Variant report

Variant	rs1862191
Chromosome Location	chr5:52328400-52328401
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	chr5:52319764..52321344-chr5:52327151..52329228,2	K562	blood:
2	chr5:52313064..52315275-chr5:52327348..52329688,2	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1062535	0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.90[ASN][1000 genomes]
rs10940290	0.82[EUR][1000 genomes]
rs1126643	0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11959632	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12515364	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12517446	0.83[ASN][1000 genomes]
rs12518279	0.88[ASN][1000 genomes]
rs12521915	0.84[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12652168	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12657429	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12657501	0.89[AFR][1000 genomes]
rs12657972	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1316250	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1363192	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1421929	0.89[ASN][1000 genomes]
rs1421930	0.89[ASN][1000 genomes]
rs1421931	0.89[ASN][1000 genomes]
rs1421932	0.89[ASN][1000 genomes]
rs1421937	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1445943	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16880669	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1833558	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1991013	0.86[ASN][1000 genomes]
rs2075615	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2075616	0.87[ASN][1000 genomes]
rs2075617	0.87[ASN][1000 genomes]
rs2287871	0.88[ASN][1000 genomes]
rs2303122	0.84[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2303123	0.81[ASN][1000 genomes]
rs2303127	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2897458	0.90[ASN][1000 genomes]
rs2910964	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2910965	0.89[ASN][1000 genomes]
rs2910971	0.89[ASN][1000 genomes]
rs2974976	0.89[ASN][1000 genomes]
rs2974978	0.89[ASN][1000 genomes]
rs2974987	0.89[ASN][1000 genomes]
rs3212424	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs3212438	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3212439	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3212441	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3212450	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3212453	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3212455	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3212457	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3212458	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3212461	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3212464	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3212467	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3212472	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3212478	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3212480	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3212481	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3212486	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3212508	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3212509	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3212522	0.89[ASN][1000 genomes]
rs3212527	0.89[ASN][1000 genomes]
rs3212533	0.89[ASN][1000 genomes]
rs3212591	0.88[ASN][1000 genomes]
rs3212600	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3212601	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3212619	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3212640	0.83[ASN][1000 genomes]
rs3756537	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3776787	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3797495	0.94[CEU][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3797496	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3797498	0.94[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3822558	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3926397	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62357232	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62357233	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs67719154	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6880055	0.91[YRI][hapmap]
rs6898333	0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7725246	0.94[CHB][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs984966	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs989073	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs990602	0.83[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	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv880425	chr5:52291279-52345868	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv881652	chr5:52323568-52385312	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52307000-52333800	Weak transcription	Gastric	stomach
2	chr5:52314200-52328600	Weak transcription	Lung	lung
3	chr5:52314200-52348000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:52317600-52333600	Weak transcription	Colonic Mucosa	Colon
5	chr5:52318400-52331800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:52322200-52333200	Weak transcription	Fetal Stomach	stomach
7	chr5:52323200-52329000	Enhancers	NHLF	lung
8	chr5:52323600-52332600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:52324200-52334200	Weak transcription	Spleen	Spleen
10	chr5:52324400-52328800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:52324400-52356400	Weak transcription	Brain Anterior Caudate	brain
12	chr5:52324600-52332400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:52325400-52329200	Enhancers	HUVEC	blood vessel
14	chr5:52326000-52328400	Enhancers	Duodenum Mucosa	Duodenum
15	chr5:52326200-52328800	Enhancers	NH-A	brain
16	chr5:52326400-52328800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:52326400-52328800	Enhancers	HepG2	liver
18	chr5:52326400-52329200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:52326400-52329400	Enhancers	Dnd41	blood
20	chr5:52326400-52329400	Enhancers	Hela-S3	cervix
21	chr5:52326600-52328400	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:52326600-52329200	Enhancers	NHDF-Ad	bronchial
23	chr5:52326800-52328400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:52326800-52328400	Enhancers	Brain Substantia Nigra	brain
25	chr5:52326800-52328400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr5:52326800-52328800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:52326800-52328800	Enhancers	Fetal Lung	lung
28	chr5:52326800-52329000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:52326800-52329400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr5:52327000-52328400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:52327000-52328600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:52327000-52328800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr5:52327000-52328800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:52327000-52329000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:52327000-52329200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr5:52327200-52328400	Enhancers	Brain Hippocampus Middle	brain
37	chr5:52327200-52328800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:52327200-52328800	Enhancers	Primary T cells from cord blood	blood
39	chr5:52327200-52329200	Enhancers	HMEC	breast
40	chr5:52327400-52328800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:52327400-52328800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr5:52327400-52328800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr5:52327400-52329200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr5:52327600-52328400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:52327600-52328800	Enhancers	Fetal Intestine Large	intestine
46	chr5:52327600-52329000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:52327600-52333000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:52327800-52328400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:52327800-52328400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:52327800-52328600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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