Variant report

Variant	rs237427
Chromosome Location	chr1:94014320-94014321
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94009722..94011926-chr1:94012283..94014374,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11164950	1.00[EUR][1000 genomes]
rs1593513	0.82[ASN][1000 genomes]
rs1593514	0.82[ASN][1000 genomes]
rs1593515	0.82[ASN][1000 genomes]
rs1863500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs236325	1.00[EUR][1000 genomes]
rs236327	1.00[EUR][1000 genomes]
rs236328	1.00[EUR][1000 genomes]
rs236334	1.00[EUR][1000 genomes]
rs237424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237426	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237428	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237431	0.85[AMR][1000 genomes]
rs2449377	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2493642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2554841	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2624438	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2818968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4475764	0.82[ASN][1000 genomes]
rs57438388	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57440609	0.82[ASN][1000 genomes]
rs57453256	0.82[ASN][1000 genomes]
rs57974365	1.00[EUR][1000 genomes]
rs58430978	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58591926	0.82[ASN][1000 genomes]
rs59039419	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60515224	1.00[EUR][1000 genomes]
rs60717381	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61096581	0.82[ASN][1000 genomes]
rs61231069	0.82[ASN][1000 genomes]
rs6657187	0.82[ASN][1000 genomes]
rs72961357	1.00[EUR][1000 genomes]
rs72961366	1.00[EUR][1000 genomes]
rs72961373	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72961379	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72961386	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72961389	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7547495	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7553492	1.00[EUR][1000 genomes]
rs7554661	1.00[EUR][1000 genomes];0.88[ASN][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	nsv1011853	chr1:93966450-94039005	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93964600-94015200	Weak transcription	Fetal Brain Male	brain
2	chr1:93965000-94017400	Weak transcription	Stomach Mucosa	stomach
3	chr1:93973200-94016800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:93973400-94032000	Weak transcription	Esophagus	oesophagus
5	chr1:93984200-94017400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:93984800-94016000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:93985600-94017600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:93985800-94015200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:93985800-94017800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:93986000-94017600	Weak transcription	NHEK	skin
11	chr1:93987000-94015200	Weak transcription	Ovary	ovary
12	chr1:93992000-94018000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:93992200-94017800	Weak transcription	Gastric	stomach
14	chr1:93992200-94018400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:93995600-94018000	Weak transcription	Primary T cells from cord blood	blood
17	chr1:93997400-94017600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:93997600-94018200	Weak transcription	A549	lung
19	chr1:93997800-94015200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:93997800-94015200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:93998400-94014400	Weak transcription	Fetal Brain Female	brain
22	chr1:94003600-94017600	Weak transcription	NHDF-Ad	bronchial
23	chr1:94004000-94017200	Weak transcription	Osteobl	bone
24	chr1:94004800-94015200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:94005400-94017600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:94006800-94017200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:94006800-94017600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:94007600-94017200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:94007800-94016200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:94007800-94017600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:94008200-94016600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:94008400-94018400	Weak transcription	Right Ventricle	heart
33	chr1:94009000-94017400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:94009200-94017600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:94009600-94015800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:94009600-94016800	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr1:94009800-94016800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:94009800-94017000	Strong transcription	Fetal Kidney	kidney
39	chr1:94010400-94015200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:94010400-94021800	Weak transcription	Lung	lung
41	chr1:94011000-94015200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:94011000-94018200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:94011800-94016200	Strong transcription	HUVEC	blood vessel
44	chr1:94011800-94016400	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:94011800-94017800	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr1:94011800-94018600	Weak transcription	Colonic Mucosa	Colon
47	chr1:94012000-94016200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:94012000-94016600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:94012000-94016800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:94012200-94019000	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links