Variant report

Variant	rs9425737
Chromosome Location	chr1:173759317-173759318
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:173758731-173762664	K562	blood:	n/a	n/a

Variant related genes	Relation type
RN7SKP160	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10082296	1.00[AMR][1000 genomes]
rs10128064	1.00[AMR][1000 genomes]
rs10158274	1.00[AMR][1000 genomes]
rs10159349	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12239406	1.00[AMR][1000 genomes]
rs13313018	1.00[AMR][1000 genomes]
rs13353023	1.00[YRI][hapmap]
rs13374735	1.00[AMR][1000 genomes]
rs13375569	1.00[AMR][1000 genomes]
rs13376339	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227605	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227621	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4650988	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4652416	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6425252	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6656810	1.00[AMR][1000 genomes]
rs6665497	1.00[ASW][hapmap];1.00[LWK][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs7349122	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7349166	0.88[AFR][1000 genomes]
rs7525411	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9286893	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425412	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425417	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425432	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425437	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425732	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425733	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425743	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425744	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9425763	0.81[AFR][1000 genomes]
rs9425767	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425769	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425770	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425771	0.88[AFR][1000 genomes]
rs9425777	1.00[ASW][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap]
rs9425778	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]

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:122 , 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	chr1:173729800-173781800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:173735800-173781000	Weak transcription	Small Intestine	intestine
5	chr1:173736600-173792400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:173736800-173760600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:173741800-173759600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:173741800-173762400	Weak transcription	Stomach Mucosa	stomach
9	chr1:173742800-173759800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:173744800-173790200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:173745000-173767400	Weak transcription	NHEK	skin
12	chr1:173745000-173792400	Weak transcription	Psoas Muscle	Psoas
13	chr1:173745200-173765200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:173745800-173759600	Strong transcription	Liver	Liver
15	chr1:173747800-173769200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:173749200-173792600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:173749800-173777800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:173750600-173760800	Weak transcription	Fetal Heart	heart
19	chr1:173751200-173773600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:173751400-173759600	Strong transcription	HSMM	muscle
21	chr1:173751400-173769000	Weak transcription	Fetal Intestine Small	intestine
22	chr1:173751400-173792200	Weak transcription	Fetal Kidney	kidney
23	chr1:173751800-173774600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:173752600-173790000	Weak transcription	HepG2	liver
25	chr1:173752800-173771800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:173752800-173777000	Weak transcription	Brain Angular Gyrus	brain
27	chr1:173753200-173760600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:173753200-173774400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:173753200-173792200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:173753200-173792800	Weak transcription	Esophagus	oesophagus
31	chr1:173753400-173760600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:173753400-173760600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:173753400-173760600	Weak transcription	Lung	lung
34	chr1:173753400-173760800	Weak transcription	Fetal Brain Male	brain
35	chr1:173753400-173765400	Weak transcription	Fetal Stomach	stomach
36	chr1:173753400-173767200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:173753400-173772200	Weak transcription	Aorta	Aorta
38	chr1:173753400-173774400	Weak transcription	Ovary	ovary
39	chr1:173753400-173775000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:173753400-173787800	Weak transcription	Right Ventricle	heart
41	chr1:173753400-173792600	Weak transcription	Spleen	Spleen
42	chr1:173753400-173792800	Weak transcription	Gastric	stomach
43	chr1:173753400-173792800	Weak transcription	Pancreas	Pancrea
44	chr1:173753600-173759800	Weak transcription	Colonic Mucosa	Colon
45	chr1:173753600-173787600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:173753600-173792600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:173753800-173767800	Weak transcription	A549	lung
48	chr1:173754000-173774400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:173754000-173774600	Weak transcription	Brain Anterior Caudate	brain
50	chr1:173754200-173792200	Weak transcription	Fetal Brain Female	brain

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