Variant report

Variant	rs334143
Chromosome Location	chr2:128263476-128263477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128261114..128269570-chr2:128281581..128286258,13	K562	blood:
2	chr2:128262614..128267545-chr2:128280339..128284643,6	K562	blood:
3	chr2:128263369..128266760-chr2:128270837..128273303,3	K562	blood:
4	chr2:128252742..128255070-chr2:128263163..128265839,2	K562	blood:

Variant related genes	Relation type
ENSG00000163166	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10177052	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1019842	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496661	1.00[ASN][1000 genomes]
rs1075774	0.86[CEU][hapmap]
rs10803587	1.00[CHB][hapmap]
rs10803589	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10850	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11673952	0.86[CEU][hapmap]
rs11679414	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11680877	1.00[ASN][1000 genomes]
rs11683986	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11691916	1.00[ASN][1000 genomes]
rs11692990	1.00[ASN][1000 genomes]
rs12621149	0.81[CEU][hapmap]
rs13030463	1.00[ASN][1000 genomes]
rs1518760	1.00[ASN][1000 genomes]
rs1549767	0.81[CEU][hapmap]
rs1568278	1.00[ASN][1000 genomes]
rs17261845	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17261859	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1820969	1.00[ASN][1000 genomes]
rs1864552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864554	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052954	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069895	1.00[ASN][1000 genomes]
rs2069898	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2069902	1.00[ASN][1000 genomes]
rs2069904	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2069919	1.00[ASN][1000 genomes]
rs2099210	0.91[EUR][1000 genomes]
rs2163345	1.00[ASN][1000 genomes]
rs2163348	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679409	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896979	1.00[ASN][1000 genomes]
rs334137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334138	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334154	0.98[EUR][1000 genomes]
rs334156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334157	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334158	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334160	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3893897	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3958415	1.00[ASN][1000 genomes]
rs4662720	1.00[ASN][1000 genomes]
rs4662736	1.00[ASN][1000 genomes]
rs4662741	0.86[CEU][hapmap]
rs55998444	1.00[ASN][1000 genomes]
rs56273408	1.00[ASN][1000 genomes]
rs5937	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs59378658	1.00[ASN][1000 genomes]
rs61422716	1.00[ASN][1000 genomes]
rs6430938	1.00[ASN][1000 genomes]
rs6706077	0.86[CEU][hapmap]
rs6709113	0.86[CEU][hapmap]
rs6722447	0.82[CEU][hapmap]
rs6756535	1.00[ASN][1000 genomes]
rs72845975	1.00[ASN][1000 genomes]
rs72845976	1.00[ASN][1000 genomes]
rs72845991	1.00[ASN][1000 genomes]
rs72845993	1.00[ASN][1000 genomes]
rs72845997	1.00[ASN][1000 genomes]
rs72846002	1.00[ASN][1000 genomes]
rs72848604	1.00[ASN][1000 genomes]
rs72848612	1.00[ASN][1000 genomes]
rs72848615	1.00[ASN][1000 genomes]
rs72848616	1.00[ASN][1000 genomes]
rs72848618	1.00[ASN][1000 genomes]
rs7562428	1.00[ASN][1000 genomes]
rs7582598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592490	0.88[EUR][1000 genomes]
rs7600934	0.86[CEU][hapmap]
rs7607907	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs777554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs777569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs891514	0.86[CEU][hapmap]
rs9287540	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][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	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128223600-128268800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:128235200-128270000	Strong transcription	Dnd41	blood
3	chr2:128239200-128264800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:128239400-128264400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:128239400-128266200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:128239400-128266400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:128240200-128263600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:128240400-128263800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:128240600-128265600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:128244600-128263600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:128244600-128263800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr2:128244600-128263800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:128244600-128263800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:128244600-128263800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:128245200-128263600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr2:128246200-128271800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:128248000-128264800	Weak transcription	Fetal Heart	heart
18	chr2:128248800-128263800	Strong transcription	Fetal Intestine Large	intestine
19	chr2:128253000-128263800	Strong transcription	Primary T cells from cord blood	blood
20	chr2:128254200-128263800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:128256600-128263800	Strong transcription	HepG2	liver
22	chr2:128256800-128263600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:128257600-128265800	Weak transcription	Psoas Muscle	Psoas
24	chr2:128258400-128263600	Strong transcription	NHEK	skin
25	chr2:128259400-128263600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:128259800-128263800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr2:128261200-128263600	Strong transcription	Rectal Smooth Muscle	rectum
28	chr2:128262400-128263800	Strong transcription	Fetal Intestine Small	intestine
29	chr2:128262600-128265600	Weak transcription	Fetal Brain Female	brain
30	chr2:128262600-128266000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:128262600-128283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:128263000-128264200	Weak transcription	Fetal Lung	lung
33	chr2:128263000-128264800	Enhancers	GM12878-XiMat	blood
34	chr2:128263000-128265600	Weak transcription	Small Intestine	intestine
35	chr2:128263000-128265800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:128263000-128265800	Weak transcription	Fetal Brain Male	brain
37	chr2:128263000-128266200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:128263000-128267600	Weak transcription	Stomach Mucosa	stomach
39	chr2:128263000-128272000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:128263000-128281200	Weak transcription	Fetal Kidney	kidney
41	chr2:128263200-128263600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:128263200-128263600	Strong transcription	HSMM	muscle
43	chr2:128263200-128264200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:128263200-128264200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:128263200-128264200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:128263200-128264200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:128263200-128264200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:128263200-128264200	Weak transcription	Brain Substantia Nigra	brain
49	chr2:128263200-128264200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:128263200-128264200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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