Variant report

Variant	rs3781834
Chromosome Location	chr11:121445940-121445941
allele	A/G
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	SPI1	chr11:121445743-121446183	HL-60	blood:	n/a	chr11:121446090-121446099
2	SPI1	chr11:121445730-121446282	HL-60	blood:	n/a	chr11:121446090-121446099
3	PAX5	chr11:121445918-121446377	GM12878	blood:	n/a	chr11:121446090-121446099
4	POLR2A	chr11:121445938-121446322	HL-60	blood:	n/a	n/a
5	BCL3	chr11:121445884-121446287	GM12878	blood:	n/a	chr11:121446090-121446099
6	MAX	chr11:121445888-121446668	GM12878	blood:	n/a	chr11:121446521-121446530 chr11:121446200-121446210
7	POLR2A	chr11:121445875-121446753	GM12891	blood:	n/a	n/a
8	BCL3	chr11:121445799-121446386	GM12878	blood:	n/a	chr11:121446090-121446099
9	RCOR1	chr11:121445621-121446542	IMR90	lung:	n/a	n/a
10	STAT3	chr11:121445899-121446803	GM12878	blood:	n/a	n/a
11	CEBPB	chr11:121445642-121447174	GM12878	blood:	n/a	chr11:121446047-121446058 chr11:121446048-121446059 chr11:121446047-121446060
12	EP300	chr11:121445903-121446629	GM12878	blood:	n/a	chr11:121446045-121446059 chr11:121446085-121446099
13	POLR2A	chr11:121445918-121446128	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:121445747-121446486	GM12892	blood:	n/a	n/a
15	RELA	chr11:121445847-121447037	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:121445846-121446751	GM12891	blood:	n/a	n/a
17	FOXM1	chr11:121445629-121447071	GM12878	blood:	n/a	n/a
18	MTA3	chr11:121445674-121447250	GM12878	blood:	n/a	n/a
19	MEF2A	chr11:121445819-121447030	GM12878	blood:	n/a	n/a
20	EP300	chr11:121445823-121446721	GM12878	blood:	n/a	chr11:121446045-121446059 chr11:121446085-121446099
21	NFIC	chr11:121445704-121446999	GM12878	blood:	n/a	n/a
22	CEBPB	chr11:121445939-121446100	K562	blood:	n/a	chr11:121446047-121446058 chr11:121446048-121446059 chr11:121446047-121446060
23	POLR2A	chr11:121445804-121447792	GM12878	blood:	n/a	n/a
24	CEBPB	chr11:121445857-121446265	IMR90	lung:	n/a	chr11:121446047-121446058 chr11:121446048-121446059 chr11:121446047-121446060
25	YY1	chr11:121445778-121446378	GM12878	blood:	n/a	n/a
26	SPI1	chr11:121445937-121446184	GM12878	blood:	n/a	chr11:121446090-121446099
27	POLR2A	chr11:121445749-121448229	GM12878	blood:	n/a	n/a
28	SPI1	chr11:121445750-121446303	GM12878	blood:	n/a	chr11:121446090-121446099
29	POLR2A	chr11:121445807-121448153	GM12878	blood:	n/a	n/a
30	MXI1	chr11:121445840-121446630	IMR90	lung:	n/a	n/a
31	NFATC1	chr11:121445679-121447139	GM12878	blood:	n/a	n/a
32	STAT5A	chr11:121445823-121447185	GM12878	blood:	n/a	n/a
33	SPI1	chr11:121445710-121446296	GM12891	blood:	n/a	chr11:121446090-121446099
34	REST	chr11:121445890-121446213	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr11:121445894-121446216	HepG2	liver:	n/a	chr11:121446047-121446058 chr11:121446048-121446059 chr11:121446047-121446060
36	TCF12	chr11:121445850-121446396	GM12878	blood:	n/a	n/a
37	YY1	chr11:121445805-121446325	GM12878	blood:	n/a	n/a
38	PAX5	chr11:121445768-121447757	GM12878	blood:	n/a	chr11:121447437-121447454 chr11:121446090-121446099 chr11:121446784-121446803 chr11:121446785-121446803
39	BCLAF1	chr11:121445745-121447046	GM12878	blood:	n/a	chr11:121446090-121446099
40	MYC	chr11:121445585-121446429	NB4	blood:	n/a	chr11:121446200-121446210
41	ATF2	chr11:121445742-121447011	GM12878	blood:	n/a	n/a
42	CREB1	chr11:121445870-121446829	GM12878	blood:	n/a	n/a
43	BCL11A	chr11:121445787-121446823	GM12878	blood:	n/a	chr11:121446090-121446099
44	POLR2A	chr11:121445609-121447631	GM12878	blood:	n/a	n/a
45	MTA3	chr11:121445642-121447755	GM12878	blood:	n/a	n/a
46	EBF1	chr11:121445857-121446341	GM12878	blood:	n/a	n/a
47	CEBPB	chr11:121445930-121446074	H1-hESC	embryonic stem cell:	n/a	chr11:121446047-121446058 chr11:121446048-121446059 chr11:121446047-121446060
48	FOXP2	chr11:121445919-121446351	PFSK-1	brain:	n/a	n/a
49	POU2F2	chr11:121445919-121446280	GM12878	blood:	n/a	n/a
50	ATF2	chr11:121445673-121446925	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SORL1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11218360	0.83[CHB][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs11604897	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12274536	0.81[ASN][1000 genomes]
rs12274541	0.81[ASN][1000 genomes]
rs12287339	0.83[CHB][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs1620130	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17125473	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17125497	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17125523	0.83[CHB][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs2282647	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3737529	1.00[AFR][1000 genomes]
rs3781831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781836	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3781837	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58698151	0.99[ASN][1000 genomes]
rs59260691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120354	0.99[ASN][1000 genomes]
rs73595281	0.98[ASN][1000 genomes]
rs9665907	0.83[CHB][hapmap]

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	nsv975233	chr11:121359656-121574786	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121407200-121459000	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:121414000-121452400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:121416400-121451800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:121416600-121471800	Strong transcription	Primary T cells from cord blood	blood
5	chr11:121417000-121452400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:121417600-121452400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:121418000-121451800	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:121425000-121456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:121425400-121448000	Weak transcription	Stomach Mucosa	stomach
10	chr11:121428200-121451400	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr11:121430800-121446200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:121431000-121466400	Weak transcription	Ovary	ovary
13	chr11:121432800-121450000	Weak transcription	Aorta	Aorta
14	chr11:121434400-121451200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:121434600-121453200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:121434800-121451800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:121435200-121446200	Weak transcription	Fetal Kidney	kidney
18	chr11:121435200-121464800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:121436200-121450400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr11:121437600-121449600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:121437800-121446600	Weak transcription	Right Atrium	heart
22	chr11:121437800-121447800	Weak transcription	Gastric	stomach
23	chr11:121437800-121449600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:121437800-121450000	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr11:121437800-121453600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:121438000-121448200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr11:121438000-121449000	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:121438200-121451200	Strong transcription	HepG2	liver
29	chr11:121438400-121446600	Weak transcription	HMEC	breast
30	chr11:121438400-121453600	Weak transcription	Colonic Mucosa	Colon
31	chr11:121439000-121449200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:121440600-121447400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr11:121440600-121449800	Strong transcription	Dnd41	blood
34	chr11:121440600-121450400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:121440600-121450800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:121440600-121485000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:121440800-121447600	Strong transcription	Fetal Thymus	thymus
38	chr11:121440800-121450200	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr11:121440800-121450200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr11:121440800-121452000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:121441400-121447200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:121441400-121449800	Genic enhancers	Brain Hippocampus Middle	brain
43	chr11:121441400-121451400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:121441600-121447800	Strong transcription	Primary B cells from cord blood	blood
45	chr11:121442200-121456800	Weak transcription	Esophagus	oesophagus
46	chr11:121442600-121451000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr11:121443000-121455000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:121443200-121450200	Strong transcription	NHEK	skin
49	chr11:121443200-121452000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:121443400-121448000	Enhancers	Brain Substantia Nigra	brain

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