Variant report

Variant	rs9619187
Chromosome Location	chr22:31693585-31693586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31692068..31693846-chr22:31738444..31740221,2	MCF-7	breast:
2	chr22:31687537..31690169-chr22:31691926..31695310,3	K562	blood:
3	chr22:31689960..31693778-chr22:31698735..31700616,3	MCF-7	breast:
4	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
5	chr22:31678127..31679737-chr22:31693354..31695719,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100100	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11703927	0.95[EUR][1000 genomes]
rs12166373	0.99[EUR][1000 genomes]
rs12167361	0.99[EUR][1000 genomes]
rs13056815	0.86[EUR][1000 genomes]
rs13057841	0.83[EUR][1000 genomes]
rs131200	0.96[EUR][1000 genomes]
rs131202	0.95[EUR][1000 genomes]
rs131209	0.94[EUR][1000 genomes]
rs131213	0.89[EUR][1000 genomes]
rs131219	0.88[EUR][1000 genomes]
rs140074	0.94[EUR][1000 genomes]
rs140077	0.92[EUR][1000 genomes]
rs2009132	0.95[EUR][1000 genomes]
rs2013254	0.98[EUR][1000 genomes]
rs2413048	0.95[EUR][1000 genomes]
rs28523714	0.83[EUR][1000 genomes]
rs28715	0.94[EUR][1000 genomes]
rs28716	0.93[EUR][1000 genomes]
rs28813120	0.92[EUR][1000 genomes]
rs34873968	0.83[EUR][1000 genomes]
rs4820045	0.85[EUR][1000 genomes]
rs4820961	0.96[EUR][1000 genomes]
rs4820969	0.88[EUR][1000 genomes]
rs5753558	0.93[EUR][1000 genomes]
rs5753576	0.88[EUR][1000 genomes]
rs5997900	0.82[EUR][1000 genomes]
rs5997909	0.90[EUR][1000 genomes]
rs5997919	0.92[EUR][1000 genomes]
rs5997929	0.96[EUR][1000 genomes]
rs5997932	0.95[EUR][1000 genomes]
rs5997938	0.96[EUR][1000 genomes]
rs5997960	0.94[EUR][1000 genomes]
rs5997971	0.80[EUR][1000 genomes]
rs713947	0.93[EUR][1000 genomes]
rs7285171	0.91[EUR][1000 genomes]
rs7287402	0.96[EUR][1000 genomes]
rs7288643	0.96[EUR][1000 genomes]
rs7288735	0.96[EUR][1000 genomes]
rs7289189	0.96[EUR][1000 genomes]
rs7289337	0.96[EUR][1000 genomes]
rs739427	0.96[EUR][1000 genomes]
rs8141987	0.88[EUR][1000 genomes]
rs8143002	0.89[EUR][1000 genomes]
rs9606835	0.86[EUR][1000 genomes]
rs9621216	0.90[EUR][1000 genomes]
rs9621221	0.92[EUR][1000 genomes]
rs9621227	0.95[EUR][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	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9619187	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31689000-31696400	Weak transcription	HepG2	liver
2	chr22:31689200-31696400	Weak transcription	Liver	Liver
3	chr22:31689200-31696400	Weak transcription	Right Atrium	heart
4	chr22:31689400-31709000	Weak transcription	Placenta	Placenta
5	chr22:31689800-31695600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:31690200-31704200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr22:31691400-31693600	Enhancers	Fetal Intestine Small	intestine
8	chr22:31691400-31694200	Enhancers	Fetal Intestine Large	intestine
9	chr22:31691400-31694200	Weak transcription	Ovary	ovary
10	chr22:31691600-31694000	Enhancers	HSMMtube	muscle
11	chr22:31691800-31693600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:31692200-31693800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:31692600-31693800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:31692600-31709200	Weak transcription	Stomach Mucosa	stomach
15	chr22:31692800-31693800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr22:31692800-31694200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr22:31692800-31697800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr22:31692800-31698400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr22:31693000-31693600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr22:31693000-31693800	Enhancers	Small Intestine	intestine
21	chr22:31693000-31694400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr22:31693000-31694600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr22:31693000-31696200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:31693000-31697800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr22:31693200-31694200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr22:31693200-31694800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr22:31693200-31695600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr22:31693200-31696200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr22:31693200-31696400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr22:31693200-31697200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:31693400-31693600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr22:31693400-31693800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr22:31693400-31695000	Weak transcription	Primary T cells from cord blood	blood
34	chr22:31693400-31696000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr22:31693400-31696200	Weak transcription	Adipose Nuclei	Adipose
36	chr22:31693400-31696400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr22:31693400-31696400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr22:31693400-31697000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr22:31693400-31700800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:31693400-31702400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr22:31693400-31709200	Weak transcription	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links