Variant report

Variant	rs7759296
Chromosome Location	chr6:34633033-34633034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34631409..34633756-chr6:34633956..34636158,2	K562	blood:
2	chr6:34627370..34633298-chr6:34660858..34665853,8	K562	blood:
3	chr6:34624273..34628240-chr6:34629354..34635168,7	K562	blood:
4	chr6:34632043..34635334-chr6:34637313..34641742,9	K562	blood:
5	chr6:34631390..34634014-chr6:34855463..34858045,2	K562	blood:
6	chr6:34631788..34635438-chr6:34723513..34725198,3	K562	blood:
7	chr6:34627744..34634016-chr6:34660523..34667745,13	K562	blood:

Variant related genes	Relation type
ENSG00000064999	Chromatin interaction
ENSG00000238484	Chromatin interaction
ENSG00000272288	Chromatin interaction
ENSG00000124562	Chromatin interaction
ENSG00000064995	Chromatin interaction
ENSG00000196821	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12111029	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59191826	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59240548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60345670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6924259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6927376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6931073	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6931985	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6936924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6939293	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6939783	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411915	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411935	1.00[EUR][1000 genomes]
rs73411944	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411957	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411971	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411982	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413804	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413815	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413824	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413828	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413845	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413885	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7766657	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9942450	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv885794	chr6:34561585-34673149	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34625800-34635400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:34625800-34640600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:34626000-34634400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:34626000-34647600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:34626000-34662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:34626800-34641600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:34626800-34662400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:34627000-34639000	Weak transcription	Esophagus	oesophagus
9	chr6:34627200-34633800	Weak transcription	Fetal Intestine Large	intestine
10	chr6:34627200-34634800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:34627200-34639000	Weak transcription	Psoas Muscle	Psoas
12	chr6:34628000-34641400	Weak transcription	Gastric	stomach
13	chr6:34630000-34637200	Enhancers	Liver	Liver
14	chr6:34630200-34633600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:34630200-34633800	Flanking Active TSS	GM12878-XiMat	blood
16	chr6:34630400-34633400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:34630600-34633600	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:34630600-34636200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:34630800-34633600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:34630800-34634800	Enhancers	Primary hematopoietic stem cells	blood
21	chr6:34631000-34634600	Enhancers	HepG2	liver
22	chr6:34631400-34633800	Enhancers	Adipose Nuclei	Adipose
23	chr6:34631400-34634200	Enhancers	Hela-S3	cervix
24	chr6:34631600-34633200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:34631600-34634000	Enhancers	Dnd41	blood
26	chr6:34631600-34634000	Enhancers	NHLF	lung
27	chr6:34631600-34634200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:34631600-34634800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:34631600-34635400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:34631600-34639400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr6:34631800-34633600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr6:34631800-34633600	Enhancers	Small Intestine	intestine
33	chr6:34631800-34638800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr6:34632000-34633200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr6:34632000-34633200	Enhancers	Brain Hippocampus Middle	brain
36	chr6:34632000-34633400	Enhancers	Left Ventricle	heart
37	chr6:34632000-34633600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr6:34632000-34634800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr6:34632000-34639800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:34632200-34633400	Enhancers	Ovary	ovary
41	chr6:34632200-34633600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:34632200-34634000	Enhancers	Primary T cells from cord blood	blood
43	chr6:34632200-34634000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr6:34632200-34634200	Weak transcription	HSMMtube	muscle
45	chr6:34632200-34634400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr6:34632400-34634400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr6:34632400-34638800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:34632600-34633400	Enhancers	Lung	lung
49	chr6:34632600-34633400	Enhancers	Spleen	Spleen
50	chr6:34632600-34633400	Enhancers	Osteobl	bone

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