Variant report

Variant	rs11252641
Chromosome Location	chr10:4694022-4694023
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	JUND	chr10:4693745-4694188	HCT-116	colon:	n/a	chr10:4693967-4693976 chr10:4693966-4693977 chr10:4693968-4693977
2	FOS	chr10:4693796-4694131	MCF10A-Er-Src	breast:	n/a	chr10:4693967-4693976 chr10:4693966-4693977 chr10:4693968-4693977
3	FOS	chr10:4693791-4694152	MCF10A-Er-Src	breast:	n/a	chr10:4693967-4693976 chr10:4693966-4693977 chr10:4693968-4693977
4	KAP1	chr10:4693719-4694908	HEK293	kidney:	n/a	chr10:4694579-4694588
5	FOSL1	chr10:4693663-4694290	HCT-116	colon:	n/a	chr10:4693967-4693976 chr10:4693968-4693977
6	FOS	chr10:4693838-4694087	HUVEC	blood vessel:	n/a	chr10:4693967-4693976 chr10:4693966-4693977 chr10:4693968-4693977
7	POLR2A	chr10:4693530-4694102	H1-neurons	neurons:	n/a	n/a
8	FOSL1	chr10:4693776-4694264	HCT-116	colon:	n/a	chr10:4693967-4693976 chr10:4693968-4693977
9	FOS	chr10:4693791-4694154	MCF10A-Er-Src	breast:	n/a	chr10:4693967-4693976 chr10:4693966-4693977 chr10:4693968-4693977
10	JUND	chr10:4693717-4694299	HCT-116	colon:	n/a	chr10:4693967-4693976 chr10:4693966-4693977 chr10:4693968-4693977
11	FOS	chr10:4693791-4694136	MCF10A-Er-Src	breast:	n/a	chr10:4693967-4693976 chr10:4693966-4693977 chr10:4693968-4693977
12	JUND	chr10:4693902-4694072	HepG2	liver:	n/a	chr10:4693967-4693976 chr10:4693966-4693977 chr10:4693968-4693977
13	STAT3	chr10:4693908-4694108	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:3827665..3830468-chr10:4693096..4697578,6	MCF-7	breast:
2	chr10:4692495..4696289-chr10:4704356..4708036,4	MCF-7	breast:
3	chr10:4691378..4694078-chr10:4702195..4704638,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1E2-8	chr10:4693891-4694611	NONHSAT011105

Variant related genes	Relation type
LINC00705	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1025921	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10444199	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10508286	0.85[JPT][hapmap];0.96[YRI][hapmap];0.92[ASN][1000 genomes]
rs10795195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10904310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904312	0.89[ASN][1000 genomes]
rs10904313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10904316	0.97[ASN][1000 genomes]
rs11252642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11252646	0.88[ASN][1000 genomes]
rs11252648	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs11252653	0.98[ASN][1000 genomes]
rs12780788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12782668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1498270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs167511	1.00[CHB][hapmap]
rs1838239	0.86[YRI][hapmap]
rs2083873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2088500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2123352	0.82[JPT][hapmap]
rs2165953	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2165955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173368	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2647337	1.00[CHB][hapmap]
rs313450	1.00[CHB][hapmap]
rs313452	1.00[CHB][hapmap]
rs313453	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv1798456	chr10:4689138-4731081	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1817443	chr10:4689138-4731081	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1831014	chr10:4689138-4731081	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1838419	chr10:4689138-4731081	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1805926	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1809203	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1840346	chr10:4689842-4720626	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1842933	chr10:4689842-4720626	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1848476	chr10:4689842-4720626	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4680600-4694200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr10:4680600-4703800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:4688800-4694800	Enhancers	Dnd41	blood
4	chr10:4689400-4694800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr10:4690000-4697200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr10:4691600-4694600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:4692200-4694800	Enhancers	NHDF-Ad	bronchial
8	chr10:4692200-4694800	Enhancers	NHLF	lung
9	chr10:4692400-4694400	Genic enhancers	HUVEC	blood vessel
10	chr10:4692400-4694800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:4692600-4695600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr10:4692800-4694600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr10:4693000-4694200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:4693000-4694200	Weak transcription	Stomach Mucosa	stomach
15	chr10:4693000-4695400	Weak transcription	Fetal Kidney	kidney
16	chr10:4693000-4703000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr10:4693000-4703600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:4693000-4703600	Weak transcription	Right Atrium	heart
19	chr10:4693200-4694200	Weak transcription	Esophagus	oesophagus
20	chr10:4693200-4694200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr10:4693200-4694200	Weak transcription	Left Ventricle	heart
22	chr10:4693200-4695400	Weak transcription	Lung	lung
23	chr10:4693200-4697200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:4693200-4697200	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:4693200-4697200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:4693200-4697400	Weak transcription	Osteobl	bone
27	chr10:4693200-4697600	Weak transcription	Adipose Nuclei	Adipose
28	chr10:4693200-4699000	Weak transcription	HSMM	muscle
29	chr10:4693200-4702400	Weak transcription	Psoas Muscle	Psoas
30	chr10:4693200-4702400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr10:4693200-4703000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:4693200-4703000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr10:4693200-4703800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:4693200-4703800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:4693200-4703800	Weak transcription	Pancreas	Pancrea
36	chr10:4693400-4694200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:4693400-4694200	Weak transcription	Gastric	stomach
38	chr10:4693400-4698400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr10:4693800-4694800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr10:4693800-4695000	Genic enhancers	NHEK	skin
41	chr10:4694000-4694600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr10:4694000-4695000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr10:4694000-4695000	Enhancers	HMEC	breast

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