Variant report

Variant	rs7316991
Chromosome Location	chr13:49065565-49065566
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49063272..49066257-chr13:49067561..49069081,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs17069281	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071548	1.00[EUR][1000 genomes]
rs17071560	1.00[EUR][1000 genomes]
rs17071673	1.00[EUR][1000 genomes]
rs17071675	1.00[EUR][1000 genomes]
rs17071714	0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[EUR][1000 genomes]
rs17071716	1.00[EUR][1000 genomes]
rs3092865	1.00[EUR][1000 genomes]
rs3092883	1.00[EUR][1000 genomes]
rs3092886	1.00[MEX][hapmap]
rs3901587	1.00[EUR][1000 genomes]
rs41425345	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs4151460	1.00[EUR][1000 genomes]
rs4151468	1.00[EUR][1000 genomes]
rs4151487	1.00[EUR][1000 genomes]
rs4151514	1.00[EUR][1000 genomes]
rs4151516	1.00[EUR][1000 genomes]
rs4151527	1.00[EUR][1000 genomes]
rs4151563	1.00[EUR][1000 genomes]
rs4151587	1.00[EUR][1000 genomes]
rs4151621	1.00[EUR][1000 genomes]
rs4151628	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4303378	1.00[EUR][1000 genomes]
rs56945534	1.00[EUR][1000 genomes]
rs58318754	1.00[EUR][1000 genomes]
rs59355608	1.00[EUR][1000 genomes]
rs59550884	1.00[EUR][1000 genomes]
rs6561463	1.00[EUR][1000 genomes]
rs6561467	1.00[EUR][1000 genomes]
rs7319069	1.00[YRI][hapmap];0.89[AMR][1000 genomes]
rs7321847	1.00[EUR][1000 genomes]
rs7323517	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7324752	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7325924	1.00[EUR][1000 genomes]
rs7329733	1.00[EUR][1000 genomes]
rs7333561	1.00[EUR][1000 genomes]
rs7337056	1.00[EUR][1000 genomes]
rs73487075	1.00[EUR][1000 genomes]
rs73487091	1.00[EUR][1000 genomes]
rs73490880	1.00[EUR][1000 genomes]
rs73493099	1.00[EUR][1000 genomes]
rs74074170	1.00[EUR][1000 genomes]
rs74074184	1.00[EUR][1000 genomes]
rs7981750	0.81[MKK][hapmap];1.00[EUR][1000 genomes]
rs7984036	1.00[EUR][1000 genomes]
rs7984309	1.00[EUR][1000 genomes]
rs7997794	1.00[EUR][1000 genomes]
rs9331954	1.00[EUR][1000 genomes]
rs9332019	1.00[EUR][1000 genomes]
rs9332048	1.00[EUR][1000 genomes]
rs9332086	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332287	1.00[EUR][1000 genomes]
rs9332296	1.00[EUR][1000 genomes]
rs9332298	1.00[EUR][1000 genomes]
rs943282	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription 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	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv3384312	chr13:49063851-49067249	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49023800-49073800	Weak transcription	NH-A	brain
2	chr13:49025600-49066200	Weak transcription	Psoas Muscle	Psoas
3	chr13:49028000-49071000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:49030600-49070600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr13:49031600-49066200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr13:49032000-49065600	Weak transcription	Brain Anterior Caudate	brain
7	chr13:49032000-49066200	Weak transcription	Colonic Mucosa	Colon
8	chr13:49032400-49066200	Weak transcription	Spleen	Spleen
9	chr13:49032400-49066600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:49032400-49066600	Weak transcription	Ovary	ovary
11	chr13:49032400-49067400	Weak transcription	Pancreas	Pancrea
12	chr13:49032400-49067600	Weak transcription	Gastric	stomach
13	chr13:49032800-49066200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr13:49034400-49073800	Weak transcription	Esophagus	oesophagus
15	chr13:49035200-49073400	Weak transcription	Fetal Intestine Small	intestine
16	chr13:49035600-49066000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr13:49035800-49066400	Weak transcription	NHEK	skin
18	chr13:49049800-49066200	Weak transcription	Lung	lung
19	chr13:49050000-49065600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr13:49053600-49071200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:49053800-49066600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:49054000-49094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:49054200-49066600	Weak transcription	Aorta	Aorta
24	chr13:49054400-49065600	Weak transcription	HUVEC	blood vessel
25	chr13:49054400-49065800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr13:49054400-49065800	Weak transcription	NHLF	lung
27	chr13:49054400-49066200	Weak transcription	Brain Angular Gyrus	brain
28	chr13:49054400-49066200	Weak transcription	Placenta	Placenta
29	chr13:49054400-49066200	Weak transcription	HSMMtube	muscle
30	chr13:49054400-49066400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr13:49054400-49066600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:49054600-49065600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr13:49054600-49065600	Weak transcription	Osteobl	bone
34	chr13:49054600-49066000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:49054600-49066200	Weak transcription	HMEC	breast
36	chr13:49055000-49065600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr13:49056600-49065600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:49057400-49068400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:49060600-49067400	Weak transcription	Stomach Mucosa	stomach
40	chr13:49061400-49072000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr13:49062200-49066200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:49062200-49066400	Weak transcription	Right Ventricle	heart
43	chr13:49062400-49066200	Enhancers	Primary B cells from peripheral blood	blood
44	chr13:49062400-49067200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr13:49062600-49065600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr13:49062600-49070800	Weak transcription	Fetal Brain Male	brain
47	chr13:49062800-49065600	Enhancers	Primary B cells from cord blood	blood
48	chr13:49062800-49066000	Weak transcription	Fetal Muscle Leg	muscle
49	chr13:49062800-49066200	Weak transcription	Fetal Stomach	stomach
50	chr13:49062800-49066200	Weak transcription	HSMM	muscle

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