Variant report

Variant	rs12295531
Chromosome Location	chr11:121108515-121108516
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	chr11:121107951-121109018	GM12892	blood:	n/a	n/a
2	POU2F2	chr11:121108001-121108608	GM12891	blood:	n/a	n/a
3	IKZF1	chr11:121107666-121109222	GM12878	blood:	n/a	n/a
4	FOXA1	chr11:121108144-121108898	T-47D	breast:	n/a	n/a
5	CTCF	chr11:121108464-121108530	GM12891	blood:	n/a	n/a
6	MTA3	chr11:121106646-121108654	GM12878	blood:	n/a	n/a
7	YY1	chr11:121108067-121108567	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:121106866-121109256	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:121107327-121109098	GM12892	blood:	n/a	n/a
10	FOXA1	chr11:121108468-121108888	HepG2	liver:	n/a	n/a
11	KAP1	chr11:121108345-121109702	HEK293	kidney:	n/a	n/a
12	CTCF	chr11:121108430-121108558	GM12892	blood:	n/a	n/a
13	EBF1	chr11:121108069-121108675	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:121106909-121109148	GM12878	blood:	n/a	n/a
15	CHD2	chr11:121108480-121108522	GM12878	blood:	n/a	n/a
16	NFIC	chr11:121106546-121109225	GM12878	blood:	n/a	n/a
17	CTCF	chr11:121108071-121108985	GM12878	blood:	n/a	chr11:121108813-121108821
18	RUNX3	chr11:121107882-121108596	GM12878	blood:	n/a	n/a
19	POU2F2	chr11:121107837-121109140	GM12878	blood:	n/a	n/a
20	FOXM1	chr11:121107858-121108964	GM12878	blood:	n/a	n/a
21	CTCF	chr11:121108432-121108542	GM19238	blood:	n/a	n/a
22	POLR2A	chr11:121108336-121108520	GM12878	blood:	n/a	n/a
23	RUNX3	chr11:121107811-121109390	GM12878	blood:	n/a	chr11:121109155-121109164 chr11:121109155-121109164 chr11:121109006-121109023
24	ZNF143	chr11:121108239-121108561	GM12878	blood:	n/a	n/a
25	CTCF	chr11:121108395-121108539	GM19239	blood:	n/a	n/a
26	ELF1	chr11:121108311-121108562	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:121106978-121109014	GM12878	blood:	n/a	n/a
28	KAP1	chr11:121108506-121109645	U2OS	brain:	n/a	n/a
29	SPI1	chr11:121107601-121108750	GM12878	blood:	n/a	n/a
30	MAX	chr11:121108003-121108522	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254515	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10790422	0.80[YRI][hapmap]
rs12276890	0.83[AMR][1000 genomes]
rs12289923	0.85[AMR][1000 genomes]
rs4144287	0.82[YRI][hapmap]
rs7108763	0.81[AMR][1000 genomes]
rs7112341	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042295	chr11:121072853-121177079	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv975986	chr11:121106081-121115293	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121104400-121108600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr11:121104400-121109000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr11:121104400-121110600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:121104600-121108800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr11:121104600-121109400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:121104600-121110000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:121104600-121110200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:121104600-121113200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:121104800-121109200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:121104800-121113200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:121105600-121112800	Enhancers	Fetal Muscle Leg	muscle
12	chr11:121105800-121109000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:121105800-121113800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:121106000-121110200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:121106600-121110400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:121106600-121112800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:121106800-121108800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:121106800-121109000	Enhancers	NH-A	brain
19	chr11:121106800-121109600	Enhancers	NHEK	skin
20	chr11:121107000-121108600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:121107000-121108600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:121107000-121109400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:121107000-121109600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:121107400-121108600	Enhancers	Gastric	stomach
25	chr11:121107400-121108600	Enhancers	Left Ventricle	heart
26	chr11:121107400-121109400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:121107600-121108600	Enhancers	Esophagus	oesophagus
28	chr11:121107600-121108600	Flanking Active TSS	HSMM	muscle
29	chr11:121107600-121108800	Flanking Active TSS	HSMMtube	muscle
30	chr11:121107800-121108600	Active TSS	Duodenum Mucosa	Duodenum
31	chr11:121107800-121111000	Weak transcription	Right Atrium	heart
32	chr11:121107800-121112000	Weak transcription	Liver	Liver
33	chr11:121107800-121112400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:121107800-121116800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:121108000-121109000	Enhancers	Osteobl	bone
36	chr11:121108000-121109400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr11:121108000-121110400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:121108000-121111200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:121108000-121111600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:121108200-121108600	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr11:121108200-121108600	Enhancers	Pancreas	Pancrea
42	chr11:121108200-121109400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:121108200-121109400	Flanking Active TSS	GM12878-XiMat	blood
44	chr11:121108200-121109400	Enhancers	HUVEC	blood vessel
45	chr11:121108200-121110600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:121108400-121108600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr11:121108400-121108600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr11:121108400-121108600	Enhancers	Fetal Muscle Trunk	muscle
49	chr11:121108400-121109000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:121108400-121109200	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links