Variant report

Variant	rs7112381
Chromosome Location	chr11:47866991-47866992
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	chr11:47866855-47867635	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:47866958-47867531	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47662847..47665606-chr11:47864440..47867205,2	K562	blood:
2	chr11:47866017..47867576-chr11:47868325..47870238,2	MCF-7	breast:
3	chr11:47663732..47665818-chr11:47865617..47868186,2	K562	blood:
4	chr11:47659007..47661104-chr11:47865569..47867321,2	K562	blood:

Variant related genes	Relation type
NUP160	TF binding region
ENSG00000030066	Chromatin interaction
ENSG00000109919	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10742819	0.86[AFR][1000 genomes]
rs10769293	0.86[AFR][1000 genomes]
rs10769301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10838756	0.86[AFR][1000 genomes]
rs10838781	0.88[AFR][1000 genomes]
rs10838785	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039437	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1459988	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2869542	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4500446	0.95[AFR][1000 genomes]
rs4519055	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4752863	0.83[AFR][1000 genomes]
rs4752868	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4752874	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4752876	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485790	0.89[AFR][1000 genomes]
rs6485791	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7107116	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7130715	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7936734	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945233	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945302	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
4	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1049835	chr11:47837089-47928822	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv541036	chr11:47837089-47928822	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47790200-47869200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47795400-47868400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:47796200-47867400	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr11:47796200-47868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:47796200-47868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:47796200-47868400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:47796200-47868400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:47796200-47868600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:47796400-47867600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:47796600-47868600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:47798000-47868000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:47831800-47868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:47846600-47867000	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:47847000-47868200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:47847200-47867400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr11:47847600-47868000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:47847600-47868800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr11:47848200-47867200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:47850000-47867600	Strong transcription	Primary B cells from cord blood	blood
20	chr11:47850000-47868400	Strong transcription	Fetal Lung	lung
21	chr11:47850200-47867400	Strong transcription	Primary T cells from cord blood	blood
22	chr11:47850600-47868400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:47851400-47868600	Strong transcription	Placenta	Placenta
24	chr11:47851600-47867400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:47851800-47867600	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr11:47851800-47868000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:47851800-47868000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:47852200-47867600	Strong transcription	Thymus	Thymus
29	chr11:47852400-47867200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:47852400-47868400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:47852400-47868400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:47853000-47868000	Strong transcription	Fetal Intestine Large	intestine
33	chr11:47853000-47868600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr11:47853600-47867200	Strong transcription	Colon Smooth Muscle	Colon
35	chr11:47853600-47867400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:47853600-47868000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:47854000-47867400	Strong transcription	NHDF-Ad	bronchial
38	chr11:47854000-47868600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:47854200-47868600	Strong transcription	HSMM	muscle
40	chr11:47856600-47869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:47859400-47867600	Strong transcription	Liver	Liver
42	chr11:47860800-47868000	Strong transcription	A549	lung
43	chr11:47861000-47867200	Strong transcription	Primary hematopoietic stem cells	blood
44	chr11:47861600-47868400	Weak transcription	HUVEC	blood vessel
45	chr11:47862000-47868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:47862200-47867200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:47862200-47868400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:47862600-47867400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:47862600-47867600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:47862600-47867600	Strong transcription	Fetal Stomach	stomach

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