Variant report

Variant	rs6692287
Chromosome Location	chr1:92816846-92816847
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	chr1:92815976..92817920-chr1:92833285..92836227,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10747422	0.81[AFR][1000 genomes]
rs10875319	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10875349	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11164288	0.92[EUR][1000 genomes]
rs11164349	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11164546	0.83[EUR][1000 genomes]
rs11803383	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11803457	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12024731	0.84[EUR][1000 genomes]
rs12086394	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1487536	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1487540	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1542685	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1872007	0.82[EUR][1000 genomes]
rs2046620	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2087194	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2391161	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3103176	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3103178	0.90[EUR][1000 genomes]
rs3103181	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3122321	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3122323	0.82[EUR][1000 genomes]
rs3122325	0.81[EUR][1000 genomes]
rs3122327	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3131813	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3131814	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3131827	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3131828	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3929737	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4393167	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4414050	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4658300	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6603962	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6603971	0.85[EUR][1000 genomes]
rs6604088	0.90[EUR][1000 genomes]
rs6604090	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6661384	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6663114	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6663118	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6663278	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6668803	0.92[EUR][1000 genomes]
rs6689366	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6702267	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs733012	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs745793	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7517541	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7518974	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7520275	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7539757	0.81[EUR][1000 genomes]
rs7543947	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7554154	0.83[EUR][1000 genomes]
rs912794	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9440085	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9943178	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92765800-92850000	Weak transcription	Small Intestine	intestine
2	chr1:92771800-92823800	Weak transcription	Colonic Mucosa	Colon
3	chr1:92789800-92830600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:92792400-92817400	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:92792400-92823600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:92792600-92846600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:92792800-92850800	Weak transcription	Fetal Heart	heart
8	chr1:92793600-92817200	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:92793600-92823400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:92793800-92830200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:92794000-92823000	Weak transcription	Brain Substantia Nigra	brain
12	chr1:92795000-92817600	Weak transcription	Brain Germinal Matrix	brain
13	chr1:92795000-92823000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:92795200-92817000	Weak transcription	Esophagus	oesophagus
15	chr1:92795200-92817000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:92795200-92823400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:92795200-92825000	Weak transcription	Aorta	Aorta
18	chr1:92795200-92825000	Weak transcription	Lung	lung
19	chr1:92795200-92830400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:92795200-92846600	Weak transcription	Gastric	stomach
21	chr1:92795200-92850200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:92795200-92851400	Weak transcription	Spleen	Spleen
23	chr1:92795400-92825200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:92795600-92825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:92795600-92826400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:92795600-92831200	Weak transcription	NHLF	lung
27	chr1:92795800-92817600	Weak transcription	Brain Angular Gyrus	brain
28	chr1:92795800-92817800	Weak transcription	HSMMtube	muscle
29	chr1:92795800-92834800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:92796200-92817200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:92796400-92819600	Weak transcription	Pancreas	Pancrea
32	chr1:92796400-92823200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:92797800-92830800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:92798200-92846800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:92799600-92830400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:92800200-92818400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:92802600-92817400	Weak transcription	Fetal Brain Female	brain
38	chr1:92802800-92822800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:92803000-92817000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:92804200-92825800	Weak transcription	HUVEC	blood vessel
41	chr1:92804400-92818400	Weak transcription	K562	blood
42	chr1:92804400-92846400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:92804400-92853200	Weak transcription	NHEK	skin
44	chr1:92804600-92817200	Weak transcription	Left Ventricle	heart
45	chr1:92804600-92818400	Weak transcription	Brain Anterior Caudate	brain
46	chr1:92804600-92830200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:92804600-92833200	Weak transcription	NH-A	brain
48	chr1:92805600-92827000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:92807000-92823400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:92808200-92824600	Weak transcription	HMEC	breast

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