Variant report

Variant	rs17512585
Chromosome Location	chr14:35789682-35789683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35761955..35763950-chr14:35787734..35790332,2	K562	blood:
2	chr14:35787677..35790283-chr14:35804787..35806837,2	MCF-7	breast:
3	chr14:35787443..35789912-chr14:35792627..35795777,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMA6-1	chr14:35789592-35790654	NONHSAT036374

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10134834	0.90[ASN][1000 genomes]
rs11156876	0.89[ASN][1000 genomes]
rs11621075	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12433113	0.87[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs12587689	0.81[ASN][1000 genomes]
rs12878391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884716	0.90[ASN][1000 genomes]
rs1951273	1.00[JPT][hapmap]
rs1957107	0.83[JPT][hapmap]
rs2415276	0.92[ASN][1000 genomes]
rs2415277	0.92[ASN][1000 genomes]
rs2415279	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415286	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28525079	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2899831	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs34031432	0.84[ASN][1000 genomes]
rs35992180	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3742370	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4530028	0.94[ASN][1000 genomes]
rs4981273	0.88[ASN][1000 genomes]
rs6571710	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7143346	1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs7157492	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7157736	0.90[ASN][1000 genomes]
rs7158402	0.96[ASN][1000 genomes]
rs8003136	0.93[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs8004740	0.91[ASN][1000 genomes]
rs8005078	0.93[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs8008319	0.94[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs8009707	0.83[JPT][hapmap]
rs8015175	1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs8181982	1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35766200-35792000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:35769200-35800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:35772400-35790400	Weak transcription	Fetal Heart	heart
4	chr14:35774200-35789800	Strong transcription	Fetal Thymus	thymus
5	chr14:35775000-35790600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:35778400-35790200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:35778400-35790200	Strong transcription	Fetal Muscle Leg	muscle
8	chr14:35778400-35799800	Weak transcription	Stomach Mucosa	stomach
9	chr14:35781000-35789800	Weak transcription	Fetal Brain Male	brain
10	chr14:35782600-35795200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:35783400-35800600	Weak transcription	NHEK	skin
12	chr14:35784000-35790000	Strong transcription	Fetal Stomach	stomach
13	chr14:35784800-35789800	Weak transcription	Aorta	Aorta
14	chr14:35784800-35790000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:35784800-35790000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr14:35784800-35804600	Weak transcription	Ovary	ovary
17	chr14:35784800-35804600	Weak transcription	Psoas Muscle	Psoas
18	chr14:35785400-35800800	Weak transcription	K562	blood
19	chr14:35786400-35790000	Strong transcription	Thymus	Thymus
20	chr14:35786800-35790000	Strong transcription	Fetal Intestine Small	intestine
21	chr14:35787200-35789800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:35787200-35793000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:35787400-35792200	Weak transcription	Fetal Kidney	kidney
24	chr14:35787400-35800800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:35787600-35790400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:35787600-35790600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:35787600-35791800	Weak transcription	Brain Angular Gyrus	brain
28	chr14:35787600-35792400	Weak transcription	Pancreas	Pancrea
29	chr14:35787600-35793200	Weak transcription	HMEC	breast
30	chr14:35787600-35795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:35787600-35800800	Weak transcription	Colonic Mucosa	Colon
32	chr14:35787600-35800800	Weak transcription	Esophagus	oesophagus
33	chr14:35787600-35803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:35787800-35789800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:35787800-35789800	Weak transcription	HUVEC	blood vessel
36	chr14:35787800-35791600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:35787800-35792200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:35787800-35796200	Weak transcription	Gastric	stomach
39	chr14:35788000-35790200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr14:35788000-35790800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:35788000-35791000	Weak transcription	Colon Smooth Muscle	Colon
42	chr14:35788000-35791600	Weak transcription	NHLF	lung
43	chr14:35788000-35793000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr14:35788000-35794000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr14:35788000-35804600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:35788200-35789800	Weak transcription	Hela-S3	cervix
47	chr14:35788200-35789800	Weak transcription	Osteobl	bone
48	chr14:35788200-35790000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr14:35788200-35790000	Weak transcription	Brain Substantia Nigra	brain
50	chr14:35788200-35792800	Weak transcription	Primary B cells from peripheral blood	blood

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