Variant report

Variant	rs577383962
Chromosome Location	chr6:33388747-33388748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr6:33387360-33389235	IMR90	lung:	n/a	chr6:33388927-33388937
2	BCLAF1	chr6:33388732-33389176	K562	blood:	n/a	n/a
3	CBX3	chr6:33388654-33389271	K562	blood:	n/a	n/a
4	POLR2A	chr6:33388668-33388824	K562	blood:	n/a	n/a
5	CEBPD	chr6:33388740-33389287	K562	blood:	n/a	n/a
6	BCLAF1	chr6:33388691-33389320	K562	blood:	n/a	n/a
7	REST	chr6:33387196-33388764	H1-neurons	neurons:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
2	chr6:33385453..33389637-chr6:33419628..33424957,5	MCF-7	breast:
3	chr6:33242929..33245218-chr6:33388533..33390277,2	K562	blood:
4	chr6:33357638..33360083-chr6:33386720..33388943,3	MCF-7	breast:
5	chr6:33285422..33287849-chr6:33385883..33388858,2	MCF-7	breast:
6	chr6:33237639..33241732-chr6:33383253..33390116,11	K562	blood:
7	chr6:33357335..33362175-chr6:33383352..33389421,14	K562	blood:
8	chr6:33279097..33283546-chr6:33386045..33390564,5	MCF-7	breast:
9	chr6:33237802..33241730-chr6:33382199..33389112,10	K562	blood:

No data

Variant related genes	Relation type
CUTA	TF binding region
ENSG00000231925	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000237649	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv885769	chr6:33377522-33412197	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv932196	chr6:33383131-33400706	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
6	esv3491403	chr6:33386574-33390272	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
7	esv3491404	chr6:33386574-33390272	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
8	esv3325690	chr6:33386999-33389547	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	esv3404776	chr6:33387074-33389997	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33386000-33392600	Weak transcription	Gastric	stomach
2	chr6:33386200-33389400	Flanking Active TSS	Dnd41	blood
3	chr6:33386600-33389200	Enhancers	Fetal Heart	heart
4	chr6:33386800-33389000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr6:33386800-33389800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr6:33386800-33392600	Weak transcription	Left Ventricle	heart
7	chr6:33387000-33392200	Weak transcription	Hela-S3	cervix
8	chr6:33387200-33388800	Active TSS	Fetal Brain Female	brain
9	chr6:33387400-33389000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:33387400-33389200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr6:33387400-33389600	Active TSS	Brain Angular Gyrus	brain
12	chr6:33387400-33392200	Weak transcription	Placenta	Placenta
13	chr6:33387400-33392200	Weak transcription	Spleen	Spleen
14	chr6:33387600-33388800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:33387600-33389000	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr6:33387600-33389000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:33387600-33389200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr6:33387600-33389200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:33387600-33389400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr6:33387600-33392400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:33387800-33388800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:33387800-33388800	Active TSS	Brain Cingulate Gyrus	brain
23	chr6:33387800-33388800	Active TSS	NHLF	lung
24	chr6:33387800-33389000	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr6:33387800-33389000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:33387800-33389000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:33387800-33389200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:33387800-33389200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:33387800-33389200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:33387800-33389200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:33387800-33389200	Active TSS	Brain Anterior Caudate	brain
32	chr6:33387800-33389200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr6:33387800-33389200	Active TSS	Osteobl	bone
34	chr6:33387800-33389400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:33387800-33389400	Active TSS	Brain Hippocampus Middle	brain
36	chr6:33387800-33389600	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr6:33387800-33391800	Weak transcription	Lung	lung
38	chr6:33387800-33392000	Weak transcription	Small Intestine	intestine
39	chr6:33387800-33392200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:33387800-33392200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr6:33387800-33392200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr6:33387800-33392200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:33387800-33392400	Weak transcription	Primary B cells from cord blood	blood
44	chr6:33387800-33392400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:33387800-33392400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr6:33387800-33392600	Weak transcription	A549	lung
47	chr6:33388000-33389200	Enhancers	Primary T cells fromperipheralblood	blood
48	chr6:33388000-33389400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:33388000-33392400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr6:33388000-33392400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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