Variant report

Variant	rs57586767
Chromosome Location	chr1:173760342-173760343
allele	A/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	chr1:173760272-173761669	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:173758731-173762664	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173445302..173447387-chr1:173760235..173762454,2	MCF-7	breast:

Variant related genes	Relation type
RN7SKP160	TF binding region
ENSG00000117592	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10157215	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157218	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157371	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157384	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157684	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158197	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158568	1.00[EUR][1000 genomes]
rs10399912	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489892	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489893	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912668	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912674	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912681	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912683	0.84[AMR][1000 genomes]
rs10912687	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912688	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912699	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912700	1.00[EUR][1000 genomes]
rs10912701	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	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11487390	1.00[EUR][1000 genomes]
rs12057440	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060967	0.88[AFR][1000 genomes];1.00[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[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	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078645	1.00[EUR][1000 genomes]
rs12078817	1.00[EUR][1000 genomes]
rs12079240	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079315	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079650	1.00[EUR][1000 genomes]
rs12081137	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12083064	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084213	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086687	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090440	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090507	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093624	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094912	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1322773	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1322781	1.00[EUR][1000 genomes]
rs1570385	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846395	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846398	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1903410	1.00[EUR][1000 genomes]
rs1903411	1.00[EUR][1000 genomes]
rs2227611	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2227622	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28853918	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652225	0.91[AMR][1000 genomes]
rs56195767	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57820984	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59090917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59332560	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60047664	1.00[EUR][1000 genomes]
rs6425256	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6684147	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6690869	1.00[EUR][1000 genomes]
rs73033131	1.00[EUR][1000 genomes]
rs74126415	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7550107	1.00[EUR][1000 genomes]
rs7556211	1.00[EUR][1000 genomes]
rs874342	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425413	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425414	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425427	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425735	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425768	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
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:121 , 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	chr1:173741800-173762400	Weak transcription	Stomach Mucosa	stomach
8	chr1:173744800-173790200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:173745000-173767400	Weak transcription	NHEK	skin
10	chr1:173745000-173792400	Weak transcription	Psoas Muscle	Psoas
11	chr1:173745200-173765200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:173747800-173769200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:173749200-173792600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:173749800-173777800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:173750600-173760800	Weak transcription	Fetal Heart	heart
16	chr1:173751200-173773600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:173751400-173769000	Weak transcription	Fetal Intestine Small	intestine
18	chr1:173751400-173792200	Weak transcription	Fetal Kidney	kidney
19	chr1:173751800-173774600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:173752600-173790000	Weak transcription	HepG2	liver
21	chr1:173752800-173771800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:173752800-173777000	Weak transcription	Brain Angular Gyrus	brain
23	chr1:173753200-173760600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:173753200-173774400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:173753200-173792200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:173753200-173792800	Weak transcription	Esophagus	oesophagus
27	chr1:173753400-173760600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:173753400-173760600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:173753400-173760600	Weak transcription	Lung	lung
30	chr1:173753400-173760800	Weak transcription	Fetal Brain Male	brain
31	chr1:173753400-173765400	Weak transcription	Fetal Stomach	stomach
32	chr1:173753400-173767200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:173753400-173772200	Weak transcription	Aorta	Aorta
34	chr1:173753400-173774400	Weak transcription	Ovary	ovary
35	chr1:173753400-173775000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:173753400-173787800	Weak transcription	Right Ventricle	heart
37	chr1:173753400-173792600	Weak transcription	Spleen	Spleen
38	chr1:173753400-173792800	Weak transcription	Gastric	stomach
39	chr1:173753400-173792800	Weak transcription	Pancreas	Pancrea
40	chr1:173753600-173787600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:173753600-173792600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:173753800-173767800	Weak transcription	A549	lung
43	chr1:173754000-173774400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:173754000-173774600	Weak transcription	Brain Anterior Caudate	brain
45	chr1:173754200-173792200	Weak transcription	Fetal Brain Female	brain
46	chr1:173754400-173760800	Weak transcription	K562	blood
47	chr1:173754400-173774800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:173754400-173782200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:173754400-173786000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:173754400-173792600	Weak transcription	Brain Hippocampus Middle	brain

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