Variant report

Variant	rs2793240
Chromosome Location	chr6:5003180-5003181
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4776139..4778956-chr6:5002447..5004557,2	K562	blood:
2	chr6:5002773..5004480-chr6:5029318..5032794,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272142	Chromatin interaction
ENSG00000153046	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11758411	0.81[EUR][1000 genomes]
rs11759046	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1417656	0.82[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1749154	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1749161	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1749165	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1771865	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771866	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771867	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771871	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886567	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2326574	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764102	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764104	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764105	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764106	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764108	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2764109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764112	0.85[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764114	0.85[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764115	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764116	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764120	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764121	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764123	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764124	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764125	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764126	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764127	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764129	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764130	1.00[ASN][1000 genomes]
rs2764132	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2764134	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764135	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764137	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764138	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764139	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764141	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764142	1.00[ASN][1000 genomes]
rs2764143	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764145	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2764149	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764151	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764152	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764166	1.00[ASN][1000 genomes]
rs2764169	1.00[ASN][1000 genomes]
rs2764185	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764186	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2764191	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764192	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793241	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793242	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793245	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793247	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793249	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793250	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2793251	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985675	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994694	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34471690	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4960056	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018030	0.90[AMR][1000 genomes]
rs62385141	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905084	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912320	1.00[ASN][1000 genomes]
rs795809	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795810	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795811	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs808734	1.00[MEX][hapmap]
rs912709	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912711	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947153	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9502260	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1033905	chr6:4955826-5080904	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4985600-5003200	Weak transcription	Hela-S3	cervix
2	chr6:4985800-5003600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:4987600-5003600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:4988200-5003600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:4988800-5003600	Weak transcription	HMEC	breast
6	chr6:4989200-5003600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:4990000-5003600	Weak transcription	Fetal Lung	lung
8	chr6:4990400-5003600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:4990400-5003600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:4990800-5003600	Weak transcription	Right Ventricle	heart
11	chr6:4992200-5003400	Weak transcription	NH-A	brain
12	chr6:4992400-5003600	Weak transcription	Small Intestine	intestine
13	chr6:4992800-5003600	Weak transcription	Brain Germinal Matrix	brain
14	chr6:4993000-5003600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:4993400-5003400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:4993600-5003600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:4993600-5003600	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:4994400-5003600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:4994600-5003600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:4995200-5003600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:4996400-5003600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:4997000-5003600	Weak transcription	Fetal Kidney	kidney
23	chr6:4997200-5003200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:4997200-5003600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:4997600-5003400	Weak transcription	Colonic Mucosa	Colon
26	chr6:4997600-5003600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:4997800-5003600	Weak transcription	Ovary	ovary
28	chr6:4998000-5003600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:4998000-5003600	Weak transcription	Thymus	Thymus
30	chr6:4998200-5003200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr6:4998200-5003600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr6:4998200-5003600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:4998400-5003200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr6:4998400-5003600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:4998400-5003600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:4998400-5003600	Weak transcription	NHLF	lung
37	chr6:4998800-5003400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr6:5000000-5003600	Weak transcription	Primary B cells from cord blood	blood
39	chr6:5000200-5003200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr6:5000200-5003600	Weak transcription	Stomach Mucosa	stomach
41	chr6:5000600-5004000	Weak transcription	Fetal Brain Male	brain
42	chr6:5001200-5003400	Genic enhancers	HepG2	liver
43	chr6:5001400-5003600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:5001600-5003200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:5001600-5003600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:5001800-5003200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:5001800-5003600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:5002000-5003200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr6:5002000-5003400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:5002000-5003600	Weak transcription	H1 Cell Line	embryonic stem cell

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