Variant report

Variant	rs7041425
Chromosome Location	chr9:94540436-94540437
allele	A/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	CEBPB	chr9:94540387-94540564	Hela-S3	cervix:	n/a	chr9:94540509-94540520 chr9:94540508-94540521
2	CEBPB	chr9:94539302-94540685	IMR90	lung:	n/a	chr9:94540509-94540520 chr9:94540508-94540521 chr9:94539892-94539903
3	MAX	chr9:94540416-94540616	NB4	blood:	n/a	chr9:94540532-94540545 chr9:94540534-94540544 chr9:94540525-94540541 chr9:94540533-94540544 chr9:94540530-94540545 chr9:94540533-94540543 chr9:94540532-94540547 chr9:94540534-94540543 chr9:94540532-94540545 chr9:94540533-94540544
4	CEBPB	chr9:94540406-94540598	K562	blood:	n/a	chr9:94540509-94540520 chr9:94540508-94540521

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94538454..94541185-chr9:94545334..94547122,2	K562	blood:
2	chr9:94537581..94539213-chr9:94539659..94541309,2	MCF-7	breast:

Variant related genes	Relation type
ROR2	TF binding region
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10992081	0.86[ASN][1000 genomes]
rs10992082	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10992091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992094	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10992096	1.00[ASN][1000 genomes]
rs10992097	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992099	0.88[ASN][1000 genomes]
rs10992105	0.82[ASN][1000 genomes]
rs1406201	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2312731	0.82[ASN][1000 genomes]
rs34466526	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4237216	0.82[ASN][1000 genomes]
rs7025400	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029673	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71494476	0.85[AFR][1000 genomes]
rs72744489	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73651504	0.85[AFR][1000 genomes]
rs7860482	0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs7862819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7863557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7872865	0.84[AFR][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	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94533000-94542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:94533000-94543600	Weak transcription	Right Atrium	heart
3	chr9:94533400-94549600	Weak transcription	Colonic Mucosa	Colon
4	chr9:94533600-94545400	Enhancers	Stomach Smooth Muscle	stomach
5	chr9:94534400-94546800	Weak transcription	Fetal Kidney	kidney
6	chr9:94536000-94543200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:94536000-94543600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:94536200-94544600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:94537000-94543400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:94537800-94541000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:94537800-94543400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:94537800-94545000	Weak transcription	Fetal Intestine Small	intestine
13	chr9:94537800-94546000	Weak transcription	Gastric	stomach
14	chr9:94538000-94540600	Enhancers	NHLF	lung
15	chr9:94538000-94541000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:94538000-94548800	Weak transcription	Esophagus	oesophagus
17	chr9:94538600-94540800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:94538600-94543200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:94538800-94540600	Enhancers	K562	blood
20	chr9:94538800-94540600	Enhancers	NHDF-Ad	bronchial
21	chr9:94538800-94540600	Bivalent Enhancer	Osteobl	bone
22	chr9:94538800-94543400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:94538800-94543400	Weak transcription	Ovary	ovary
24	chr9:94539000-94540800	Enhancers	HSMM	muscle
25	chr9:94539000-94543200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr9:94539200-94543400	Weak transcription	Fetal Heart	heart
27	chr9:94539400-94540800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:94539400-94540800	Enhancers	Fetal Lung	lung
29	chr9:94539400-94543400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr9:94539600-94540600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr9:94539600-94543600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:94539600-94543800	Weak transcription	Fetal Stomach	stomach
33	chr9:94539800-94540600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:94539800-94542600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:94539800-94543400	Weak transcription	Colon Smooth Muscle	Colon
36	chr9:94540200-94540600	Enhancers	Lung	lung
37	chr9:94540200-94540600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr9:94540200-94540800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr9:94540400-94540600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr9:94540400-94540800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:94540400-94540800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:94540400-94540800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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