Variant report

Variant	rs57817568
Chromosome Location	chr5:37630235-37630236
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	chr5:37628723..37630359-chr5:37632589..37634816,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10062316	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1013398	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10473055	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10805627	0.93[EUR][1000 genomes]
rs10941344	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10941345	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10941347	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10941348	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10941349	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941350	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941351	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941352	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10941353	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941356	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1126290	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11740897	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11741504	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11742904	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11747900	0.85[AMR][1000 genomes]
rs11748123	0.90[ASN][1000 genomes]
rs11750256	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11949124	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11950295	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11954727	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11957813	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12152831	0.91[ASN][1000 genomes]
rs12187311	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12188106	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12332088	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12516955	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12519307	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12652658	0.90[ASN][1000 genomes]
rs12653047	0.91[ASN][1000 genomes]
rs12654893	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12655908	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12658877	0.84[ASN][1000 genomes]
rs1356433	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1400851	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1400853	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1517785	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1517786	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1517788	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1533521	0.88[ASN][1000 genomes]
rs1554278	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1589116	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1589119	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16903691	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1812818	0.90[ASN][1000 genomes]
rs2088077	0.90[ASN][1000 genomes]
rs2101786	0.91[ASN][1000 genomes]
rs2176478	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2176479	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4357062	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4541680	0.94[EUR][1000 genomes]
rs4869438	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4869439	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4869440	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869527	0.88[ASN][1000 genomes]
rs4869530	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4869532	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869533	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869535	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869536	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869537	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869538	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs498254	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55732996	0.81[EUR][1000 genomes]
rs55742744	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55794983	0.90[ASN][1000 genomes]
rs55960353	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56044522	0.91[ASN][1000 genomes]
rs56100322	0.81[EUR][1000 genomes]
rs56114410	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56145766	0.90[ASN][1000 genomes]
rs56234447	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56288111	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56412589	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57015453	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58969082	0.83[ASN][1000 genomes]
rs59696230	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60589722	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61435914	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62359033	0.90[ASN][1000 genomes]
rs62359036	0.91[ASN][1000 genomes]
rs62359042	0.91[ASN][1000 genomes]
rs62359058	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62360876	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451326	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6451329	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6451330	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6451331	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6451333	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6863936	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6864924	0.87[EUR][1000 genomes]
rs6865231	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6868428	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6871844	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6872681	0.88[ASN][1000 genomes]
rs6874891	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6876171	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6879890	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6885057	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6885329	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6887215	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6887613	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6889616	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7380215	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7702644	0.93[EUR][1000 genomes]
rs7704853	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7705015	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7705089	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7713017	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7715482	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718557	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7727807	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292656	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9292662	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1034094	chr5:37406859-37666704	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv537731	chr5:37406859-37666704	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv880890	chr5:37443079-37681646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37602000-37630800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:37604800-37630400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:37606400-37637800	Weak transcription	Esophagus	oesophagus
4	chr5:37613800-37637600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:37616200-37639400	Weak transcription	Fetal Heart	heart
6	chr5:37619400-37632000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:37619800-37630800	Weak transcription	Gastric	stomach
8	chr5:37625000-37636800	Weak transcription	Colonic Mucosa	Colon
9	chr5:37626200-37630600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:37628000-37630400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:37628400-37630400	Weak transcription	Psoas Muscle	Psoas
12	chr5:37628400-37631000	Weak transcription	Ovary	ovary
13	chr5:37629000-37637600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:37629200-37632400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:37629200-37635600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:37629400-37637800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:37629400-37639000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:37629600-37630400	Weak transcription	Osteobl	bone
19	chr5:37629600-37633200	Strong transcription	Primary B cells from cord blood	blood
20	chr5:37629600-37633400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:37629600-37633600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:37629600-37638800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:37629600-37640800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:37629600-37640800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:37629600-37641600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:37629800-37630600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr5:37630000-37631200	Strong transcription	Primary T cells from cord blood	blood
28	chr5:37630000-37637600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:37630200-37630400	ZNF genes & repeats	Spleen	Spleen
30	chr5:37630200-37630600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:37630200-37630600	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr5:37630200-37630600	ZNF genes & repeats	Fetal Stomach	stomach
33	chr5:37630200-37630600	Genic enhancers	Pancreas	Pancrea
34	chr5:37630200-37630800	Enhancers	Right Ventricle	heart
35	chr5:37630200-37631000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:37630200-37631200	Enhancers	Left Ventricle	heart
37	chr5:37630200-37631200	ZNF genes & repeats	Lung	lung
38	chr5:37630200-37631400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:37630200-37636800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr5:37630200-37645200	Weak transcription	Primary hematopoietic stem cells	blood

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