Variant report

Variant	rs7591477
Chromosome Location	chr2:128523040-128523041
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	chr2:128520589..128524042-chr2:128525404..128527668,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10171898	1.00[ASN][1000 genomes]
rs10210695	1.00[ASN][1000 genomes]
rs11557685	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674513	1.00[ASN][1000 genomes]
rs11678032	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11682274	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11692524	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11693223	0.85[AFR][1000 genomes]
rs11693759	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13397060	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13421835	0.81[ASN][1000 genomes]
rs13423029	0.81[ASN][1000 genomes]
rs17418125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534053	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534123	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599575	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17600177	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771291	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56954978	1.00[ASN][1000 genomes]
rs57410763	0.86[ASN][1000 genomes]
rs57498556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57913162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57986825	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58080260	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59009188	0.86[ASN][1000 genomes]
rs59090605	1.00[ASN][1000 genomes]
rs59727076	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59918187	0.81[ASN][1000 genomes]
rs60087786	1.00[ASN][1000 genomes]
rs61187878	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730415	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714620	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734925	1.00[ASN][1000 genomes]
rs6756507	1.00[ASN][1000 genomes]
rs72963794	1.00[ASN][1000 genomes]
rs7560482	0.81[ASN][1000 genomes]
rs7574303	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7575961	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585200	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605158	1.00[JPT][hapmap];1.00[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	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv428726	chr2:128387756-128539894	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7591477	WDR33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128479400-128560400	Weak transcription	Esophagus	oesophagus
2	chr2:128493000-128526800	Weak transcription	Psoas Muscle	Psoas
3	chr2:128493000-128528000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:128498200-128562800	Weak transcription	Pancreas	Pancrea
5	chr2:128498400-128533800	Weak transcription	Right Ventricle	heart
6	chr2:128501400-128527400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:128507600-128542800	Weak transcription	Stomach Mucosa	stomach
8	chr2:128508800-128524200	Weak transcription	Fetal Intestine Small	intestine
9	chr2:128509000-128529200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:128510800-128529400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:128511000-128529200	Strong transcription	Dnd41	blood
12	chr2:128511800-128529200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:128512800-128528200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:128513000-128529400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:128514400-128529200	Strong transcription	Fetal Thymus	thymus
16	chr2:128514800-128526200	Strong transcription	HSMM	muscle
17	chr2:128514800-128528800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:128515000-128526200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:128515000-128529000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:128515000-128529200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:128515000-128529200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:128515400-128525800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:128515400-128528800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:128515600-128523200	Strong transcription	A549	lung
25	chr2:128515600-128527000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr2:128515600-128529000	Strong transcription	Primary T cells from cord blood	blood
27	chr2:128515600-128529600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:128515800-128526000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:128515800-128527800	Strong transcription	NHDF-Ad	bronchial
30	chr2:128515800-128529200	Strong transcription	K562	blood
31	chr2:128516000-128528200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:128516200-128528800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:128516400-128529000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:128516400-128529200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:128516800-128523400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr2:128517400-128528000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:128517400-128528400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:128517400-128529000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:128517400-128529200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:128517600-128526000	Strong transcription	Primary hematopoietic stem cells	blood
41	chr2:128517800-128523200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:128517800-128525200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:128517800-128525800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:128518000-128524800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:128518000-128528000	Strong transcription	Liver	Liver
46	chr2:128518400-128526000	Strong transcription	HUVEC	blood vessel
47	chr2:128518600-128523200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:128518600-128523200	Strong transcription	Thymus	Thymus
49	chr2:128518800-128527200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:128518800-128528000	Strong transcription	Placenta	Placenta

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