Variant report

Variant	rs2292910
Chromosome Location	chr11:45903613-45903614
allele	A/C
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	chr11:45903484-45903684	GM12878	blood:	n/a	n/a
2	JUND	chr11:45901178-45903705	SK-N-SH	brain:	n/a	chr11:45901908-45901918 chr11:45901910-45901917 chr11:45901909-45901918 chr11:45901907-45901918 chr11:45901909-45901917 chr11:45901907-45901919
3	POLR2A	chr11:45903260-45903938	GM12878	blood:	n/a	n/a
4	REST	chr11:45903488-45904174	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr11:45902795-45903801	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:45902825-45907143	K562	blood:	n/a	n/a
7	POLR2A	chr11:45903138-45903810	Hela-S3	cervix:	n/a	n/a
8	MAFK	chr11:45903437-45903613	HepG2	liver:	n/a	n/a
9	MXI1	chr11:45901545-45903920	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45869749..45872196-chr11:45903148..45905376,2	K562	blood:
2	chr11:45902565..45904520-chr11:45956645..45959558,2	K562	blood:
3	chr11:45900407..45904392-chr11:45936067..45939613,4	K562	blood:
4	chr11:45896206..45898084-chr11:45902278..45904901,2	MCF-7	breast:

Variant related genes	Relation type
MAPK8IP1	TF binding region
ENSG00000121680	Chromatin interaction
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10838524	0.81[CHD][hapmap]
rs11038699	0.82[CEU][hapmap]
rs11605924	0.81[CHD][hapmap]
rs7121611	0.81[CHD][hapmap]
rs7123390	0.81[TSI][hapmap]
rs7945565	0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2292910	MADD	cis	parietal	SCAN
rs2292910	OR4C45	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45874200-45904200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr11:45875200-45905600	Strong transcription	Primary T cells from cord blood	blood
3	chr11:45875800-45904200	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr11:45876400-45904200	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:45876800-45904600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:45877400-45903800	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr11:45877400-45904200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:45880200-45904600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:45880400-45904200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:45880600-45904600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:45881200-45905200	Strong transcription	Fetal Intestine Large	intestine
12	chr11:45882000-45904800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr11:45882600-45905200	Strong transcription	Liver	Liver
14	chr11:45883800-45905000	Strong transcription	Placenta	Placenta
15	chr11:45885800-45906400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:45886800-45904000	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr11:45893000-45906800	Weak transcription	HSMM	muscle
18	chr11:45893200-45906600	Weak transcription	Small Intestine	intestine
19	chr11:45894000-45904400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:45895000-45907200	Weak transcription	HUVEC	blood vessel
21	chr11:45895400-45906800	Weak transcription	NH-A	brain
22	chr11:45896400-45904200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:45896600-45904600	Strong transcription	Fetal Brain Female	brain
24	chr11:45897800-45904000	Strong transcription	Dnd41	blood
25	chr11:45898400-45903800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:45898600-45906200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:45898600-45906600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:45898600-45906800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:45898600-45906800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:45898800-45906400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:45898800-45906800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:45898800-45907200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:45899400-45906600	Weak transcription	GM12878-XiMat	blood
34	chr11:45899800-45906600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:45900200-45904600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:45900200-45906800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:45900400-45906600	Weak transcription	HepG2	liver
38	chr11:45901000-45904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:45901000-45904400	Strong transcription	Primary B cells from cord blood	blood
40	chr11:45901000-45904400	Strong transcription	Fetal Thymus	thymus
41	chr11:45901000-45904600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:45901000-45904600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:45901000-45904600	Strong transcription	Spleen	Spleen
44	chr11:45901000-45904800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr11:45901000-45905000	Strong transcription	Brain Germinal Matrix	brain
46	chr11:45901000-45905400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:45901200-45903800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:45901400-45904000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:45901400-45904200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:45901400-45904600	Strong transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links