Variant report

Variant	rs2764185
Chromosome Location	chr6:5010781-5010782
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	chr6:5002835..5004507-chr6:5010245..5011788,2	MCF-7	breast:
2	chr6:5002735..5006966-chr6:5008067..5011558,5	K562	blood:

Variant related genes	Relation type
ENSG00000124787	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11759046	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1417656	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1749154	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1749161	1.00[ASN][1000 genomes]
rs1771865	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1771866	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1771867	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1771871	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1886567	1.00[ASN][1000 genomes]
rs2326574	1.00[ASN][1000 genomes]
rs2764102	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764103	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764104	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764105	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764106	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764107	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764109	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764112	1.00[ASN][1000 genomes]
rs2764114	1.00[ASN][1000 genomes]
rs2764115	1.00[ASN][1000 genomes]
rs2764116	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764120	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764121	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764123	1.00[ASN][1000 genomes]
rs2764124	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764125	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764126	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764127	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764129	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764130	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764134	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764135	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764137	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764138	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764139	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764141	1.00[ASN][1000 genomes]
rs2764142	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764143	1.00[ASN][1000 genomes]
rs2764145	1.00[ASN][1000 genomes]
rs2764148	0.80[AMR][1000 genomes]
rs2764149	1.00[ASN][1000 genomes]
rs2764151	1.00[ASN][1000 genomes]
rs2764152	1.00[ASN][1000 genomes]
rs2764166	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764169	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764191	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764192	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2793240	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2793241	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2793242	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2793245	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2793247	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2793249	1.00[ASN][1000 genomes]
rs2793250	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793251	1.00[ASN][1000 genomes]
rs2985675	1.00[ASN][1000 genomes]
rs2985676	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2994694	1.00[ASN][1000 genomes]
rs34471690	1.00[ASN][1000 genomes]
rs4960056	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62385141	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6905084	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6912320	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795809	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs795810	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs813840	0.81[EUR][1000 genomes]
rs912709	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs912710	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs912711	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs947153	1.00[ASN][1000 genomes]
rs9502260	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv1017380	chr6:5007870-5152551	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5004600-5014000	Weak transcription	Lung	lung
2	chr6:5004800-5012200	Weak transcription	Ovary	ovary
3	chr6:5004800-5012800	Weak transcription	Aorta	Aorta
4	chr6:5004800-5013000	Weak transcription	Esophagus	oesophagus
5	chr6:5005200-5012400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:5005200-5013000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:5005200-5013000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:5005200-5013200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:5005200-5014200	Weak transcription	Primary T cells from cord blood	blood
10	chr6:5005200-5017000	Weak transcription	Primary B cells from cord blood	blood
11	chr6:5005200-5025800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:5005400-5012400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:5005400-5012800	Weak transcription	HepG2	liver
14	chr6:5006800-5011400	Weak transcription	Gastric	stomach

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