Variant report

Variant	rs11051386
Chromosome Location	chr12:31473330-31473331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:31472547-31473402	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:31472480-31475272	K562	blood:	n/a	n/a
3	CHD1	chr12:31473086-31474679	GM12878	blood:	n/a	n/a
4	SPI1	chr12:31473167-31473485	GM12891	blood:	n/a	n/a
5	POLR2A	chr12:31472139-31473575	GM12878	blood:	n/a	n/a
6	RUNX3	chr12:31473132-31473597	GM12878	blood:	n/a	n/a
7	CUX1	chr12:31473324-31473524	K562	blood:	n/a	n/a
8	CUX1	chr12:31473126-31473572	GM12878	blood:	n/a	n/a
9	STAT3	chr12:31473136-31473579	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:31472783-31473534	H1-hESC	embryonic stem cell:	n/a	n/a
11	IKZF1	chr12:31472912-31473351	GM12878	blood:	n/a	n/a
12	CHD1	chr12:31473279-31473620	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:31472765-31473383	H1-hESC	embryonic stem cell:	n/a	n/a
14	WRNIP1	chr12:31472128-31473334	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:31471948-31480244	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr12:31472977-31473433	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31450442..31457255-chr12:31469614..31474253,6	K562	blood:
2	chr12:31472697..31474603-chr12:31520828..31523492,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177340	TF binding region
ENSG00000256232	Chromatin interaction
ENSG00000238661	Chromatin interaction
ENSG00000139146	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11051394	1.00[ASW][hapmap]
rs12316392	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2758303	chr12:31125467-31491104	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	esv2759890	chr12:31125467-31491104	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv428276	chr12:31125467-31491104	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	esv2751043	chr12:31148662-31499671	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	esv2751053	chr12:31225710-31484881	Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	esv2754121	chr12:31225710-31493435	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	esv2751054	chr12:31225710-31513718	Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	esv35092	chr12:31239600-31484833	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	esv2751071	chr12:31239600-31493435	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	esv2751072	chr12:31239600-31499671	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
14	nsv430477	chr12:31239600-31513718	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
15	esv2751077	chr12:31278031-31499671	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
16	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31457600-31475800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:31460400-31476000	Weak transcription	Lung	lung
3	chr12:31467800-31475800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:31468400-31475600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:31468600-31475600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:31470200-31475400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:31470800-31475800	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:31471000-31473600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:31471000-31475000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:31471000-31475800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr12:31471000-31475800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:31471000-31475800	Weak transcription	Brain Germinal Matrix	brain
13	chr12:31471000-31475800	Enhancers	HepG2	liver
14	chr12:31471200-31474200	Weak transcription	Small Intestine	intestine
15	chr12:31471200-31474200	Weak transcription	NH-A	brain
16	chr12:31471200-31474400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:31471200-31474600	Weak transcription	Osteobl	bone
18	chr12:31471200-31474800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:31471200-31475600	Enhancers	Primary B cells from cord blood	blood
20	chr12:31471200-31475600	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:31471200-31475600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:31471200-31475600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:31471200-31475600	Enhancers	Fetal Heart	heart
24	chr12:31471200-31475800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:31471200-31475800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:31471200-31475800	Weak transcription	Colonic Mucosa	Colon
27	chr12:31471200-31476000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:31471200-31476000	Weak transcription	Fetal Brain Male	brain
29	chr12:31471200-31476000	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:31471200-31476400	Weak transcription	Esophagus	oesophagus
31	chr12:31471400-31473400	Enhancers	Primary T cells from cord blood	blood
32	chr12:31471400-31473400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:31471400-31473800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:31471400-31474200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:31471400-31474600	Weak transcription	HMEC	breast
36	chr12:31471400-31475000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr12:31471400-31475000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:31471400-31475000	Weak transcription	Stomach Mucosa	stomach
39	chr12:31471400-31475000	Weak transcription	HSMM	muscle
40	chr12:31471400-31475200	Weak transcription	Fetal Brain Female	brain
41	chr12:31471400-31475600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:31471400-31475600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:31471400-31475600	Weak transcription	Brain Anterior Caudate	brain
44	chr12:31471400-31475800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:31471400-31475800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:31471400-31475800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:31471400-31475800	Weak transcription	Adipose Nuclei	Adipose
48	chr12:31471400-31475800	Weak transcription	Psoas Muscle	Psoas
49	chr12:31471400-31475800	Weak transcription	Right Ventricle	heart
50	chr12:31471400-31476000	Weak transcription	Fetal Stomach	stomach

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