Variant report

Variant	rs4253302
Chromosome Location	chr4:187173488-187173489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2304596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28721981	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775301	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4253239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4253260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4253262	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4253285	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4253292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4253318	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4253319	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4253321	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4253323	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4253330	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55686332	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55846148	0.84[EUR][1000 genomes]
rs55975907	0.84[EUR][1000 genomes]
rs56105926	0.84[EUR][1000 genomes]
rs56413992	0.86[EUR][1000 genomes]
rs62348795	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72710572	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9998455	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv931977	chr4:186912987-187364756	Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv869299	chr4:186958290-187192748	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1033203	chr4:186990348-187333476	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv537431	chr4:186990348-187333476	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv461864	chr4:187006806-187257004	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv596392	chr4:187006806-187257004	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv461865	chr4:187072383-187366649	Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv596401	chr4:187072383-187366649	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv1022059	chr4:187082701-187183953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv881472	chr4:187152142-187187005	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4253302	KLKB1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187131800-187181600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:187148200-187179200	Weak transcription	Lung	lung
3	chr4:187148400-187179400	Weak transcription	Pancreas	Pancrea
4	chr4:187149800-187181600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:187149800-187186800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:187150200-187187200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:187151000-187187200	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:187152000-187179400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:187154000-187182000	Weak transcription	Primary T cells from cord blood	blood
10	chr4:187156800-187179200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:187158400-187181400	Weak transcription	Fetal Intestine Large	intestine
12	chr4:187169200-187173600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:187170000-187179800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:187170000-187180200	Weak transcription	Brain Angular Gyrus	brain
15	chr4:187170200-187175000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:187170200-187179200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:187170800-187174400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:187170800-187182000	Weak transcription	Right Ventricle	heart
19	chr4:187171200-187182000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:187171400-187182000	Weak transcription	Spleen	Spleen
21	chr4:187171600-187179200	Weak transcription	Fetal Intestine Small	intestine
22	chr4:187171600-187182000	Weak transcription	Gastric	stomach
23	chr4:187171800-187181000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:187172000-187182000	Weak transcription	Adipose Nuclei	Adipose
25	chr4:187172200-187182000	Weak transcription	Esophagus	oesophagus
26	chr4:187172400-187173600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:187172600-187173600	Strong transcription	Brain Anterior Caudate	brain
28	chr4:187172800-187173600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:187172800-187177400	Strong transcription	Liver	Liver
30	chr4:187173000-187173600	Genic enhancers	H1 Cell Line	embryonic stem cell
31	chr4:187173000-187173600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:187173000-187173600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:187173000-187173600	Strong transcription	Brain Substantia Nigra	brain
34	chr4:187173000-187173600	Strong transcription	Psoas Muscle	Psoas
35	chr4:187173000-187173800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:187173000-187173800	Strong transcription	Left Ventricle	heart
37	chr4:187173200-187173600	Genic enhancers	H9 Cell Line	embryonic stem cell
38	chr4:187173200-187173600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:187173200-187173800	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:187173400-187175200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr4:187173400-187176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:187173400-187177400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:187173400-187178800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:187173400-187179600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:187173400-187180200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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