Variant report

Variant	rs530939332
Chromosome Location	chr6:26342186-26342187
allele	A/G
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26341882..26342492-chr6:26420774..26421520,2	MCF-7	breast:
2	chr6:26331178..26331773-chr6:26341935..26342536,2	K562	blood:
3	chr6:26338939..26342494-chr6:26519686..26522747,3	K562	blood:
4	chr6:26339658..26342406-chr6:26483476..26486207,2	K562	blood:
5	chr6:26340224..26342444-chr6:26572464..26573981,2	K562	blood:
6	chr6:26341837..26342412-chr6:26411698..26412292,2	MCF-7	breast:
7	chr6:26340823..26342973-chr6:26490879..26493737,2	K562	blood:
8	chr6:26338579..26343405-chr6:26519686..26522615,5	K562	blood:
9	chr6:26339036..26342767-chr6:26596200..26598139,3	K562	blood:
10	chr6:26272455..26274796-chr6:26340559..26343243,3	MCF-7	breast:
11	chr6:26340224..26344158-chr6:26569567..26573981,6	K562	blood:
12	chr6:26341932..26342432-chr6:26543775..26544497,2	MCF-7	breast:
13	chr6:26323184..26324056-chr6:26341539..26342363,2	K562	blood:
14	chr6:26342125..26345094-chr6:26474079..26475850,2	K562	blood:
15	chr6:26341496..26342438-chr6:26493055..26494222,5	K562	blood:
16	chr6:26341541..26342734-chr6:26595701..26596713,9	K562	blood:
17	chr6:26341191..26342496-chr6:26493295..26494195,4	MCF-7	breast:
18	chr6:26341478..26343917-chr6:26362438..26365038,2	K562	blood:
19	chr6:26340127..26342724-chr6:26570668..26572890,2	MCF-7	breast:
20	chr6:26342168..26345048-chr6:26509847..26512007,2	MCF-7	breast:
21	chr6:26341264..26342451-chr6:26569043..26570054,3	K562	blood:
22	chr6:26340614..26342213-chr6:26550720..26552761,2	K562	blood:
23	chr6:26342033..26344696-chr6:26521826..26523631,2	MCF-7	breast:
24	chr6:26341644..26342483-chr6:26450003..26451206,4	MCF-7	breast:
25	chr6:26341150..26343678-chr6:26575652..26577197,2	K562	blood:
26	chr6:26341603..26342500-chr6:26520725..26521500,3	K562	blood:
27	chr6:26341984..26342515-chr6:26596029..26596572,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000218690	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000199289	Chromatin interaction
ENSG00000168242	Chromatin interaction
ENSG00000146109	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
6	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
7	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription 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	45 gene(s)	inside rSNPs	diseases
8	nsv5230	chr6:26321593-26361531	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	esv3521788	chr6:26334022-26356973	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3521789	chr6:26334022-26356973	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv601174	chr6:26341301-26350938	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26333000-26342200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:26337400-26342200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:26337400-26342200	Weak transcription	NHDF-Ad	bronchial
4	chr6:26337600-26342200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:26337600-26342200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:26337600-26342200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:26337600-26342200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:26337600-26342200	Weak transcription	HUVEC	blood vessel
9	chr6:26337600-26342200	Enhancers	K562	blood
10	chr6:26337600-26342200	Weak transcription	NHEK	skin
11	chr6:26337600-26342200	Weak transcription	NHLF	lung
12	chr6:26337800-26342200	Weak transcription	HMEC	breast
13	chr6:26341400-26342200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:26341400-26343000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:26341600-26342600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:26341600-26342800	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:26341600-26342800	Flanking Active TSS	HepG2	liver
18	chr6:26341600-26343000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr6:26341600-26343200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:26341800-26342200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:26341800-26342200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:26341800-26342200	Enhancers	Brain Angular Gyrus	brain
23	chr6:26341800-26342200	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr6:26341800-26342200	Bivalent Enhancer	Fetal Stomach	stomach
25	chr6:26341800-26342400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:26341800-26342400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:26341800-26342400	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:26341800-26342400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:26341800-26342400	Enhancers	Esophagus	oesophagus
30	chr6:26341800-26342400	Enhancers	Placenta	Placenta
31	chr6:26341800-26342400	Enhancers	Lung	lung
32	chr6:26341800-26342400	Enhancers	Pancreas	Pancrea
33	chr6:26341800-26342600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:26341800-26342600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr6:26341800-26342600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:26341800-26342800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr6:26341800-26342800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:26341800-26342800	Flanking Active TSS	Dnd41	blood
39	chr6:26341800-26343000	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr6:26341800-26343000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr6:26341800-26343000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:26342000-26342200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:26342000-26342200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:26342000-26342200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr6:26342000-26342200	Bivalent Enhancer	Primary B cells from cord blood	blood
46	chr6:26342000-26342200	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr6:26342000-26342200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:26342000-26342200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr6:26342000-26342200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:26342000-26342200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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