Variant report

Variant	rs60877431
Chromosome Location	chr3:50684999-50685000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50684608..50687083-chr3:50711233..50712779,2	K562	blood:
2	chr3:50653198..50654878-chr3:50683228..50685763,2	MCF-7	breast:
3	chr3:50666617..50668996-chr3:50683864..50686191,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000088538	Chromatin interaction
ENSG00000114738	Chromatin interaction
ENSG00000272543	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1077215	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12486143	0.85[AMR][1000 genomes]
rs12486717	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12487817	0.83[AMR][1000 genomes]
rs12489607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12491440	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12491812	0.88[AMR][1000 genomes]
rs12492093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12492367	0.82[AFR][1000 genomes]
rs12492540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12492982	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12494094	0.90[AMR][1000 genomes]
rs12494326	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12494776	0.80[AFR][1000 genomes]
rs12495399	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17050991	0.88[AMR][1000 genomes]
rs17050995	0.85[AMR][1000 genomes]
rs17051000	0.90[AMR][1000 genomes]
rs17051043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17051045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17051403	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1872184	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1894459	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2035484	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2076927	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2170840	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2227292	0.86[ASN][1000 genomes]
rs2227293	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2239750	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2239751	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2239752	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2239753	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2285090	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3749265	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3752449	0.86[ASN][1000 genomes]
rs3792323	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4476497	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4688696	0.80[AFR][1000 genomes]
rs4688705	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4688707	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4688709	0.86[ASN][1000 genomes]
rs4688710	0.90[AMR][1000 genomes]
rs4688713	0.85[AMR][1000 genomes]
rs4688716	0.81[AMR][1000 genomes]
rs56170012	0.83[AMR][1000 genomes]
rs56856095	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57910827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58427389	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58529408	0.89[ASN][1000 genomes]
rs59036236	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60552073	0.90[AMR][1000 genomes]
rs60552386	0.82[AFR][1000 genomes]
rs61193866	0.88[AMR][1000 genomes]
rs61316441	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61574029	0.87[AMR][1000 genomes]
rs61613532	0.87[AMR][1000 genomes]
rs616689	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6446208	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs650655	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6766638	0.83[AMR][1000 genomes]
rs6771348	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6783922	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6794155	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs728902	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72938758	0.87[AMR][1000 genomes]
rs72942530	0.82[AFR][1000 genomes]
rs72942785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72942794	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72944726	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72944730	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73835531	0.85[AMR][1000 genomes]
rs743753	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs745356	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs762889	0.86[ASN][1000 genomes]
rs808148	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs876103	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs876104	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs876105	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9868889	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9879397	0.90[AMR][1000 genomes];0.98[ASN][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	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50661600-50688200	Weak transcription	Small Intestine	intestine
2	chr3:50663400-50690000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:50665400-50686800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:50665600-50686200	Weak transcription	Stomach Mucosa	stomach
5	chr3:50670200-50689000	Weak transcription	K562	blood
6	chr3:50670400-50699800	Weak transcription	Hela-S3	cervix
7	chr3:50672400-50688000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr3:50674200-50687200	Strong transcription	Dnd41	blood
9	chr3:50675400-50687400	Strong transcription	Thymus	Thymus
10	chr3:50675800-50688000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr3:50676000-50686000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:50676000-50687600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr3:50676000-50688200	Strong transcription	Primary T cells from cord blood	blood
14	chr3:50676000-50689200	Strong transcription	Fetal Intestine Small	intestine
15	chr3:50676200-50686600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:50676200-50686600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr3:50676200-50686800	Strong transcription	Lung	lung
18	chr3:50676400-50686000	Strong transcription	Fetal Stomach	stomach
19	chr3:50676400-50686800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:50676400-50687000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr3:50676400-50687600	Strong transcription	Fetal Intestine Large	intestine
22	chr3:50676400-50688000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:50676400-50688000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:50676400-50688800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:50676600-50687600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr3:50676600-50688200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:50676800-50686800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr3:50676800-50687000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:50676800-50687200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:50676800-50688000	Strong transcription	Esophagus	oesophagus
31	chr3:50677000-50686400	Strong transcription	Fetal Thymus	thymus
32	chr3:50677000-50686800	Strong transcription	Liver	Liver
33	chr3:50677200-50685200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr3:50677200-50686200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:50677400-50686000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:50677400-50686200	Weak transcription	HSMMtube	muscle
37	chr3:50677400-50687400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:50677400-50687400	Strong transcription	HMEC	breast
39	chr3:50677400-50687600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr3:50677400-50687600	Strong transcription	NHEK	skin
41	chr3:50677400-50692200	Weak transcription	NHDF-Ad	bronchial
42	chr3:50677600-50686600	Strong transcription	Placenta	Placenta
43	chr3:50677600-50686800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:50677600-50686800	Strong transcription	Gastric	stomach
45	chr3:50677800-50685000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:50677800-50686000	Strong transcription	Colonic Mucosa	Colon
47	chr3:50677800-50686000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:50677800-50686600	Strong transcription	Adipose Nuclei	Adipose
49	chr3:50677800-50686800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:50678000-50685400	Strong transcription	Rectal Mucosa Donor 31	rectum

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