Variant report

Variant	rs561625197
Chromosome Location	chr6:33587663-33587664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMARCC1	chr6:33586961-33588673	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr6:33587236-33590289	HUVEC	blood vessel:	n/a	n/a
3	TBP	chr6:33587343-33588752	Hela-S3	cervix:	n/a	n/a
4	E2F4	chr6:33587633-33587790	MCF10A-Er-Src	breast:	n/a	n/a
5	MTA3	chr6:33587620-33589109	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:33587659-33589262	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:56735246..56737826-chr6:33586590..33589099,2	MCF-7	breast:
2	chr6:33587172..33590152-chr6:34203876..34205466,2	K562	blood:
3	chr6:33550022..33555745-chr6:33586647..33590467,5	MCF-7	breast:

Variant related genes	Relation type
ITPR3	TF binding region
ENSG00000204188	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000137309	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS 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	34 gene(s)	inside rSNPs	diseases
4	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
5	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
6	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr6:33578800-33588000	Weak transcription	Gastric	stomach
2	chr6:33579400-33588000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:33581600-33588000	Weak transcription	Brain Anterior Caudate	brain
4	chr6:33582200-33587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:33583800-33587800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:33584000-33587800	Enhancers	Fetal Intestine Small	intestine
7	chr6:33586000-33588000	Enhancers	Spleen	Spleen
8	chr6:33586400-33587800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr6:33586600-33587800	Enhancers	Primary T cells from cord blood	blood
10	chr6:33586600-33587800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:33586600-33587800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr6:33586600-33587800	Enhancers	Fetal Intestine Large	intestine
13	chr6:33586600-33587800	Enhancers	Placenta	Placenta
14	chr6:33586600-33587800	Enhancers	Fetal Thymus	thymus
15	chr6:33586600-33587800	Enhancers	Right Ventricle	heart
16	chr6:33586600-33587800	Enhancers	NHEK	skin
17	chr6:33586600-33588200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:33586800-33587800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:33586800-33587800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:33586800-33587800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr6:33586800-33587800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:33586800-33587800	Enhancers	Colonic Mucosa	Colon
23	chr6:33586800-33587800	Enhancers	Fetal Muscle Trunk	muscle
24	chr6:33586800-33587800	Enhancers	Lung	lung
25	chr6:33586800-33587800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr6:33586800-33587800	Enhancers	Thymus	Thymus
27	chr6:33586800-33588000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:33586800-33588000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:33586800-33588000	Enhancers	Stomach Mucosa	stomach
30	chr6:33586800-33588600	Flanking Bivalent TSS/Enh	HepG2	liver
31	chr6:33587000-33587800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr6:33587000-33587800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr6:33587000-33587800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:33587000-33587800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr6:33587000-33587800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:33587000-33587800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:33587000-33587800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:33587000-33587800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:33587000-33587800	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr6:33587000-33587800	Enhancers	Fetal Stomach	stomach
41	chr6:33587000-33587800	Enhancers	Left Ventricle	heart
42	chr6:33587000-33587800	Enhancers	Pancreas	Pancrea
43	chr6:33587000-33587800	Enhancers	Right Atrium	heart
44	chr6:33587000-33587800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr6:33587000-33587800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr6:33587000-33588000	Enhancers	HSMMtube	muscle
47	chr6:33587000-33588200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr6:33587000-33588600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr6:33587200-33587800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:33587200-33587800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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