Variant report

Variant	rs58556649
Chromosome Location	chr6:31770005-31770006
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	chr6:31767735..31770421-chr6:31830479..31834211,3	K562	blood:
2	chr6:31767528..31770908-chr6:31772125..31775627,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204385	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000204392	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11576013	0.92[ASN][1000 genomes]
rs12177823	0.88[EUR][1000 genomes]
rs17201192	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17201248	0.92[ASN][1000 genomes]
rs2075787	0.88[EUR][1000 genomes]
rs2293852	0.83[ASN][1000 genomes]
rs28399972	0.85[ASN][1000 genomes]
rs61504963	0.87[ASN][1000 genomes]
rs707927	0.92[ASN][1000 genomes]
rs805263	0.82[ASN][1000 genomes]
rs9296001	0.88[EUR][1000 genomes]
rs9461717	0.88[EUR][1000 genomes]
rs9461718	0.88[EUR][1000 genomes]
rs9461719	0.88[EUR][1000 genomes]
rs9461721	0.88[EUR][1000 genomes]
rs9469046	0.88[EUR][1000 genomes]
rs9469054	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9469058	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9469063	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
10	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
11	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
13	nsv884426	chr6:31728102-31800868	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
14	nsv884427	chr6:31728102-31802465	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
15	nsv884428	chr6:31728102-31870326	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
16	nsv884429	chr6:31730356-31837066	Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
17	nsv884430	chr6:31731881-31800631	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
18	nsv884432	chr6:31734117-31777687	Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
19	nsv884433	chr6:31737701-31777687	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
20	nsv884437	chr6:31739881-31777687	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
21	nsv884440	chr6:31743882-31775984	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
22	nsv884443	chr6:31745518-31777687	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
23	nsv884447	chr6:31760654-31770770	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31763600-31773600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:31763800-31773600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:31763800-31773800	Weak transcription	Gastric	stomach
4	chr6:31764000-31773400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:31764000-31773600	Weak transcription	Fetal Kidney	kidney
6	chr6:31764000-31773600	Weak transcription	HSMMtube	muscle
7	chr6:31764000-31773600	Weak transcription	NHDF-Ad	bronchial
8	chr6:31764000-31773600	Weak transcription	NHLF	lung
9	chr6:31764000-31773800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:31764000-31773800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:31764000-31773800	Weak transcription	Esophagus	oesophagus
12	chr6:31764000-31774000	Weak transcription	Aorta	Aorta
13	chr6:31764000-31774000	Weak transcription	Ovary	ovary
14	chr6:31764200-31770200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:31764200-31771400	Weak transcription	Right Atrium	heart
16	chr6:31764200-31773000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:31764200-31773400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:31764200-31773400	Weak transcription	Osteobl	bone
19	chr6:31764200-31773600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:31764200-31773600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:31764200-31773600	Weak transcription	Liver	Liver
22	chr6:31764200-31773600	Weak transcription	Brain Angular Gyrus	brain
23	chr6:31764200-31773600	Weak transcription	Brain Anterior Caudate	brain
24	chr6:31764200-31773600	Weak transcription	Brain Substantia Nigra	brain
25	chr6:31764200-31773600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:31764200-31773600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:31764200-31773600	Weak transcription	Psoas Muscle	Psoas
28	chr6:31764200-31773600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:31764200-31773600	Weak transcription	A549	lung
30	chr6:31764200-31773600	Weak transcription	HSMM	muscle
31	chr6:31764200-31773800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:31764200-31773800	Weak transcription	Right Ventricle	heart
33	chr6:31764200-31773800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:31764200-31774000	Weak transcription	Left Ventricle	heart
35	chr6:31764400-31773400	Weak transcription	Hela-S3	cervix
36	chr6:31764400-31773600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:31764400-31773600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:31764400-31773600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:31764400-31773600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:31764400-31773600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:31764400-31773600	Weak transcription	Colonic Mucosa	Colon
42	chr6:31764400-31773600	Weak transcription	Colon Smooth Muscle	Colon
43	chr6:31764400-31773600	Weak transcription	Pancreas	Pancrea
44	chr6:31764400-31773600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:31764400-31773600	Weak transcription	Stomach Mucosa	stomach
46	chr6:31764400-31773600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr6:31764600-31771600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:31764800-31772200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:31765000-31772000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr6:31765000-31773400	Strong transcription	Fetal Stomach	stomach

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