Variant report

Variant	rs11610880
Chromosome Location	chr12:32261987-32261988
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:32261787-32262095	GM12878	blood:	n/a	n/a
2	SPI1	chr12:32261734-32262208	HL-60	blood:	n/a	n/a
3	POLR2A	chr12:32259145-32262099	IMR90	lung:	n/a	n/a
4	RCOR1	chr12:32261754-32262123	K562	blood:	n/a	n/a
5	EP300	chr12:32261904-32262246	K562	blood:	n/a	n/a
6	JUN	chr12:32258796-32262329	K562	blood:	n/a	n/a
7	SPI1	chr12:32261790-32262089	GM12891	blood:	n/a	n/a
8	SPI1	chr12:32261714-32262135	GM12891	blood:	n/a	n/a
9	MXI1	chr12:32258712-32262487	SK-N-SH	brain:	n/a	chr12:32259312-32259321
10	REST	chr12:32259081-32262319	H1-neurons	neurons:	n/a	chr12:32259715-32259725
11	SPI1	chr12:32261823-32262037	K562	blood:	n/a	n/a
12	POLR2A	chr12:32261731-32262146	H1-neurons	neurons:	n/a	n/a
13	SIN3A	chr12:32261755-32262139	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:32261737-32262171	H1-neurons	neurons:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:32260676..32263344-chr12:32452464..32455287,2	MCF-7	breast:
2	chr12:32260677..32263592-chr12:32286494..32288195,2	MCF-7	breast:
3	chr12:32260649..32262291-chr12:32271936..32273601,2	MCF-7	breast:
4	chr12:32261687..32264441-chr12:32470359..32472104,2	MCF-7	breast:
5	chr12:32260830..32263543-chr12:32269172..32271594,2	MCF-7	breast:
6	chr12:32246977..32248862-chr12:32261358..32263191,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257530	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11051855	1.00[AMR][1000 genomes]
rs17587443	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS 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 miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32258800-32262400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:32258800-32263000	Active TSS	Fetal Brain Female	brain
3	chr12:32259000-32262000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:32259000-32262000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:32259000-32262000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr12:32259000-32262400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:32259000-32262400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:32259000-32263200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr12:32259000-32263200	Active TSS	Ovary	ovary
10	chr12:32259200-32262000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:32259200-32262200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:32259200-32262200	Active TSS	Aorta	Aorta
13	chr12:32259200-32262400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:32259200-32263400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr12:32259400-32262000	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr12:32259400-32262400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:32259400-32262400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:32259400-32263000	Active TSS	H1 Cell Line	embryonic stem cell
19	chr12:32259400-32263000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr12:32259400-32263000	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr12:32260000-32262200	Active TSS	Fetal Brain Male	brain
22	chr12:32260200-32262200	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr12:32260200-32262400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:32260200-32262400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:32260400-32262200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr12:32260400-32262400	Flanking Active TSS	Dnd41	blood
27	chr12:32260400-32262400	Flanking Active TSS	HUVEC	blood vessel
28	chr12:32260400-32267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:32260600-32262000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr12:32260600-32262200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:32260600-32262400	Active TSS	Right Atrium	heart
32	chr12:32260600-32263000	Weak transcription	Gastric	stomach
33	chr12:32260800-32262200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:32260800-32262400	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr12:32261000-32262200	Active TSS	Fetal Stomach	stomach
36	chr12:32261000-32262200	Enhancers	Small Intestine	intestine
37	chr12:32261000-32268600	Weak transcription	Spleen	Spleen
38	chr12:32261200-32262000	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr12:32261200-32262000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr12:32261200-32262000	Active TSS	Fetal Intestine Large	intestine
41	chr12:32261200-32262000	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr12:32261200-32262200	Enhancers	Primary B cells from peripheral blood	blood
43	chr12:32261200-32262200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:32261200-32262200	Enhancers	Colon Smooth Muscle	Colon
45	chr12:32261200-32262200	Enhancers	Duodenum Mucosa	Duodenum
46	chr12:32261200-32262200	Enhancers	Fetal Heart	heart
47	chr12:32261200-32262200	Enhancers	Fetal Lung	lung
48	chr12:32261200-32262400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr12:32261200-32263200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:32261200-32263200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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