Variant report

Variant	rs17735387
Chromosome Location	chr13:92006054-92006055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91884146..91887064-chr13:92005810..92007927,2	K562	blood:
2	chr13:92004480..92006779-chr13:92126847..92129615,2	K562	blood:
3	chr13:92005893..92007977-chr13:92204447..92207265,2	K562	blood:
4	chr13:92004766..92010130-chr13:92235897..92240121,6	K562	blood:
5	chr13:91683791..91685341-chr13:92005987..92008919,2	K562	blood:
6	chr13:91810897..91813818-chr13:92005189..92006856,2	K562	blood:
7	chr13:92004916..92007687-chr14:39637524..39640281,2	K562	blood:
8	chr13:92005605..92008410-chr13:108568744..108570897,2	K562	blood:
9	chr13:92005453..92007764-chr13:92312493..92314685,2	K562	blood:
10	chr13:92004766..92008845-chr13:92235897..92239237,4	K562	blood:
11	chr13:91833346..91836233-chr13:92004886..92007249,2	K562	blood:
12	chr13:91867306..91869481-chr13:92003803..92007635,3	K562	blood:
13	chr13:91906077..91908122-chr13:92005714..92008494,2	K562	blood:
14	chr1:244996766..244998804-chr13:92005393..92008126,2	K562	blood:
15	chr13:92004230..92006612-chr6:18154943..18157881,2	K562	blood:
16	chr13:92004278..92006382-chr5:27545617..27547117,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC5-1	chr13:92001952-92006829	NONHSAT034665
2	lnc-GPC5-1	chr13:92006017-92006832	NONHSAT034695

No data

Variant related genes	Relation type
ENSG00000137364	Chromatin interaction
ENSG00000165097	Chromatin interaction
ENSG00000203667	Chromatin interaction
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11838867	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs11839648	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11842349	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12583515	0.81[EUR][1000 genomes]
rs12583555	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17667894	0.93[CHB][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17667900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17667931	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17667973	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17735357	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17735544	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1888138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59829937	0.87[EUR][1000 genomes]
rs60279891	0.87[EUR][1000 genomes]
rs60699901	0.90[ASN][1000 genomes]
rs7323996	0.97[ASN][1000 genomes]
rs7324952	0.92[CHB][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
2	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	esv1803618	chr13:91669587-92277699	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1945 gene(s)	inside rSNPs	diseases
4	nsv1050259	chr13:91759549-92152078	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
5	nsv541872	chr13:91759549-92152078	Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
6	nsv832679	chr13:91859467-92030220	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1943 gene(s)	inside rSNPs	diseases
7	esv1802171	chr13:91999737-92015977	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1940 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	chr13:92001600-92010200	Weak transcription	Spleen	Spleen
2	chr13:92001600-92010800	Weak transcription	Pancreas	Pancrea
3	chr13:92001600-92012200	Weak transcription	Esophagus	oesophagus
4	chr13:92001800-92007000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:92001800-92015600	Weak transcription	Ovary	ovary
6	chr13:92001800-92027200	Weak transcription	Aorta	Aorta
7	chr13:92002000-92008400	Strong transcription	Placenta	Placenta
8	chr13:92002000-92011000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr13:92002000-92011200	Weak transcription	Colonic Mucosa	Colon
10	chr13:92002000-92012200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr13:92002200-92007200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
12	chr13:92002200-92008400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:92002200-92008800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr13:92002200-92010800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr13:92002400-92006400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr13:92002400-92010800	Weak transcription	Brain Angular Gyrus	brain
17	chr13:92002400-92012000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr13:92002800-92009600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr13:92002800-92009800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr13:92002800-92010000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr13:92003000-92008000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:92003000-92009000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr13:92003000-92009000	Weak transcription	Lung	lung
24	chr13:92003000-92009400	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr13:92003200-92010400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr13:92003400-92010000	Weak transcription	Fetal Brain Male	brain
27	chr13:92003400-92014000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr13:92003600-92006200	Weak transcription	Primary B cells from cord blood	blood
29	chr13:92003600-92006200	Weak transcription	NHLF	lung
30	chr13:92003600-92006600	Enhancers	Fetal Heart	heart
31	chr13:92003600-92006600	Weak transcription	Fetal Stomach	stomach
32	chr13:92003600-92007200	Genic enhancers	HepG2	liver
33	chr13:92003600-92007400	Weak transcription	Left Ventricle	heart
34	chr13:92003600-92008000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:92003600-92008200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:92003600-92008400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr13:92003600-92008400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr13:92003600-92008800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:92003600-92009000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr13:92003600-92009200	Genic enhancers	Liver	Liver
41	chr13:92003600-92009200	Weak transcription	Brain Germinal Matrix	brain
42	chr13:92003600-92009600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr13:92003600-92010000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr13:92003600-92010000	Strong transcription	Fetal Muscle Leg	muscle
45	chr13:92003600-92010000	Strong transcription	NHEK	skin
46	chr13:92003600-92010800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:92003600-92010800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr13:92003600-92010800	Strong transcription	HSMM	muscle
49	chr13:92003600-92011800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr13:92003600-92012000	Weak transcription	Brain Inferior Temporal Lobe	brain

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