Variant report

Variant	rs2247119
Chromosome Location	chr13:50087142-50087143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50086064..50088335-chr13:50090580..50092913,2	K562	blood:
2	chr13:50085860..50087945-chr13:50089850..50091816,2	MCF-7	breast:
3	chr13:50072605..50075983-chr13:50085931..50088388,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12429813	0.81[JPT][hapmap]
rs12429883	0.86[CHD][hapmap];0.90[JPT][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap]
rs1325660	0.81[AFR][1000 genomes]
rs2057414	0.81[JPT][hapmap]
rs2274277	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34976750	0.81[AFR][1000 genomes]
rs3764088	0.87[AFR][1000 genomes]
rs4340215	0.87[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4430650	0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4942833	0.80[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs7322971	0.82[YRI][hapmap]
rs7997737	0.81[JPT][hapmap]
rs9316454	0.81[JPT][hapmap]

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	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv900070	chr13:50013622-50087142	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised 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	29 gene(s)	inside rSNPs	diseases
7	nsv1036135	chr13:50071310-50183103	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv541770	chr13:50071310-50183103	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2247119	TRIM13	cis	parietal	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50070200-50089200	Weak transcription	Fetal Brain Male	brain
2	chr13:50070800-50087400	Weak transcription	Placenta	Placenta
3	chr13:50070800-50087600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr13:50070800-50087800	Weak transcription	Aorta	Aorta
5	chr13:50070800-50087800	Weak transcription	NHEK	skin
6	chr13:50070800-50088000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr13:50070800-50088000	Weak transcription	Brain Anterior Caudate	brain
8	chr13:50070800-50088000	Weak transcription	Esophagus	oesophagus
9	chr13:50070800-50088000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr13:50070800-50088200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:50070800-50088200	Weak transcription	Brain Substantia Nigra	brain
12	chr13:50070800-50095600	Weak transcription	Fetal Kidney	kidney
13	chr13:50071000-50087800	Weak transcription	Colonic Mucosa	Colon
14	chr13:50071000-50087800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr13:50071000-50087800	Weak transcription	Right Ventricle	heart
16	chr13:50071000-50088000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr13:50071000-50093400	Weak transcription	HepG2	liver
18	chr13:50071400-50087200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr13:50071800-50087200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr13:50071800-50088000	Weak transcription	Pancreas	Pancrea
21	chr13:50074000-50093000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr13:50075000-50087800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr13:50075000-50087800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr13:50075000-50088200	Weak transcription	HMEC	breast
25	chr13:50075000-50102400	Weak transcription	NH-A	brain
26	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
27	chr13:50075200-50087800	Weak transcription	Osteobl	bone
28	chr13:50075400-50088000	Weak transcription	Colon Smooth Muscle	Colon
29	chr13:50077400-50087800	Weak transcription	Left Ventricle	heart
30	chr13:50077600-50088000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:50077600-50088000	Weak transcription	Gastric	stomach
32	chr13:50077600-50088000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr13:50077600-50088000	Weak transcription	Spleen	Spleen
34	chr13:50077600-50114000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:50078600-50088000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:50080000-50087400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr13:50080000-50087800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr13:50080000-50087800	Weak transcription	NHLF	lung
39	chr13:50080000-50092000	Weak transcription	NHDF-Ad	bronchial
40	chr13:50080000-50107000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr13:50080200-50087800	Weak transcription	Brain Hippocampus Middle	brain
42	chr13:50080200-50088000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr13:50080200-50104600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr13:50080400-50087800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr13:50080400-50087800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:50080400-50088000	Weak transcription	HSMMtube	muscle
47	chr13:50080600-50098000	Strong transcription	Primary B cells from cord blood	blood
48	chr13:50080600-50101000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr13:50080600-50104600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr13:50082000-50087200	Weak transcription	HSMM	muscle

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