Variant report

Variant	rs7920141
Chromosome Location	chr10:5146923-5146924
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	chr10:5135730..5138906-chr10:5144094..5147673,3	K562	blood:
2	chr10:5135730..5137727-chr10:5144800..5147673,2	K562	blood:

Variant related genes	Relation type
ENSG00000239142	Chromatin interaction
ENSG00000196139	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10508294	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10904415	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10904416	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10904436	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10904439	0.82[EUR][1000 genomes]
rs11252928	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11252931	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11252934	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11252935	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11252936	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11252937	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11252941	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11252955	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11252968	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11252972	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11252978	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11252992	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11253010	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11253012	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11253013	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11253015	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11253016	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11253018	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11253019	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11253020	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11253021	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11253022	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11253036	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11253039	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11492955	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11517338	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11517343	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11517344	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12354416	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12354530	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12357445	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12357449	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12359896	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12360480	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12769156	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1334466	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1334467	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1334471	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1334738	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1334739	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17134288	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17305952	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1889458	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1937843	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1937909	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2020172	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2210679	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2895061	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2895064	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34914591	0.82[AMR][1000 genomes]
rs35219485	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3763676	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4448597	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4880711	0.81[EUR][1000 genomes]
rs4880714	0.82[EUR][1000 genomes]
rs4880715	0.82[EUR][1000 genomes]
rs4881406	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4881407	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6601901	0.85[EUR][1000 genomes]
rs6601907	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6601918	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7069331	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7090349	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7090531	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7097295	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7097646	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7477623	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7478099	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7741	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7920454	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9730736	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9794203	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv1036566	chr10:5037926-5261426	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv549883	chr10:5037926-5275762	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv1047484	chr10:5076258-5261482	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv1036291	chr10:5076258-5456234	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv1042487	chr10:5090313-5196900	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv540463	chr10:5090313-5196900	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv540464	chr10:5108345-5196815	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv540465	chr10:5108345-5261482	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv540466	chr10:5114577-5196815	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv540467	chr10:5114577-5225365	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv540468	chr10:5114577-5261482	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv540469	chr10:5120774-5225365	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv540470	chr10:5120774-5261482	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
27	nsv540471	chr10:5133561-5261482	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
28	nsv540472	chr10:5133561-5284334	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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
29	nsv466714	chr10:5142855-5175450	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	nsv549885	chr10:5142855-5175450	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5136600-5147400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:5137200-5149800	Weak transcription	Small Intestine	intestine
3	chr10:5137400-5149400	Weak transcription	HSMM	muscle
4	chr10:5137400-5149600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:5137400-5149600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:5137400-5149800	Weak transcription	Pancreas	Pancrea
7	chr10:5137400-5151600	Weak transcription	Brain Angular Gyrus	brain
8	chr10:5137400-5151800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:5137400-5152000	Weak transcription	Right Ventricle	heart
10	chr10:5137600-5147800	Weak transcription	HMEC	breast
11	chr10:5137800-5150800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr10:5138000-5147200	Transcr. at gene 5' and 3'	A549	lung
13	chr10:5138200-5148400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr10:5138200-5151000	Weak transcription	Osteobl	bone
15	chr10:5138200-5151800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr10:5138600-5149200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:5138600-5149800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr10:5138600-5150200	Weak transcription	Brain Hippocampus Middle	brain
19	chr10:5138600-5151800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr10:5138800-5147800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr10:5138800-5151800	Weak transcription	Brain Anterior Caudate	brain
22	chr10:5138800-5151800	Weak transcription	Colonic Mucosa	Colon
23	chr10:5138800-5152000	Weak transcription	Psoas Muscle	Psoas
24	chr10:5139000-5151600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr10:5139600-5147000	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:5140000-5148200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:5140200-5148200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:5140200-5150400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr10:5140800-5148600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:5140800-5149800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:5141800-5147400	Strong transcription	Liver	Liver
32	chr10:5141800-5147800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr10:5142000-5147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:5142200-5148000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:5142600-5147800	Weak transcription	Left Ventricle	heart
36	chr10:5144400-5148000	Weak transcription	NHDF-Ad	bronchial
37	chr10:5145200-5151400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr10:5145400-5147800	Weak transcription	Lung	lung
39	chr10:5145600-5148400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:5145600-5148600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:5146000-5147600	Weak transcription	HepG2	liver
42	chr10:5146000-5147800	Weak transcription	Aorta	Aorta
43	chr10:5146000-5147800	Weak transcription	Ovary	ovary
44	chr10:5146000-5147800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr10:5146000-5147800	Weak transcription	Stomach Mucosa	stomach
46	chr10:5146000-5148000	Weak transcription	Gastric	stomach
47	chr10:5146000-5148000	Weak transcription	HSMMtube	muscle
48	chr10:5146000-5149600	Weak transcription	Thymus	Thymus
49	chr10:5146000-5150000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:5146000-5150400	Weak transcription	Fetal Intestine Small	intestine

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