Variant report

Variant	rs2134690
Chromosome Location	chr1:161763933-161763934
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	chr1:161763869..161766060-chr1:162009738..162011775,2	K562	blood:
2	chr1:161734975..161737709-chr1:161762185..161764116,2	K562	blood:

Variant related genes	Relation type
ENSG00000118217	Chromatin interaction
ENSG00000226889	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10733044	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10737502	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753645	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10753666	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10800068	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1394070	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1553444	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1806594	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2055539	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2134696	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298019	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341468	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2341479	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2499855	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2499856	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2880055	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34312480	0.90[ASN][1000 genomes]
rs34461550	1.00[ASN][1000 genomes]
rs35621393	0.97[ASN][1000 genomes]
rs36080602	0.90[ASN][1000 genomes]
rs3767633	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4233380	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4300199	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4579731	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656335	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656339	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4657103	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427633	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6427639	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6667896	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6685369	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698065	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6701754	1.00[ASN][1000 genomes]
rs71639910	0.89[ASN][1000 genomes]
rs7517386	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7532448	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs924777	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161737000-161765600	Weak transcription	Aorta	Aorta
2	chr1:161737200-161775200	Weak transcription	Fetal Stomach	stomach
3	chr1:161737200-161775800	Weak transcription	Stomach Mucosa	stomach
4	chr1:161737200-161780000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:161737600-161764600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:161738600-161794000	Weak transcription	Pancreas	Pancrea
7	chr1:161738600-161795600	Weak transcription	Gastric	stomach
8	chr1:161742400-161773000	Weak transcription	Small Intestine	intestine
9	chr1:161745400-161780000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:161747600-161773800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:161748000-161778800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:161748200-161780000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:161749000-161777000	Strong transcription	Liver	Liver
14	chr1:161749200-161780000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:161750000-161768200	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:161750600-161774800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:161751800-161773800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:161752200-161773400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr1:161752200-161780000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:161752400-161767800	Strong transcription	Dnd41	blood
21	chr1:161752600-161776000	Weak transcription	Fetal Heart	heart
22	chr1:161753000-161771800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:161753200-161765400	Weak transcription	Brain Angular Gyrus	brain
24	chr1:161753200-161780000	Weak transcription	Esophagus	oesophagus
25	chr1:161753400-161765400	Weak transcription	Lung	lung
26	chr1:161753400-161800600	Weak transcription	Spleen	Spleen
27	chr1:161755000-161793600	Weak transcription	Colonic Mucosa	Colon
28	chr1:161755400-161767000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:161755400-161780000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:161756200-161776800	Strong transcription	Primary B cells from cord blood	blood
31	chr1:161756800-161764400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:161757400-161764200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:161757400-161778400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:161757400-161797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:161759200-161770800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:161759200-161773600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:161759200-161773800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:161759400-161765200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:161759400-161773400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:161759600-161769400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:161759600-161773200	Strong transcription	Adipose Nuclei	Adipose
42	chr1:161759600-161773800	Strong transcription	Primary T cells from cord blood	blood
43	chr1:161759600-161777400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:161760200-161765200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:161760200-161769400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr1:161760200-161773600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:161760400-161772600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:161760400-161780200	Weak transcription	A549	lung
49	chr1:161760600-161764400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:161760800-161765800	Strong transcription	K562	blood

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