Variant report

Variant	rs7293171
Chromosome Location	chr22:31802324-31802325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31793912..31796805-chr22:31801570..31803117,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185721	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1001599	0.92[EUR][1000 genomes]
rs13054220	0.81[EUR][1000 genomes]
rs13057504	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2273249	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2273251	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2899164	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34545960	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4603880	0.85[EUR][1000 genomes]
rs5749265	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5749267	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5749268	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5749270	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5753597	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5753601	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5753609	0.92[EUR][1000 genomes]
rs5753610	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5753612	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5753613	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5753615	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5753618	0.80[AMR][1000 genomes]
rs5753621	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5753623	0.80[AMR][1000 genomes]
rs5753628	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5753631	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5753648	0.80[AMR][1000 genomes]
rs5753659	0.80[AMR][1000 genomes]
rs5994394	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5997969	0.83[EUR][1000 genomes]
rs714909	0.85[EUR][1000 genomes]
rs7285619	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7287267	0.85[EUR][1000 genomes]
rs738657	0.81[EUR][1000 genomes]
rs8138596	0.89[EUR][1000 genomes]
rs8139625	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8141150	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8142121	0.80[AMR][1000 genomes]
rs9606830	0.83[EUR][1000 genomes]
rs9606831	0.85[EUR][1000 genomes]
rs9606839	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9606843	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9609254	0.82[EUR][1000 genomes]
rs9609257	0.81[EUR][1000 genomes]
rs9609264	0.84[EUR][1000 genomes]
rs9609265	0.85[EUR][1000 genomes]
rs9609266	0.83[EUR][1000 genomes]
rs9609267	0.85[EUR][1000 genomes]
rs9609268	0.88[EUR][1000 genomes]
rs9609276	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9609277	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9609286	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9609295	0.80[AMR][1000 genomes]
rs9609296	0.80[AMR][1000 genomes]
rs9609297	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7293171	DRG1	Cis_1M	lymphoblastoid	RTeQTL
rs7293171	SFI1	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31796400-31803000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:31796600-31821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:31796600-31830000	Weak transcription	Stomach Mucosa	stomach
4	chr22:31796800-31802600	Weak transcription	Brain Substantia Nigra	brain
5	chr22:31796800-31803000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:31796800-31803000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr22:31796800-31804400	Weak transcription	Colonic Mucosa	Colon
8	chr22:31796800-31805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:31796800-31806600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:31796800-31807000	Weak transcription	Fetal Kidney	kidney
11	chr22:31796800-31807000	Weak transcription	A549	lung
12	chr22:31796800-31815800	Weak transcription	Psoas Muscle	Psoas
13	chr22:31796800-31822400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr22:31796800-31835600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:31797000-31807000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr22:31797000-31812800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr22:31797000-31832000	Strong transcription	Fetal Muscle Leg	muscle
18	chr22:31797000-31836600	Strong transcription	Placenta	Placenta
19	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:31797200-31802800	Weak transcription	Fetal Heart	heart
22	chr22:31797200-31803200	Weak transcription	Hela-S3	cervix
23	chr22:31797200-31803600	Strong transcription	NHEK	skin
24	chr22:31797200-31812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:31797200-31812800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr22:31797200-31814000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr22:31797200-31817000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr22:31797200-31826800	Strong transcription	Liver	Liver
29	chr22:31797200-31832600	Strong transcription	Fetal Intestine Small	intestine
30	chr22:31797200-31845400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr22:31797200-31846200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr22:31797200-31846400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:31797200-31860600	Strong transcription	Fetal Stomach	stomach
34	chr22:31797400-31809200	Weak transcription	Pancreas	Pancrea
35	chr22:31797400-31812800	Strong transcription	Fetal Thymus	thymus
36	chr22:31797400-31813000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:31797400-31813000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr22:31797400-31821200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr22:31797400-31846800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr22:31797600-31803200	Weak transcription	Gastric	stomach
41	chr22:31797600-31803600	Strong transcription	Fetal Intestine Large	intestine
42	chr22:31797600-31806000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr22:31797600-31812400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:31797600-31812800	Strong transcription	Adipose Nuclei	Adipose
45	chr22:31797600-31813000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr22:31797600-31813000	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr22:31797600-31828000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:31797600-31835800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr22:31797800-31803200	Weak transcription	Esophagus	oesophagus
50	chr22:31797800-31812600	Strong transcription	Osteobl	bone

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