Variant report

Variant	rs73013435
Chromosome Location	chr2:171990300-171990301
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	chr2:171910929..171912493-chr2:171987533..171990512,2	K562	blood:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10173931	0.92[EUR][1000 genomes]
rs1025241	0.83[AFR][1000 genomes]
rs10490606	0.85[AMR][1000 genomes]
rs13389859	1.00[EUR][1000 genomes]
rs16823191	0.81[AMR][1000 genomes]
rs16859087	0.92[EUR][1000 genomes]
rs16859121	0.92[EUR][1000 genomes]
rs16859167	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16859176	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859177	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2356600	0.98[EUR][1000 genomes]
rs2356609	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723245	0.92[EUR][1000 genomes]
rs2723248	0.92[EUR][1000 genomes]
rs2723250	0.90[EUR][1000 genomes]
rs2883940	0.90[EUR][1000 genomes]
rs34518725	0.84[AFR][1000 genomes]
rs3770423	0.82[AFR][1000 genomes]
rs55644524	0.98[EUR][1000 genomes]
rs55885449	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55939429	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55995602	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55997598	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56004444	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56134465	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56155163	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56155601	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56191582	0.90[EUR][1000 genomes]
rs56308745	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56382502	1.00[EUR][1000 genomes]
rs56934523	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57173242	0.81[AMR][1000 genomes]
rs57733560	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58028937	0.81[EUR][1000 genomes]
rs58307585	0.81[AMR][1000 genomes]
rs58685348	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59841744	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60396936	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60730419	0.84[EUR][1000 genomes]
rs6711423	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6722196	0.92[EUR][1000 genomes]
rs6722537	0.83[AFR][1000 genomes]
rs6734542	0.81[AFR][1000 genomes]
rs6736045	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6746133	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6750585	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73013436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73013439	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73013453	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73013465	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73017249	0.84[EUR][1000 genomes]
rs73027220	0.92[EUR][1000 genomes]
rs73029214	1.00[EUR][1000 genomes]
rs73976125	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73976285	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585418	0.81[AFR][1000 genomes]
rs7591214	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603340	0.82[AFR][1000 genomes]
rs9752051	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:171950600-171991200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:171957200-172010400	Weak transcription	HSMM	muscle
4	chr2:171971200-171993000	Weak transcription	Gastric	stomach
5	chr2:171973600-172011000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:171973800-171990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:171974000-171990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:171974000-171996400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:171974000-172003200	Weak transcription	Fetal Intestine Small	intestine
10	chr2:171974000-172003200	Weak transcription	Fetal Thymus	thymus
11	chr2:171974200-171993600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:171974200-171996400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:171974200-172002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:171974400-171992400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:171974400-172003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:171976000-171990400	Weak transcription	Aorta	Aorta
17	chr2:171976400-171993400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:171979000-171990400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:171982000-171991600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:171982000-171993400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:171982200-171993000	Weak transcription	Small Intestine	intestine
22	chr2:171984600-172003000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:171985600-172006200	Weak transcription	Esophagus	oesophagus
24	chr2:171986000-171990400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:171986200-171990400	Weak transcription	Primary B cells from cord blood	blood
26	chr2:171986200-171990400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:171986400-171995800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:171986400-171996400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:171987200-171993000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:171987400-171993400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:171987400-171999400	Weak transcription	Spleen	Spleen
32	chr2:171987600-171993000	Weak transcription	Stomach Mucosa	stomach
33	chr2:171988000-171990400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:171988000-171991600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:171988200-172014400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:171988400-171999800	Enhancers	HepG2	liver
37	chr2:171988600-171990400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:171988600-171990800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:171988600-171990800	Enhancers	Pancreas	Pancrea
40	chr2:171988600-171990800	Enhancers	Psoas Muscle	Psoas
41	chr2:171988800-171990600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:171988800-171991200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:171989000-171991800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:171989200-171991200	Enhancers	K562	blood
45	chr2:171989200-171996600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:171989400-171991200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:171989400-171991200	Weak transcription	A549	lung
48	chr2:171989400-171991600	Enhancers	Liver	Liver
49	chr2:171989400-171993400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:171989400-171994000	Weak transcription	Colon Smooth Muscle	Colon

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