Variant report

Variant	rs10194747
Chromosome Location	chr2:184019278-184019279
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:184012662..184015271-chr2:184018990..184021565,2	K562	blood:
2	chr2:184018781..184021679-chr2:184025666..184028556,3	K562	blood:
3	chr2:184019137..184020799-chr2:184022946..184025022,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10167583	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11695124	0.83[EUR][1000 genomes]
rs13033866	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1400131	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1462532	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1462533	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1829122	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1882444	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2368375	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2368377	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2368382	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2675045	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2675046	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2675082	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2675087	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2675090	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2675102	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2675108	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2705727	0.81[AFR][1000 genomes]
rs2705760	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2944353	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2952361	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2952363	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3791249	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4599071	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4666891	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4666894	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4666897	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6705441	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6709729	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6714769	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6733392	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67391943	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6744793	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6754942	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6761345	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs68009860	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7600893	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7601311	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs925806	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184024400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
3	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:183990600-184028600	Weak transcription	Colonic Mucosa	Colon
5	chr2:183990800-184025800	Weak transcription	Fetal Kidney	kidney
6	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:183991000-184028600	Weak transcription	Right Ventricle	heart
8	chr2:183991000-184030400	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
13	chr2:183991400-184034000	Weak transcription	NHLF	lung
14	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
15	chr2:183991600-184029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
17	chr2:183995200-184026000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:183996000-184026400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:183996400-184025800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:184005000-184025200	Weak transcription	Left Ventricle	heart
21	chr2:184009000-184023000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:184009000-184023600	Weak transcription	HMEC	breast
23	chr2:184009000-184028600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:184009000-184043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:184009200-184024200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:184009200-184024200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:184009200-184025000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:184009200-184025200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:184009200-184025600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:184009200-184025800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:184009200-184028400	Weak transcription	Brain Anterior Caudate	brain
32	chr2:184009200-184034000	Weak transcription	Esophagus	oesophagus
33	chr2:184009200-184043600	Weak transcription	Psoas Muscle	Psoas
34	chr2:184009200-184048400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:184009400-184019600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:184009400-184024200	Weak transcription	NH-A	brain
37	chr2:184009400-184047200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:184012800-184022200	Strong transcription	A549	lung
39	chr2:184013400-184019800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:184013800-184025800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:184014200-184031400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:184014400-184019600	Strong transcription	HepG2	liver
43	chr2:184014400-184025200	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:184014600-184024400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:184014600-184030800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:184015000-184022800	Weak transcription	Right Atrium	heart
47	chr2:184015000-184028800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:184015000-184029000	Weak transcription	HSMMtube	muscle
49	chr2:184015000-184062000	Weak transcription	Small Intestine	intestine
50	chr2:184015200-184028000	Weak transcription	Fetal Heart	heart

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