Variant report

Variant	rs1317826
Chromosome Location	chr11:46387868-46387869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46387231-46389108	K562	blood:	n/a	n/a
2	POLR2A	chr11:46387262-46388878	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:46387834-46387884	SK-N-SH	brain:	n/a
2	chr11:46387834-46387884	PFSK-1	brain:	n/a
3	chr11:46387834-46387884	HRE	kidney:	n/a
4	chr11:46387834-46387884	HCM	heart:	n/a
5	chr11:46387834-46387884	HPAEpiC	pulmonary alveolar:	n/a
6	chr11:46387834-46387884	IMR90	lung:	fetal
7	chr11:46387834-46387884	GM12892	blood:	n/a
8	chr11:46387834-46387884	CMK	blood:	n/a
9	chr11:46387834-46387884	PANC-1	pancreas:	n/a
10	chr11:46387834-46387884	SKMC	muscle:	n/a
11	chr11:46387834-46387884	K562	blood:	n/a
12	chr11:46387834-46387884	HEK293	kidney:	embryo
13	chr11:46387834-46387884	HRPEpiC	eye:	n/a
14	chr11:46387834-46387884	HEEpiC	esophagus:	n/a
15	chr11:46387834-46387884	AoSMC	blood vessel:	n/a
16	chr11:46387834-46387884	RPTEC	kidney:	n/a
17	chr11:46387834-46387884	ECC-1	luminal epithelium:	n/a
18	chr11:46387834-46387884	GM06990	blood:	n/a
19	chr11:46387834-46387884	PrEC	prostate:	n/a
20	chr11:46387834-46387884	MCF-7	breast:	n/a
21	chr11:46387834-46387884	AG09319	gingival:	n/a
22	chr11:46387834-46387884	BJ	skin:	n/a
23	chr11:46387834-46387884	HAEpiC	amniotic membrane:	n/a
24	chr11:46387834-46387884	HCT-116	colon:	n/a
25	chr11:46387834-46387884	AG04449	skin:	fetal
26	chr11:46387834-46387884	Hela-S3	cervix:	n/a
27	chr11:46387834-46387884	Hepatocyte	liver:	n/a
28	chr11:46387834-46387884	NHDF-neo	bronchial:	n/a
29	chr11:46387834-46387884	HCF	heart:	n/a
30	chr11:46387834-46387884	HRCEpiC	kidney:	n/a
31	chr11:46387834-46387884	HNPCEpiC	eye:	n/a
32	chr11:46387834-46387884	HepG2	liver:	n/a
33	chr11:46387834-46387884	GM12891	blood:	n/a
34	chr11:46387834-46387884	NT2-D1	testis:	n/a
35	chr11:46387834-46387884	HUVEC	blood vessel:	n/a
36	chr11:46387834-46387884	MCF10A-Er-Src	breast:	n/a
37	chr11:46387834-46387884	NH-A	brain:	n/a
38	chr11:46387834-46387884	ovcar-3	ovarian:	n/a
39	chr11:46387834-46387884	HIPEpiC	eye:	n/a
40	chr11:46387834-46387884	SK-N-MC	brain:	n/a
41	chr11:46387834-46387884	SAEC	small airway:	n/a
42	chr11:46387834-46387884	HL-60	blood:	n/a
43	chr11:46387834-46387884	Jurkat	blood:	n/a
44	chr11:46387834-46387884	BE2_C	brain:	n/a
45	chr11:46387834-46387884	U87	brain:	n/a
46	chr11:46387834-46387884	SK-N-SH_RA	brain:	n/a
47	chr11:46387834-46387884	A549	lung:	n/a
48	chr11:46387834-46387884	AG10803	skin:	n/a
49	chr11:46387834-46387884	LNCaP	prostate:	n/a
50	chr11:46387834-46387884	Caco-2	colon:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46373841..46375841-chr11:46385568..46388560,2	MCF-7	breast:
2	chr11:46384281..46388087-chr11:46397100..46400474,3	MCF-7	breast:
3	chr11:46366347..46371334-chr11:46384499..46389085,13	MCF-7	breast:

No data

Variant related genes	Relation type
DGKZ	TF binding region
DGKZ	CpG island
ENSG00000264102	Chromatin interaction
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10838601	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11038866	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11038871	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038910	0.87[EUR][1000 genomes]
rs17787804	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs3740973	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3802890	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6485686	0.82[EUR][1000 genomes]
rs7484125	0.87[EUR][1000 genomes]
rs7925678	0.89[EUR][1000 genomes]
rs7949282	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46370000-46395800	Weak transcription	Aorta	Aorta
2	chr11:46374400-46389600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:46374400-46389600	Weak transcription	Fetal Brain Female	brain
4	chr11:46376000-46389600	Weak transcription	Brain Germinal Matrix	brain
5	chr11:46378600-46389400	Weak transcription	HepG2	liver
6	chr11:46383200-46389800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:46383400-46388800	Weak transcription	Ovary	ovary
8	chr11:46383600-46389400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:46383600-46389800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:46383600-46392200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:46383600-46402000	Weak transcription	Fetal Brain Male	brain
12	chr11:46383800-46389000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr11:46383800-46389400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr11:46383800-46389400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr11:46384000-46390000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr11:46384000-46390400	Enhancers	Fetal Heart	heart
17	chr11:46384200-46388400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:46384200-46389800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:46384200-46389800	Genic enhancers	Fetal Thymus	thymus
20	chr11:46384200-46391800	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr11:46384400-46390000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:46384400-46391600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:46384600-46390200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:46384800-46388000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:46384800-46388000	Weak transcription	Fetal Intestine Large	intestine
26	chr11:46384800-46389600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:46384800-46389800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:46384800-46395600	Weak transcription	Small Intestine	intestine
29	chr11:46385000-46388400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr11:46385000-46388600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:46385000-46388600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr11:46385000-46388600	Weak transcription	Fetal Lung	lung
33	chr11:46385000-46388600	Weak transcription	Stomach Mucosa	stomach
34	chr11:46385000-46388600	Weak transcription	K562	blood
35	chr11:46385200-46388600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:46385200-46388800	Strong transcription	Fetal Intestine Small	intestine
37	chr11:46385200-46389600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:46385200-46389600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:46385200-46389600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:46385200-46391600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:46385200-46393000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:46385200-46400600	Strong transcription	Thymus	Thymus
43	chr11:46385400-46388000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:46385400-46388400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:46385400-46388400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:46385400-46388600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:46385400-46388600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:46385400-46389200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:46385400-46401200	Strong transcription	Dnd41	blood
50	chr11:46385600-46388200	Weak transcription	Colonic Mucosa	Colon

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