Variant report

Variant	rs56987113
Chromosome Location	chr6:34632391-34632392
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
ENSG00000196821	Chromatin interaction
ENSG00000272288	Chromatin interaction
ENSG00000064995	Chromatin interaction
ENSG00000064999	Chromatin interaction
ENSG00000238484	Chromatin interaction
ENSG00000124562	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1125342	0.88[EUR][1000 genomes]
rs11970421	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16894102	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16894945	0.84[EUR][1000 genomes]
rs16894995	0.84[EUR][1000 genomes]
rs1964810	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2064253	0.90[ASN][1000 genomes]
rs2235571	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2235572	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2236392	0.92[EUR][1000 genomes]
rs2252551	0.97[ASN][1000 genomes]
rs2294536	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2492862	0.94[ASN][1000 genomes]
rs2744948	0.86[ASN][1000 genomes]
rs2744952	0.97[ASN][1000 genomes]
rs2744953	0.85[ASN][1000 genomes]
rs2744962	0.88[ASN][1000 genomes]
rs2744963	0.88[ASN][1000 genomes]
rs2744966	0.89[ASN][1000 genomes]
rs2744967	0.89[ASN][1000 genomes]
rs2744968	0.88[ASN][1000 genomes]
rs2744970	0.86[ASN][1000 genomes]
rs2814989	0.93[ASN][1000 genomes]
rs2814990	0.97[ASN][1000 genomes]
rs2814997	0.93[ASN][1000 genomes]
rs2814998	0.97[ASN][1000 genomes]
rs2815000	0.95[ASN][1000 genomes]
rs2815003	0.97[ASN][1000 genomes]
rs3777751	0.88[EUR][1000 genomes]
rs3798349	0.88[EUR][1000 genomes]
rs3798351	0.92[EUR][1000 genomes]
rs3800455	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3800456	0.86[ASN][1000 genomes]
rs41438444	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4615374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4618513	0.94[ASN][1000 genomes]
rs56825685	0.84[EUR][1000 genomes]
rs56842618	0.92[EUR][1000 genomes]
rs57338415	0.84[EUR][1000 genomes]
rs57637041	0.84[EUR][1000 genomes]
rs57645599	0.88[EUR][1000 genomes]
rs57916801	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57994417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58643640	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58654146	0.88[EUR][1000 genomes]
rs58817410	0.88[EUR][1000 genomes]
rs58833137	0.82[EUR][1000 genomes]
rs59014029	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59851773	0.88[EUR][1000 genomes]
rs59884600	0.92[EUR][1000 genomes]
rs59952325	0.82[EUR][1000 genomes]
rs60410089	0.92[EUR][1000 genomes]
rs60439875	0.86[EUR][1000 genomes]
rs60754257	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73413893	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73415706	0.92[EUR][1000 genomes]
rs73415742	0.92[EUR][1000 genomes]
rs73415758	0.96[EUR][1000 genomes]
rs73415760	0.96[EUR][1000 genomes]
rs73415779	0.96[EUR][1000 genomes]
rs73415781	0.96[EUR][1000 genomes]
rs73417752	0.88[EUR][1000 genomes]
rs73417786	0.88[EUR][1000 genomes]
rs73419615	0.88[EUR][1000 genomes]
rs73419643	0.86[EUR][1000 genomes]
rs73419650	0.86[EUR][1000 genomes]
rs73419656	0.84[EUR][1000 genomes]
rs73419658	0.84[EUR][1000 genomes]
rs73419660	0.84[EUR][1000 genomes]
rs73419689	0.87[EUR][1000 genomes]
rs7752237	0.84[ASN][1000 genomes]
rs7772600	0.84[ASN][1000 genomes]
rs9296126	0.86[ASN][1000 genomes]
rs9368829	0.83[ASN][1000 genomes]
rs9380451	0.84[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:105 , 50 per page) page: 1 2 3

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	chr6:34626000-34632600	Weak transcription	Aorta	Aorta
4	chr6:34626000-34634400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:34626000-34647600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:34626000-34662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:34626800-34641600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:34626800-34662400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:34627000-34632600	Weak transcription	Pancreas	Pancrea
10	chr6:34627000-34632600	Weak transcription	Spleen	Spleen
11	chr6:34627000-34639000	Weak transcription	Esophagus	oesophagus
12	chr6:34627200-34632400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:34627200-34632400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:34627200-34633800	Weak transcription	Fetal Intestine Large	intestine
15	chr6:34627200-34634800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:34627200-34639000	Weak transcription	Psoas Muscle	Psoas
17	chr6:34628000-34641400	Weak transcription	Gastric	stomach
18	chr6:34630000-34637200	Enhancers	Liver	Liver
19	chr6:34630200-34633600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:34630200-34633800	Flanking Active TSS	GM12878-XiMat	blood
21	chr6:34630400-34632400	Enhancers	A549	lung
22	chr6:34630400-34633400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:34630600-34633600	Enhancers	Primary B cells from peripheral blood	blood
24	chr6:34630600-34636200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:34630800-34633000	Enhancers	Right Atrium	heart
26	chr6:34630800-34633600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:34630800-34634800	Enhancers	Primary hematopoietic stem cells	blood
28	chr6:34631000-34632800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:34631000-34634600	Enhancers	HepG2	liver
30	chr6:34631200-34633000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr6:34631400-34632600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:34631400-34632800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:34631400-34632800	Enhancers	Primary B cells from cord blood	blood
34	chr6:34631400-34632800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:34631400-34633000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:34631400-34633800	Enhancers	Adipose Nuclei	Adipose
37	chr6:34631400-34634200	Enhancers	Hela-S3	cervix
38	chr6:34631600-34632400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:34631600-34632400	Enhancers	HUVEC	blood vessel
40	chr6:34631600-34632600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:34631600-34632600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:34631600-34632600	Enhancers	HMEC	breast
43	chr6:34631600-34632600	Enhancers	NH-A	brain
44	chr6:34631600-34632800	Enhancers	Brain Substantia Nigra	brain
45	chr6:34631600-34632800	Enhancers	Colon Smooth Muscle	Colon
46	chr6:34631600-34632800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr6:34631600-34633000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:34631600-34633000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:34631600-34633000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr6:34631600-34633000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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