Variant report

Variant	rs4073139
Chromosome Location	chr10:50347140-50347141
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50345704..50347282-chr10:50347596..50350389,2	K562	blood:
2	chr10:50341771..50344266-chr10:50346312..50348663,3	K562	blood:

Variant related genes	Relation type
ENSG00000172538	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11100989	0.88[ASN][1000 genomes]
rs11100990	0.88[ASN][1000 genomes]
rs12240534	0.84[ASN][1000 genomes]
rs12244666	0.82[EUR][1000 genomes]
rs12244748	0.82[EUR][1000 genomes]
rs12253426	0.82[EUR][1000 genomes]
rs12255055	0.84[ASN][1000 genomes]
rs12255090	0.82[EUR][1000 genomes]
rs12256777	0.83[EUR][1000 genomes]
rs12257242	0.87[EUR][1000 genomes]
rs12261297	0.84[EUR][1000 genomes]
rs12267388	0.88[ASN][1000 genomes]
rs12765281	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12769361	0.87[EUR][1000 genomes]
rs12776460	0.87[EUR][1000 genomes]
rs12776553	0.85[ASN][1000 genomes]
rs17011744	0.83[EUR][1000 genomes]
rs17011746	0.83[EUR][1000 genomes]
rs17011757	0.84[EUR][1000 genomes]
rs17700872	0.87[EUR][1000 genomes]
rs17701186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17773851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17782733	0.84[ASN][1000 genomes]
rs1986725	0.96[ASN][1000 genomes]
rs2003044	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2490838	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2725179	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2725181	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2725184	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2725185	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2725190	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804931	0.83[ASN][1000 genomes]
rs2804932	0.81[ASN][1000 genomes]
rs2804934	0.89[ASN][1000 genomes]
rs2804937	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2804939	0.96[ASN][1000 genomes]
rs2804940	0.96[ASN][1000 genomes]
rs2804941	0.96[ASN][1000 genomes]
rs34056748	0.91[ASN][1000 genomes]
rs34062275	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34110351	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34289781	0.86[EUR][1000 genomes]
rs34364659	0.87[EUR][1000 genomes]
rs34436721	1.00[ASN][1000 genomes]
rs34467986	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34574986	0.87[EUR][1000 genomes]
rs34589684	0.98[ASN][1000 genomes]
rs34640094	0.87[EUR][1000 genomes]
rs34786393	0.91[ASN][1000 genomes]
rs34878380	0.87[EUR][1000 genomes]
rs35007047	0.88[ASN][1000 genomes]
rs35285557	0.85[ASN][1000 genomes]
rs35341824	0.83[EUR][1000 genomes]
rs35462783	0.82[EUR][1000 genomes]
rs35666409	0.85[ASN][1000 genomes]
rs35922675	0.87[EUR][1000 genomes]
rs4073138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073711	0.84[ASN][1000 genomes]
rs4350286	0.90[ASN][1000 genomes]
rs4364979	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4400713	0.83[EUR][1000 genomes]
rs4402204	0.82[EUR][1000 genomes]
rs4445564	0.85[EUR][1000 genomes]
rs4495812	0.97[ASN][1000 genomes]
rs4497320	0.87[ASN][1000 genomes]
rs4508127	0.84[EUR][1000 genomes]
rs4600129	0.84[EUR][1000 genomes]
rs4644582	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55947405	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56291725	0.87[EUR][1000 genomes]
rs58154726	0.86[EUR][1000 genomes]
rs58893558	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67269950	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68065270	0.86[EUR][1000 genomes]
rs7070387	0.81[EUR][1000 genomes]
rs7073208	0.82[EUR][1000 genomes]
rs7081243	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7085823	0.83[EUR][1000 genomes]
rs7088718	0.82[EUR][1000 genomes]
rs7100655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72785015	0.87[EUR][1000 genomes]
rs7896344	0.81[EUR][1000 genomes]
rs9804403	0.80[EUR][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	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
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50340400-50347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:50342200-50349800	Enhancers	Fetal Lung	lung
3	chr10:50343000-50357800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:50344000-50347600	Weak transcription	Right Ventricle	heart
5	chr10:50344200-50347600	Weak transcription	Esophagus	oesophagus
6	chr10:50344200-50352200	Weak transcription	Fetal Thymus	thymus
7	chr10:50344400-50347400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:50345600-50349600	Enhancers	Fetal Muscle Leg	muscle
9	chr10:50345800-50349000	Enhancers	Fetal Stomach	stomach
10	chr10:50345800-50349200	Enhancers	Fetal Muscle Trunk	muscle
11	chr10:50346200-50347200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:50346200-50347400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:50346200-50347400	Enhancers	NH-A	brain
14	chr10:50346200-50349000	Enhancers	Adipose Nuclei	Adipose
15	chr10:50346200-50349800	Enhancers	NHLF	lung
16	chr10:50346200-50354400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:50346400-50347400	Enhancers	HSMM	muscle
18	chr10:50346400-50347600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:50346400-50347800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr10:50346400-50349600	Enhancers	Ovary	ovary
21	chr10:50346600-50347400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr10:50346600-50347600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:50346600-50348800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:50346600-50349600	Enhancers	HSMMtube	muscle
25	chr10:50346600-50350600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr10:50346800-50347800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr10:50346800-50347800	Flanking Active TSS	Osteobl	bone
28	chr10:50346800-50348000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:50346800-50348000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr10:50346800-50348000	Enhancers	Duodenum Mucosa	Duodenum
31	chr10:50346800-50348000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr10:50346800-50348200	Enhancers	Stomach Smooth Muscle	stomach
33	chr10:50346800-50348800	Enhancers	Right Atrium	heart
34	chr10:50346800-50349000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr10:50346800-50349000	Enhancers	Left Ventricle	heart
36	chr10:50346800-50349000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr10:50346800-50349200	Enhancers	Placenta	Placenta
38	chr10:50346800-50351800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr10:50347000-50347400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr10:50347000-50347400	Enhancers	NHDF-Ad	bronchial
41	chr10:50347000-50348200	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr10:50347000-50348200	Enhancers	Stomach Mucosa	stomach
43	chr10:50347000-50348800	Enhancers	Colonic Mucosa	Colon
44	chr10:50347000-50349000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:50347000-50349000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr10:50347000-50349800	Enhancers	K562	blood

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