Variant report

Variant	rs967829
Chromosome Location	chr11:47520753-47520754
allele	A/G
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	SPI1	chr11:47520708-47521130	HL-60	blood:	n/a	n/a
2	SPI1	chr11:47520712-47521398	HL-60	blood:	n/a	n/a
3	FOXA1	chr11:47520645-47520917	T-47D	breast:	n/a	n/a
4	FOXA1	chr11:47520674-47520857	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47508773..47510802-chr11:47519737..47522301,2	MCF-7	breast:
2	chr11:47519377..47521750-chr11:47574004..47575986,3	MCF-7	breast:

Variant related genes	Relation type
CELF1	TF binding region
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10160313	1.00[AFR][1000 genomes]
rs1040199	1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs10742808	1.00[MKK][hapmap]
rs10769273	1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs2233358	1.00[AFR][1000 genomes]
rs35920762	1.00[AFR][1000 genomes]
rs4752841	1.00[MKK][hapmap]
rs6485757	1.00[AFR][1000 genomes]
rs7116487	1.00[AFR][1000 genomes]
rs7118918	1.00[AFR][1000 genomes]
rs7121406	0.83[AFR][1000 genomes]
rs7932169	1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs7933674	1.00[AFR][1000 genomes]
rs7940413	1.00[AFR][1000 genomes]
rs9666418	1.00[AFR][1000 genomes]

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	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47489200-47522800	Strong transcription	Fetal Thymus	thymus
2	chr11:47505600-47521600	Weak transcription	Fetal Brain Male	brain
3	chr11:47506400-47521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47507000-47528200	Weak transcription	Small Intestine	intestine
5	chr11:47507200-47522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:47508400-47530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:47508800-47521200	Weak transcription	Spleen	Spleen
8	chr11:47508800-47521600	Weak transcription	Fetal Brain Female	brain
9	chr11:47509000-47521200	Weak transcription	Lung	lung
10	chr11:47509000-47534400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:47509200-47521200	Weak transcription	Brain Germinal Matrix	brain
12	chr11:47509200-47530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:47510000-47521200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:47510200-47521000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:47510200-47536800	Weak transcription	Fetal Kidney	kidney
16	chr11:47510800-47529800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:47511000-47525000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:47511200-47528600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:47513000-47525000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:47513200-47523000	Strong transcription	Dnd41	blood
21	chr11:47513400-47521800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr11:47513400-47528400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:47513600-47521200	Strong transcription	Primary T cells from cord blood	blood
24	chr11:47513800-47523000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:47514400-47522800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr11:47514800-47521000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:47515600-47528200	Weak transcription	NH-A	brain
28	chr11:47516000-47521200	Weak transcription	Fetal Lung	lung
29	chr11:47516400-47523000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:47516800-47521000	Enhancers	Psoas Muscle	Psoas
31	chr11:47516800-47521400	Weak transcription	NHLF	lung
32	chr11:47516800-47522200	Weak transcription	Placenta	Placenta
33	chr11:47516800-47523000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:47516800-47530200	Weak transcription	Colonic Mucosa	Colon
35	chr11:47517200-47523000	Enhancers	Fetal Heart	heart
36	chr11:47517400-47521200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:47517400-47521600	Enhancers	Aorta	Aorta
38	chr11:47517400-47523400	Strong transcription	NHEK	skin
39	chr11:47517600-47521200	Weak transcription	HUVEC	blood vessel
40	chr11:47517600-47523800	Enhancers	Colon Smooth Muscle	Colon
41	chr11:47517800-47521000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:47517800-47521200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:47517800-47521800	Flanking Active TSS	Liver	Liver
44	chr11:47518000-47521000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:47518000-47521000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr11:47518000-47521000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:47518000-47521000	Genic enhancers	GM12878-XiMat	blood
48	chr11:47518000-47522200	Weak transcription	Osteobl	bone
49	chr11:47518200-47521000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:47518200-47521200	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links