Variant report

Variant	rs9425414
Chromosome Location	chr1:173751533-173751534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173750300..173752946-chr1:173792995..173794577,2	K562	blood:

Variant related genes	Relation type
ENSG00000120334	Chromatin interaction
ENSG00000117593	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10157215	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157218	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157371	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157384	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157684	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158197	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158568	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10158663	0.82[YRI][hapmap]
rs10399912	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489892	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489893	1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912668	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912674	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912678	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs10912680	1.00[ASW][hapmap];0.88[YRI][hapmap]
rs10912681	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912683	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10912687	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912688	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912693	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912699	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912700	1.00[EUR][1000 genomes]
rs10912701	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10912707	1.00[EUR][1000 genomes]
rs10912708	1.00[EUR][1000 genomes]
rs10912711	1.00[EUR][1000 genomes]
rs10912712	1.00[EUR][1000 genomes]
rs1135333	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11487390	1.00[EUR][1000 genomes]
rs12057440	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060967	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061013	1.00[EUR][1000 genomes]
rs12062801	1.00[EUR][1000 genomes]
rs12063273	1.00[EUR][1000 genomes]
rs12063296	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12064818	1.00[EUR][1000 genomes]
rs12065194	1.00[EUR][1000 genomes]
rs12067109	1.00[EUR][1000 genomes]
rs12067191	1.00[EUR][1000 genomes]
rs12068440	1.00[EUR][1000 genomes]
rs12069446	1.00[EUR][1000 genomes]
rs12072553	1.00[EUR][1000 genomes]
rs12073448	1.00[EUR][1000 genomes]
rs12078471	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078645	1.00[EUR][1000 genomes]
rs12078817	1.00[EUR][1000 genomes]
rs12079240	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079315	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079650	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12080389	0.86[YRI][hapmap]
rs12081137	0.89[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12083064	0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084213	1.00[EUR][1000 genomes]
rs12086687	1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090440	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090507	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093624	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094130	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs12094912	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096832	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs1322771	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs1322772	0.82[YRI][hapmap]
rs1322773	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1322781	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1474907	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs1570385	1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846383	1.00[ASW][hapmap]
rs16846395	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846398	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846420	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs1903410	1.00[EUR][1000 genomes]
rs1903411	1.00[EUR][1000 genomes]
rs2227611	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2227622	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28578576	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs28853918	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652225	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56195767	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57586767	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57820984	0.91[AMR][1000 genomes]
rs59090917	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59332560	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60047664	1.00[EUR][1000 genomes]
rs6425256	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425257	0.82[YRI][hapmap]
rs6663880	0.82[YRI][hapmap]
rs6675762	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs6684147	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6690869	1.00[EUR][1000 genomes]
rs6691327	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs6692452	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs73033131	1.00[EUR][1000 genomes]
rs74126415	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518130	1.00[ASW][hapmap]
rs7536773	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs7544583	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs7550036	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs7550107	1.00[EUR][1000 genomes]
rs7552840	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs7556211	1.00[EUR][1000 genomes]
rs874342	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9282959	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs9286886	0.85[YRI][hapmap]
rs9286887	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs9286890	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs9425413	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425415	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs9425422	0.82[YRI][hapmap]
rs9425423	0.82[YRI][hapmap]
rs9425427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425735	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425736	0.82[YRI][hapmap]
rs9425741	0.82[YRI][hapmap]
rs9425752	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs9425759	1.00[ASW][hapmap]
rs9425761	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs9425768	1.00[ASW][hapmap];0.86[LWK][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9442660	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs9970633	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs997165	1.00[EUR][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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 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	chr1:173726200-173760600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:173728800-173764800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:173729000-173752400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:173729000-173752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:173729000-173752600	Weak transcription	Right Ventricle	heart
6	chr1:173729600-173752200	Weak transcription	A549	lung
7	chr1:173729800-173781800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:173735800-173781000	Weak transcription	Small Intestine	intestine
9	chr1:173736600-173792400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:173736800-173760600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:173741400-173757400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:173741800-173759600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:173741800-173762400	Weak transcription	Stomach Mucosa	stomach
14	chr1:173742800-173754400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:173742800-173759800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:173743200-173755400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr1:173743200-173757200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:173743200-173758800	Strong transcription	Primary T cells from cord blood	blood
19	chr1:173743400-173752200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:173743400-173753800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:173743400-173755600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:173743400-173757200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:173743400-173757200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:173743400-173757400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:173743400-173757800	Strong transcription	Dnd41	blood
26	chr1:173743400-173758000	Strong transcription	Fetal Thymus	thymus
27	chr1:173743600-173755400	Strong transcription	Adipose Nuclei	Adipose
28	chr1:173744400-173752400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:173744800-173752200	Weak transcription	HMEC	breast
30	chr1:173744800-173790200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:173745000-173752600	Weak transcription	Aorta	Aorta
32	chr1:173745000-173752600	Weak transcription	Gastric	stomach
33	chr1:173745000-173767400	Weak transcription	NHEK	skin
34	chr1:173745000-173792400	Weak transcription	Psoas Muscle	Psoas
35	chr1:173745200-173752400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:173745200-173765200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:173745800-173759600	Strong transcription	Liver	Liver
38	chr1:173746000-173753400	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:173746200-173754600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:173746800-173757200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:173746800-173757200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:173746800-173757200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:173747200-173757200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:173747400-173755400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:173747400-173756600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:173747400-173757200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:173747800-173752600	Weak transcription	Esophagus	oesophagus
48	chr1:173747800-173769200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:173748200-173753400	Weak transcription	Right Atrium	heart
50	chr1:173748600-173753600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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