Variant report

Variant	rs11610853
Chromosome Location	chr12:121716986-121716987
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121716715-121717173	HUVEC	blood vessel:	n/a	n/a
2	RCOR1	chr12:121716346-121717369	IMR90	lung:	n/a	n/a
3	POLR2A	chr12:121716194-121717743	HL-60	blood:	n/a	n/a
4	POLR2A	chr12:121715990-121717188	HL-60	blood:	n/a	n/a
5	POLR2A	chr12:121716619-121717204	HUVEC	blood vessel:	n/a	n/a
6	MYC	chr12:121716893-121717004	HUVEC	blood vessel:	n/a	n/a
7	NFIC	chr12:121716724-121717177	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:121713150..121717520-chr12:121730584..121734759,5	MCF-7	breast:
2	chr12:121716004..121718724-chr12:121719656..121721765,2	MCF-7	breast:
3	chr12:121711495..121713766-chr12:121715448..121718429,2	MCF-7	breast:

No data

Variant related genes	Relation type
CAMKK2	TF binding region
ENSG00000110931	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1109453	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7964571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121677400-121717000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:121677400-121717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
4	chr12:121681200-121717800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:121688400-121733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:121689200-121717000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:121699800-121717200	Weak transcription	Fetal Heart	heart
8	chr12:121706600-121726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:121707000-121733200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:121707400-121720200	Weak transcription	K562	blood
11	chr12:121707400-121733200	Weak transcription	HSMM	muscle
12	chr12:121707600-121719200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:121707600-121724600	Weak transcription	Fetal Brain Male	brain
14	chr12:121708800-121730200	Weak transcription	HepG2	liver
15	chr12:121708800-121733400	Weak transcription	HSMMtube	muscle
16	chr12:121709200-121719000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:121709200-121726000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:121709400-121718600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:121711400-121719800	Weak transcription	Small Intestine	intestine
20	chr12:121711400-121732200	Weak transcription	Hela-S3	cervix
21	chr12:121711600-121717200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:121711800-121717400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:121711800-121732200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:121712000-121725400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:121712000-121729000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:121712000-121732000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:121712200-121717000	Weak transcription	NHLF	lung
28	chr12:121712200-121726000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:121712200-121728400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:121712400-121717000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:121712400-121717200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:121712400-121718200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:121712400-121719000	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:121712400-121719800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:121712400-121721000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:121712400-121721000	Weak transcription	Dnd41	blood
37	chr12:121712400-121727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:121712400-121733000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:121712400-121733200	Weak transcription	Aorta	Aorta
40	chr12:121712600-121717000	Weak transcription	Esophagus	oesophagus
41	chr12:121712600-121719000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:121712600-121720800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:121712600-121726200	Weak transcription	Thymus	Thymus
44	chr12:121712600-121732200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:121713000-121717200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:121713000-121728400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:121713000-121732200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:121713200-121717000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:121713400-121717000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:121713600-121719200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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