Variant report

Variant	rs1785560
Chromosome Location	chr18:9116080-9116081
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	POLR2A	chr18:9116018-9116155	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr18:9116058-9116343	K562	blood:	n/a	n/a
3	STAT5A	chr18:9115983-9116354	K562	blood:	n/a	n/a
4	POLR2A	chr18:9116006-9116293	K562	blood:	n/a	n/a
5	GATA2	chr18:9116077-9116308	K562	blood:	n/a	n/a
6	POLR2A	chr18:9115935-9116201	K562	blood:	n/a	n/a
7	TAL1	chr18:9116071-9116414	K562	blood:	n/a	chr18:9116228-9116236
8	EP300	chr18:9116061-9116338	K562	blood:	n/a	n/a
9	TEAD4	chr18:9115914-9116322	K562	blood:	n/a	n/a
10	POLR2A	chr18:9116018-9116291	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9115829..9117482-chr18:9134395..9136348,2	MCF-7	breast:
2	chr18:9113884..9116180-chr18:9136154..9138641,4	K562	blood:
3	chr18:9102683..9104324-chr18:9114737..9116344,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263847	TF binding region
NDUFV2	TF binding region
ENSG00000101745	Chromatin interaction
ENSG00000178127	Chromatin interaction
ENSG00000266053	Chromatin interaction
ENSG00000265257	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10451358	0.91[CEU][hapmap]
rs1156044	1.00[CEU][hapmap]
rs11660603	0.91[CEU][hapmap]
rs1703820	0.88[MEX][hapmap]
rs2028656	0.91[CEU][hapmap]
rs4130178	0.91[CEU][hapmap]
rs4798771	0.91[CEU][hapmap]
rs4798785	0.91[CEU][hapmap]
rs4798789	0.91[CEU][hapmap]
rs4798790	0.91[CEU][hapmap]
rs6506644	0.91[CEU][hapmap]
rs6506648	0.91[CEU][hapmap]
rs7229883	0.91[CEU][hapmap]
rs7231452	0.91[CEU][hapmap]
rs7235514	0.91[CEU][hapmap]
rs8083078	0.91[CEU][hapmap]
rs8084822	1.00[CEU][hapmap]
rs8092135	0.91[CEU][hapmap]
rs8092613	0.91[CEU][hapmap]
rs8092878	1.00[CEU][hapmap]
rs874250	0.91[CEU][hapmap]
rs906807	0.90[CEU][hapmap]
rs9652952	0.89[CEU][hapmap]
rs998171	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9103800-9117000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:9104400-9116800	Weak transcription	Esophagus	oesophagus
3	chr18:9104400-9117000	Weak transcription	Lung	lung
4	chr18:9104400-9130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:9106200-9116800	Weak transcription	Placenta	Placenta
6	chr18:9106200-9117000	Enhancers	Colon Smooth Muscle	Colon
7	chr18:9106200-9123200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr18:9107000-9135200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr18:9107400-9135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:9107600-9116400	Weak transcription	HMEC	breast
11	chr18:9107600-9123200	Weak transcription	Thymus	Thymus
12	chr18:9107800-9116800	Enhancers	Primary B cells from peripheral blood	blood
13	chr18:9107800-9116800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr18:9107800-9134600	Weak transcription	Fetal Brain Male	brain
15	chr18:9108000-9116600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr18:9108000-9117400	Weak transcription	Fetal Kidney	kidney
17	chr18:9108200-9123000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr18:9108200-9127200	Weak transcription	Fetal Brain Female	brain
19	chr18:9109200-9116800	Weak transcription	Gastric	stomach
20	chr18:9109600-9117000	Weak transcription	Brain Germinal Matrix	brain
21	chr18:9109600-9117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr18:9109600-9123200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr18:9110000-9116600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr18:9110200-9117400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr18:9110600-9118200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr18:9110800-9116800	Weak transcription	Aorta	Aorta
27	chr18:9111200-9117400	Weak transcription	Fetal Intestine Large	intestine
28	chr18:9111200-9117600	Weak transcription	Fetal Lung	lung
29	chr18:9111200-9125400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr18:9111600-9116800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr18:9111600-9116800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr18:9111600-9126800	Weak transcription	Colonic Mucosa	Colon
33	chr18:9111800-9123400	Weak transcription	Fetal Stomach	stomach
34	chr18:9112000-9117800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:9112400-9116600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr18:9112400-9118400	Enhancers	Liver	Liver
37	chr18:9112600-9116800	Weak transcription	Fetal Thymus	thymus
38	chr18:9112800-9116600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr18:9113000-9116800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr18:9113000-9116800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr18:9113000-9117000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:9113000-9119800	Enhancers	Brain Hippocampus Middle	brain
43	chr18:9113200-9117400	Enhancers	HepG2	liver
44	chr18:9113400-9116600	Enhancers	Stomach Smooth Muscle	stomach
45	chr18:9113400-9118800	Genic enhancers	K562	blood
46	chr18:9113600-9116200	Weak transcription	Brain Angular Gyrus	brain
47	chr18:9113600-9116600	Weak transcription	HSMMtube	muscle
48	chr18:9113600-9117400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr18:9113800-9117200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr18:9114000-9116200	Weak transcription	Duodenum Mucosa	Duodenum

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