Variant report

Variant	rs7863557
Chromosome Location	chr9:94538115-94538116
allele	C/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	RAD21	chr9:94537332-94539151	SK-N-SH	brain:	n/a	chr9:94537897-94537916 chr9:94538475-94538494 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94538235-94538254 chr9:94537900-94537913
2	RAD21	chr9:94537668-94538149	IMR90	lung:	n/a	chr9:94537897-94537916 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94537900-94537913
3	TEAD4	chr9:94537684-94538121	A549	lung:	n/a	n/a
4	RAD21	chr9:94537614-94538261	MCF-7	breast:	n/a	chr9:94537897-94537916 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94538235-94538254 chr9:94537900-94537913
5	CTCF	chr9:94537692-94538145	GM12878	blood:	n/a	chr9:94537899-94537912 chr9:94537901-94537911 chr9:94537897-94537913 chr9:94537896-94537914 chr9:94537899-94537908 chr9:94537898-94537919
6	RAD21	chr9:94537632-94538176	A549	lung:	n/a	chr9:94537897-94537916 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94537900-94537913
7	RAD21	chr9:94537595-94538223	H1-hESC	embryonic stem cell:	n/a	chr9:94537897-94537916 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94537900-94537913
8	CTCF	chr9:94537683-94538124	IMR90	lung:	n/a	chr9:94537899-94537912 chr9:94537901-94537911 chr9:94537897-94537913 chr9:94537896-94537914 chr9:94537899-94537908 chr9:94537898-94537919
9	CTCF	chr9:94537631-94538118	A549	lung:	n/a	chr9:94537899-94537912 chr9:94537901-94537911 chr9:94537897-94537913 chr9:94537896-94537914 chr9:94537899-94537908 chr9:94537898-94537919
10	SMC3	chr9:94537473-94538676	SK-N-SH	brain:	n/a	chr9:94537898-94537906 chr9:94537898-94537912 chr9:94537902-94537912
11	MAZ	chr9:94537657-94538276	IMR90	lung:	n/a	n/a
12	TEAD4	chr9:94537708-94538133	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr9:94537620-94538136	H1-hESC	embryonic stem cell:	n/a	chr9:94537781-94537789
14	CTCF	chr9:94537758-94538150	MCF-7	breast:	n/a	chr9:94537899-94537912 chr9:94537901-94537911 chr9:94537897-94537913 chr9:94537896-94537914 chr9:94537899-94537908 chr9:94537898-94537919
15	MYC	chr9:94537711-94538265	A549	lung:	n/a	n/a
16	RAD21	chr9:94537680-94538138	H1-hESC	embryonic stem cell:	n/a	chr9:94537897-94537916 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94537900-94537913
17	CTCF	chr9:94537643-94538308	A549	lung:	n/a	chr9:94537899-94537912 chr9:94537901-94537911 chr9:94537897-94537913 chr9:94537896-94537914 chr9:94537899-94537908 chr9:94537898-94537919
18	RAD21	chr9:94537614-94538136	H1-hESC	embryonic stem cell:	n/a	chr9:94537897-94537916 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94537900-94537913
19	CTCF	chr9:94537516-94538445	HCT-116	colon:	n/a	chr9:94537899-94537912 chr9:94537901-94537911 chr9:94537897-94537913 chr9:94537896-94537914 chr9:94537899-94537908 chr9:94537898-94537919
20	CTCF	chr9:94537177-94538312	SK-N-SH	brain:	n/a	chr9:94537899-94537912 chr9:94537901-94537911 chr9:94537897-94537913 chr9:94537896-94537914 chr9:94537899-94537908 chr9:94537898-94537919
21	HDAC2	chr9:94537661-94538170	MCF-7	breast:	n/a	n/a
22	RAD21	chr9:94537644-94538197	MCF-7	breast:	n/a	chr9:94537897-94537916 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94537900-94537913
23	RAD21	chr9:94537691-94538161	SK-N-SH_RA	brain:	n/a	chr9:94537897-94537916 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94537900-94537913
24	SMC3	chr9:94537713-94538127	Hela-S3	cervix:	n/a	chr9:94537898-94537906 chr9:94537898-94537912 chr9:94537902-94537912
25	RAD21	chr9:94537615-94538161	A549	lung:	n/a	chr9:94537897-94537916 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94537900-94537913
26	MAX	chr9:94537928-94538156	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr9:94537521-94538297	HCT-116	colon:	n/a	chr9:94537897-94537916 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94538235-94538254 chr9:94537900-94537913
28	RAD21	chr9:94537672-94538229	ECC-1	luminal epithelium:	n/a	chr9:94537897-94537916 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94537900-94537913
29	RAD21	chr9:94537524-94538252	HCT-116	colon:	n/a	chr9:94537897-94537916 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94537900-94537913
30	RAD21	chr9:94537631-94538140	ECC-1	luminal epithelium:	n/a	chr9:94537897-94537916 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94537900-94537913
31	RAD21	chr9:94537604-94538121	HepG2	liver:	n/a	chr9:94537897-94537916 chr9:94537902-94537914 chr9:94537902-94537912 chr9:94537900-94537913
32	SMC3	chr9:94537709-94538119	K562	blood:	n/a	chr9:94537898-94537906 chr9:94537898-94537912 chr9:94537902-94537912
33	CTCF	chr9:94537556-94538218	MCF-7	breast:	n/a	chr9:94537899-94537912 chr9:94537901-94537911 chr9:94537897-94537913 chr9:94537896-94537914 chr9:94537899-94537908 chr9:94537898-94537919

No.	Distal block	Cell Line	Cell type
1	chr9:94537481..94538450-chr9:94712230..94712819,2	MCF-7	breast:
2	chr9:94537447..94538880-chr9:94712081..94713098,9	MCF-7	breast:
3	chr9:94537694..94538378-chr9:94712239..94713033,2	K562	blood:
4	chr10:131265189..131266009-chr9:94537721..94538470,2	HCT-116	colon:

Variant related genes	Relation type
ROR2	TF binding region
ENSG00000170430	Chromatin interaction
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[CEU][hapmap];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]
rs10992092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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[CEU][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[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	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4237216	0.82[ASN][1000 genomes]
rs7025400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029809	1.00[CEU][hapmap];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]
rs7041425	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]
rs71494476	0.87[AFR][1000 genomes]
rs72744489	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73651504	0.87[AFR][1000 genomes]
rs7860482	0.87[AFR][1000 genomes]
rs7862819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7872865	0.86[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94527600-94538800	Weak transcription	K562	blood
2	chr9:94529400-94539800	Enhancers	Colon Smooth Muscle	Colon
3	chr9:94532200-94539200	Enhancers	Fetal Heart	heart
4	chr9:94533000-94542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:94533000-94543600	Weak transcription	Right Atrium	heart
6	chr9:94533400-94549600	Weak transcription	Colonic Mucosa	Colon
7	chr9:94533600-94545400	Enhancers	Stomach Smooth Muscle	stomach
8	chr9:94534200-94538200	Genic enhancers	Fetal Stomach	stomach
9	chr9:94534400-94546800	Weak transcription	Fetal Kidney	kidney
10	chr9:94534600-94538800	Weak transcription	Spleen	Spleen
11	chr9:94534600-94539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:94535000-94538600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:94535000-94539400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:94536000-94543200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:94536000-94543600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr9:94536200-94544600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:94536400-94538400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:94536600-94538800	Weak transcription	Placenta	Placenta
19	chr9:94537000-94543400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:94537200-94539800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr9:94537400-94538200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr9:94537600-94538200	Enhancers	Fetal Intestine Large	intestine
23	chr9:94537600-94538200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr9:94537600-94538200	Enhancers	Ovary	ovary
25	chr9:94537600-94538600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:94537600-94538800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr9:94537600-94538800	Enhancers	Fetal Lung	lung
28	chr9:94537600-94539600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:94537800-94538200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:94537800-94538200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr9:94537800-94538200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr9:94537800-94538800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:94537800-94541000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:94537800-94543400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:94537800-94545000	Weak transcription	Fetal Intestine Small	intestine
36	chr9:94537800-94546000	Weak transcription	Gastric	stomach
37	chr9:94538000-94538200	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr9:94538000-94538600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr9:94538000-94538800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:94538000-94538800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:94538000-94539400	Enhancers	Rectal Smooth Muscle	rectum
42	chr9:94538000-94540400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:94538000-94540400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:94538000-94540600	Enhancers	NHLF	lung
45	chr9:94538000-94541000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr9:94538000-94548800	Weak transcription	Esophagus	oesophagus

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