Variant report

Variant	rs10898820
Chromosome Location	chr11:71812592-71812593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71811770-71815195	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:71812150-71812910	K562	blood:	n/a	n/a
3	POLR2A	chr11:71811618-71812790	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:71812162-71813024	K562	blood:	n/a	n/a
5	POLR2A	chr11:71811995-71812665	K562	blood:	n/a	n/a
6	POLR2A	chr11:71811165-71815433	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:71812171-71812633	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:71811165-71815380	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr11:71812202-71812608	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:71812077-71812616	GM12891	blood:	n/a	n/a
11	POLR2A	chr11:71812178-71815376	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:71811294-71815346	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:71812011-71813187	HL-60	blood:	n/a	n/a
14	POLR2A	chr11:71812088-71815572	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr11:71811272-71815061	K562	blood:	n/a	n/a
16	POLR2A	chr11:71812044-71813216	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:71811295-71815309	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr11:71811294-71814993	PBDE	blood:	n/a	n/a
19	POLR2A	chr11:71808442-71812800	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:71812096-71815828	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:71811290-71815198	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:71811084-71815426	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr11:71812027-71815714	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:71811045-71815530	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr11:71811206-71815217	K562	blood:	n/a	n/a
26	POLR2A	chr11:71812184-71815364	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71749829..71754834-chr11:71810770..71817366,12	MCF-7	breast:
2	chr11:71747688..71754289-chr11:71810930..71816696,13	MCF-7	breast:
3	chr11:71774601..71777364-chr11:71811846..71813993,2	K562	blood:
4	chr11:71812576..71816251-chr11:71934138..71937267,4	MCF-7	breast:
5	chr11:71722616..71724579-chr11:71811976..71814319,2	K562	blood:
6	chr11:71810891..71813222-chr11:71944678..71946447,2	MCF-7	breast:
7	chr11:71779055..71780591-chr11:71811927..71814080,2	K562	blood:
8	chr11:71747646..71754177-chr11:71811554..71816654,6	K562	blood:
9	chr11:71795514..71800060-chr11:71810684..71814982,4	MCF-7	breast:
10	chr11:71812032..71815862-chr11:71933743..71937376,6	MCF-7	breast:
11	chr11:71789323..71798359-chr11:71810049..71815293,14	MCF-7	breast:
12	chr11:71733604..71737833-chr11:71811997..71815389,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238768	TF binding region
LRTOMT	TF binding region
LAMTOR1	TF binding region
ENSG00000165458	Chromatin interaction
ENSG00000212089	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000137497	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10898815	0.96[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes]
rs10898822	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3793941	0.96[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs4073394	0.96[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10898820	FAM86C1	cis	Muscle Skeletal	GTEx
rs10898820	IL18BP	cis	cerebellum	SCAN
rs10898820	P2RY2	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71792600-71812800	Weak transcription	Fetal Heart	heart
2	chr11:71792600-71813200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:71804000-71812800	Strong transcription	Fetal Stomach	stomach
4	chr11:71804400-71812800	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:71804400-71812800	Strong transcription	A549	lung
6	chr11:71804600-71812600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:71807600-71812800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:71808000-71812600	Strong transcription	Fetal Lung	lung
9	chr11:71808400-71812800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:71809400-71813000	Genic enhancers	Placenta	Placenta
11	chr11:71809400-71813200	Genic enhancers	Right Ventricle	heart
12	chr11:71809800-71812800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:71810000-71812600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:71810000-71812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:71810000-71812800	Genic enhancers	Esophagus	oesophagus
16	chr11:71810000-71813000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:71810000-71813200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:71810200-71812800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:71810200-71813000	Weak transcription	Aorta	Aorta
20	chr11:71810200-71813200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:71810200-71813400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:71810400-71812600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:71810400-71812800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:71810400-71813000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:71810400-71813200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:71810400-71813200	Genic enhancers	Colon Smooth Muscle	Colon
27	chr11:71810400-71813200	Genic enhancers	Fetal Thymus	thymus
28	chr11:71810400-71813400	Weak transcription	Ovary	ovary
29	chr11:71810400-71814000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:71810600-71812600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:71810600-71812600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:71810600-71812800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:71810800-71812600	Genic enhancers	Fetal Brain Female	brain
34	chr11:71810800-71812600	Genic enhancers	Spleen	Spleen
35	chr11:71810800-71812600	Genic enhancers	HMEC	breast
36	chr11:71810800-71813000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr11:71810800-71813000	Genic enhancers	Lung	lung
38	chr11:71810800-71813200	Genic enhancers	Fetal Muscle Leg	muscle
39	chr11:71810800-71813800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr11:71810800-71814000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:71811000-71812600	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr11:71811000-71812600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr11:71811000-71813400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:71811200-71812600	Genic enhancers	Duodenum Mucosa	Duodenum
45	chr11:71811200-71812600	Genic enhancers	Hela-S3	cervix
46	chr11:71811200-71812800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:71811200-71812800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:71811200-71812800	Genic enhancers	NHDF-Ad	bronchial
49	chr11:71811200-71813000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr11:71811200-71813000	Genic enhancers	Fetal Intestine Small	intestine

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