Variant report

Variant	rs73413815
Chromosome Location	chr6:34631621-34631622
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34631409..34633756-chr6:34633956..34636158,2	K562	blood:
2	chr6:34599582..34601772-chr6:34629752..34632322,2	K562	blood:
3	chr6:34627370..34633298-chr6:34660858..34665853,8	K562	blood:
4	chr6:34629447..34632251-chr6:34643807..34649063,4	K562	blood:
5	chr6:34577643..34579830-chr6:34629436..34632092,2	K562	blood:
6	chr6:34624273..34628240-chr6:34629354..34635168,7	K562	blood:
7	chr6:34631390..34634014-chr6:34855463..34858045,2	K562	blood:
8	chr6:34618501..34621326-chr6:34629945..34632259,2	K562	blood:
9	chr6:34627744..34634016-chr6:34660523..34667745,13	K562	blood:

No data

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

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12111029	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57106758	1.00[ASN][1000 genomes]
rs58971485	1.00[ASN][1000 genomes]
rs59183825	1.00[ASN][1000 genomes]
rs59191826	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59240548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60220209	1.00[ASN][1000 genomes]
rs60345670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61510762	1.00[ASN][1000 genomes]
rs6913723	1.00[ASN][1000 genomes]
rs6919218	1.00[ASN][1000 genomes]
rs6924259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6931073	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931985	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938501	1.00[ASN][1000 genomes]
rs6939293	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939783	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409960	1.00[ASN][1000 genomes]
rs73409969	1.00[ASN][1000 genomes]
rs73409978	1.00[ASN][1000 genomes]
rs73409982	1.00[ASN][1000 genomes]
rs73409987	1.00[ASN][1000 genomes]
rs73409995	1.00[ASN][1000 genomes]
rs73409996	1.00[ASN][1000 genomes]
rs73410000	1.00[ASN][1000 genomes]
rs73411915	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411935	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411944	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411957	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411971	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411982	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413804	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413811	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413845	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413885	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73746653	1.00[ASN][1000 genomes]
rs7742598	1.00[ASN][1000 genomes]
rs7759296	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7762752	1.00[ASN][1000 genomes]
rs7766657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34625000-34631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:34625800-34631800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:34625800-34631800	Weak transcription	Fetal Lung	lung
4	chr6:34625800-34635400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:34625800-34640600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:34626000-34631800	Weak transcription	Brain Anterior Caudate	brain
7	chr6:34626000-34632000	Weak transcription	Fetal Thymus	thymus
8	chr6:34626000-34632600	Weak transcription	Aorta	Aorta
9	chr6:34626000-34634400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:34626000-34647600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:34626000-34662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:34626800-34632000	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:34626800-34641600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:34626800-34662400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:34627000-34631800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr6:34627000-34631800	Weak transcription	Small Intestine	intestine
17	chr6:34627000-34631800	Weak transcription	HSMM	muscle
18	chr6:34627000-34632000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr6:34627000-34632000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:34627000-34632000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:34627000-34632000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:34627000-34632000	Weak transcription	Left Ventricle	heart
23	chr6:34627000-34632000	Weak transcription	Lung	lung
24	chr6:34627000-34632200	Weak transcription	Primary T cells from cord blood	blood
25	chr6:34627000-34632200	Weak transcription	Ovary	ovary
26	chr6:34627000-34632600	Weak transcription	Pancreas	Pancrea
27	chr6:34627000-34632600	Weak transcription	Spleen	Spleen
28	chr6:34627000-34639000	Weak transcription	Esophagus	oesophagus
29	chr6:34627200-34631800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr6:34627200-34632000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:34627200-34632200	Weak transcription	Right Ventricle	heart
32	chr6:34627200-34632200	Weak transcription	Stomach Mucosa	stomach
33	chr6:34627200-34632400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:34627200-34632400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:34627200-34633800	Weak transcription	Fetal Intestine Large	intestine
36	chr6:34627200-34634800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:34627200-34639000	Weak transcription	Psoas Muscle	Psoas
38	chr6:34628000-34632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:34628000-34641400	Weak transcription	Gastric	stomach
40	chr6:34628200-34632000	Weak transcription	Fetal Stomach	stomach
41	chr6:34629200-34632200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr6:34629600-34632200	Weak transcription	Fetal Heart	heart
43	chr6:34630000-34637200	Enhancers	Liver	Liver
44	chr6:34630200-34632000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:34630200-34633600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:34630200-34633800	Flanking Active TSS	GM12878-XiMat	blood
47	chr6:34630400-34632400	Enhancers	A549	lung
48	chr6:34630400-34633400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:34630600-34631800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr6:34630600-34631800	Enhancers	Placenta	Placenta

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