	Weak transcription	NHDF-Ad	bronchial
3	chr10:50299600-50314400	Weak transcription	HSMMtube	muscle
4	chr10:50300800-50314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:50303200-50314600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr10:50303400-50314400	Weak transcription	Brain Anterior Caudate	brain
7	chr10:50303600-50314400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:50303600-50314400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:50303800-50314600	Weak transcription	Esophagus	oesophagus
10	chr10:50304000-50314400	Weak transcription	Brain Angular Gyrus	brain
11	chr10:50304600-50314400	Weak transcription	Liver	Liver
12	chr10:50304800-50317600	Weak transcription	Fetal Heart	heart
13	chr10:50305400-50314400	Weak transcription	NHLF	lung
14	chr10:50306400-50314600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:50307400-50314200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:50307400-50314400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr10:50310200-50314400	Weak transcription	Adipose Nuclei	Adipose
18	chr10:50310800-50314400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:50311800-50317800	Weak transcription	Fetal Intestine Large	intestine
20	chr10:50312000-50314400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:50312200-50320400	Enhancers	Colon Smooth Muscle	Colon
22	chr10:50312400-50315600	Enhancers	Brain Germinal Matrix	brain
23	chr10:50312400-50316200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr10:50312600-50314600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:50312600-50314600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr10:50312600-50314600	Weak transcription	Lung	lung
27	chr10:50312600-50316400	Weak transcription	K562	blood
28	chr10:50312600-50317000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr10:50312600-50322800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:50312800-50314000	Enhancers	Fetal Stomach	stomach
31	chr10:50312800-50314400	Weak transcription	Left Ventricle	heart
32	chr10:50312800-50314600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr10:50312800-50315000	Weak transcription	Aorta	Aorta
34	chr10:50313200-50314400	Weak transcription	Brain Hippocampus Middle	brain
35	chr10:50313400-50313800	Enhancers	Rectal Smooth Muscle	rectum
36	chr10:50313400-50314600	Weak transcription	Right Ventricle	heart
37	chr10:50313400-50314800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:50313600-50313800	Flanking Active TSS	Fetal Lung	lung
39	chr10:50313600-50313800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr10:50313600-50314400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr10:50313600-50314400	Weak transcription	Ovary	ovary
42	chr10:50313600-50314600	Weak transcription	Fetal Brain Female	brain
43	chr10:50313600-50314600	Weak transcription	Fetal Muscle Leg	muscle
44	chr10:50313600-50314600	Weak transcription	Right Atrium	heart
45	chr10:50313600-50315800	Enhancers	Brain Substantia Nigra	brain

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