Variant report

Variant	rs57688942
Chromosome Location	chr9:94664869-94664870
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94664745..94669992-chr9:94681267..94685780,5	K562	blood:
2	chr9:94663383..94666047-chr9:94676965..94679095,2	K562	blood:
3	chr9:94658208..94667163-chr9:94705322..94714120,17	K562	blood:

Variant related genes	Relation type
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10761137	0.82[EUR][1000 genomes]
rs10820908	0.80[AMR][1000 genomes]
rs10820914	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10820915	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992149	0.83[AMR][1000 genomes]
rs10992151	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10992158	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10992159	0.84[EUR][1000 genomes]
rs11789973	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11792319	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12683797	0.84[AMR][1000 genomes]
rs1609292	0.83[EUR][1000 genomes]
rs1881384	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919102	0.80[EUR][1000 genomes]
rs1919103	0.84[EUR][1000 genomes]
rs2030992	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3905385	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275276	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4347043	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4347044	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4430151	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4517189	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58431919	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59723153	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62565678	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62565679	0.83[EUR][1000 genomes]
rs62565747	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72746246	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57688942	ROR2	cis	Thyroid	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94651200-94665000	Weak transcription	NHLF	lung
2	chr9:94658000-94667400	Enhancers	Fetal Lung	lung
3	chr9:94658200-94666200	Enhancers	Fetal Kidney	kidney
4	chr9:94658400-94665800	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr9:94659200-94665400	Enhancers	Ovary	ovary
6	chr9:94659600-94665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:94659600-94668400	Enhancers	Colon Smooth Muscle	Colon
8	chr9:94660200-94666200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr9:94661200-94666600	Enhancers	Fetal Stomach	stomach
10	chr9:94661600-94665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:94662200-94665200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:94662200-94669400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr9:94662400-94665400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr9:94662400-94665800	Enhancers	Fetal Heart	heart
15	chr9:94662800-94666600	Weak transcription	Colonic Mucosa	Colon
16	chr9:94662800-94668000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:94662800-94668400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:94662800-94668400	Weak transcription	Spleen	Spleen
19	chr9:94663000-94665600	Enhancers	Rectal Smooth Muscle	rectum
20	chr9:94663000-94665800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr9:94663000-94666000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr9:94663000-94667000	Weak transcription	Esophagus	oesophagus
23	chr9:94663000-94668400	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:94663000-94668400	Weak transcription	Right Atrium	heart
25	chr9:94663200-94665000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr9:94663400-94667600	Weak transcription	Fetal Brain Male	brain
27	chr9:94663400-94668400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr9:94663600-94667600	Enhancers	Pancreas	Pancrea
29	chr9:94663600-94668400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr9:94664000-94665400	Enhancers	Fetal Thymus	thymus
31	chr9:94664000-94667800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:94664200-94665200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr9:94664200-94665200	Enhancers	Gastric	stomach
34	chr9:94664200-94665200	Enhancers	Small Intestine	intestine
35	chr9:94664200-94665200	Flanking Active TSS	K562	blood
36	chr9:94664200-94665400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr9:94664200-94665800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:94664200-94665800	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr9:94664200-94666000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:94664200-94666000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:94664200-94666200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr9:94664400-94665200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:94664400-94665400	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr9:94664400-94666200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:94664400-94668200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:94664600-94665000	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr9:94664600-94665000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr9:94664600-94665000	Bivalent Enhancer	HepG2	liver
49	chr9:94664600-94665200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr9:94664600-94665200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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