Variant report

Variant	rs6966560
Chromosome Location	chr7:116592389-116592390
allele	A/C
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	POLR2A	chr7:116590754-116592489	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:116591186-116595400	MCF10A-Er-Src	breast:	n/a	n/a
3	HCFC1	chr7:116591091-116592493	K562	blood:	n/a	n/a
4	IRF1	chr7:116590928-116595835	K562	blood:	n/a	chr7:116592440-116592452 chr7:116594741-116594753 chr7:116592072-116592093
5	PML	chr7:116590996-116592419	K562	blood:	n/a	chr7:116591118-116591127
6	POLR2A	chr7:116591120-116592463	K562	blood:	n/a	n/a
7	JUN	chr7:116588540-116596631	K562	blood:	n/a	chr7:116591120-116591128 chr7:116591120-116591127 chr7:116596122-116596134 chr7:116596020-116596032 chr7:116596225-116596237 chr7:116591120-116591128
8	POLR2A	chr7:116591488-116592402	K562	blood:	n/a	n/a
9	POLR2A	chr7:116591040-116592431	K562	blood:	n/a	n/a
10	IRF1	chr7:116591065-116593942	K562	blood:	n/a	chr7:116592440-116592452 chr7:116592072-116592093
11	TEAD4	chr7:116590883-116592392	K562	blood:	n/a	n/a
12	NR2F2	chr7:116589297-116593476	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:116515467..116517553-chr7:116591140..116593900,3	K562	blood:
2	chr7:116589849..116592788-chr7:116643834..116645467,2	K562	blood:
3	chr7:116592155..116595657-chr7:116596511..116599037,5	MCF-7	breast:
4	chr7:116589852..116592441-chr7:116629486..116632404,2	K562	blood:
5	chr7:116591034..116595853-chr7:116650615..116657201,10	K562	blood:
6	chr7:116592302..116594663-chr7:116658883..116661789,2	MCF-7	breast:
7	chr7:116591613..116593469-chr7:116756690..116759976,4	K562	blood:
8	chr7:116501669..116504720-chr7:116591889..116594956,5	K562	blood:
9	chr7:116591200..116595164-chr7:116659811..116663168,5	K562	blood:
10	chr7:116590784..116596766-chr7:116599392..116609813,21	MCF-7	breast:
11	chr7:116502166..116506934-chr7:116591377..116594260,5	MCF-7	breast:
12	chr7:116589691..116599368-chr7:116647062..116658963,30	K562	blood:
13	chr7:116515300..116517420-chr7:116591402..116594078,3	K562	blood:

Variant related genes	Relation type
ST7-OT4	TF binding region
ST7	TF binding region
ENSG00000228368	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000235945	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11980673	0.94[AFR][1000 genomes]
rs11982484	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs34070870	0.94[AFR][1000 genomes]
rs6951632	0.94[AFR][1000 genomes]
rs6979871	1.00[YRI][hapmap]
rs73475008	0.94[AFR][1000 genomes]
rs7776604	1.00[MEX][hapmap]
rs7788974	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7789152	1.00[MEX][hapmap]
rs7793358	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116570800-116592800	Weak transcription	Right Atrium	heart
2	chr7:116583000-116593000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:116589000-116592800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:116589400-116592600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:116589400-116592800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:116589600-116592800	Weak transcription	Pancreas	Pancrea
7	chr7:116589600-116592800	Weak transcription	Stomach Mucosa	stomach
8	chr7:116589600-116593000	Weak transcription	Gastric	stomach
9	chr7:116590000-116592800	Weak transcription	Aorta	Aorta
10	chr7:116590000-116592800	Weak transcription	Right Ventricle	heart
11	chr7:116590400-116592800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:116590400-116592800	Weak transcription	Left Ventricle	heart
13	chr7:116590800-116592800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:116591000-116592800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:116591000-116593200	Flanking Active TSS	K562	blood
16	chr7:116591600-116592600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:116591600-116592600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:116591600-116592600	Enhancers	A549	lung
19	chr7:116591600-116592800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:116591800-116592400	Active TSS	Rectal Smooth Muscle	rectum
21	chr7:116591800-116592600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:116591800-116592600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:116591800-116592800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr7:116591800-116592800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:116591800-116592800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr7:116591800-116592800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:116591800-116592800	Active TSS	Adipose Nuclei	Adipose
28	chr7:116591800-116592800	Active TSS	Duodenum Mucosa	Duodenum
29	chr7:116591800-116592800	Enhancers	Fetal Muscle Leg	muscle
30	chr7:116591800-116592800	Active TSS	Placenta	Placenta
31	chr7:116591800-116592800	Weak transcription	Lung	lung
32	chr7:116591800-116592800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr7:116591800-116592800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr7:116591800-116592800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:116591800-116592800	Flanking Active TSS	Hela-S3	cervix
36	chr7:116591800-116592800	Active TSS	HepG2	liver
37	chr7:116591800-116594600	Active TSS	Esophagus	oesophagus
38	chr7:116592000-116592600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:116592000-116592600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr7:116592000-116592600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:116592000-116592600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:116592000-116592800	Enhancers	Colon Smooth Muscle	Colon
43	chr7:116592000-116592800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr7:116592000-116592800	Enhancers	GM12878-XiMat	blood
45	chr7:116592000-116592800	Enhancers	NHEK	skin
46	chr7:116592000-116593400	Flanking Active TSS	Fetal Heart	heart
47	chr7:116592200-116592400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr7:116592200-116592600	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr7:116592200-116592600	Enhancers	Stomach Smooth Muscle	stomach
50	chr7:116592200-116592800	Enhancers	HUES64 Cell Line	embryonic stem cell

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