Variant report

Variant	rs2303717
Chromosome Location	chr5:112926982-112926983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10045444	0.84[AMR][1000 genomes]
rs10071966	0.83[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1035408	0.82[EUR][1000 genomes]
rs1132528	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11957650	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12659978	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs164251	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs1820056	0.87[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs182987	0.86[EUR][1000 genomes]
rs2431548	0.86[EUR][1000 genomes]
rs2434665	0.87[CEU][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs255856	0.81[JPT][hapmap]
rs26985	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs27566	0.81[JPT][hapmap]
rs2910018	0.87[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2914200	0.88[AMR][1000 genomes]
rs348933	0.86[EUR][1000 genomes]
rs3763139	0.83[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3857437	0.87[CHB][hapmap]
rs3936062	0.87[CEU][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs423089	0.83[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap]
rs4235796	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4415069	0.87[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4438867	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4444963	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs459428	0.83[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs461034	0.83[CEU][hapmap]
rs463216	0.83[CEU][hapmap]
rs4639215	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs465898	0.83[CEU][hapmap]
rs466564	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs4705830	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4705831	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57617774	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59958489	0.83[AMR][1000 genomes]
rs62373764	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6594736	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66534827	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs675353	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs6881976	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6886338	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7702120	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs7702405	0.88[EUR][1000 genomes]
rs7703233	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7713378	0.81[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9326895	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9552	0.86[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9885084	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];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	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv520674	chr5:112911165-112942820	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:112899400-112929400	Weak transcription	HepG2	liver
5	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
6	chr5:112907400-112932000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:112910600-112927000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:112910600-112927600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:112910600-112927800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:112910600-112933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:112910600-112935200	Weak transcription	Spleen	Spleen
13	chr5:112910600-112935400	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:112910600-112936600	Weak transcription	Colonic Mucosa	Colon
15	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
16	chr5:112910800-112927600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:112910800-112928400	Weak transcription	A549	lung
18	chr5:112910800-112928600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:112910800-112929200	Weak transcription	Right Ventricle	heart
20	chr5:112910800-112929400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:112910800-112930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:112910800-112933600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:112910800-112933600	Weak transcription	Fetal Stomach	stomach
24	chr5:112910800-112934600	Weak transcription	Gastric	stomach
25	chr5:112910800-112935000	Weak transcription	Pancreas	Pancrea
26	chr5:112910800-112935200	Weak transcription	Esophagus	oesophagus
27	chr5:112910800-112937400	Weak transcription	Fetal Intestine Small	intestine
28	chr5:112910800-112938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:112911000-112930000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:112911200-112929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:112916000-112931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:112916400-112929200	Weak transcription	Lung	lung
34	chr5:112916400-112930400	Weak transcription	NHLF	lung
35	chr5:112916400-112933000	Weak transcription	Thymus	Thymus
36	chr5:112916400-112933400	Weak transcription	Aorta	Aorta
37	chr5:112916800-112928600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:112916800-112928600	Weak transcription	NH-A	brain
39	chr5:112916800-112936000	Weak transcription	Fetal Heart	heart
40	chr5:112917200-112942000	Weak transcription	K562	blood
41	chr5:112917400-112927400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr5:112917400-112927400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:112917400-112928800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:112917400-112929600	Weak transcription	Fetal Brain Male	brain
45	chr5:112917400-112937600	Weak transcription	HSMMtube	muscle
46	chr5:112917800-112933400	Weak transcription	Brain Angular Gyrus	brain
47	chr5:112918000-112927000	Weak transcription	GM12878-XiMat	blood
48	chr5:112918000-112927800	Weak transcription	Fetal Kidney	kidney
49	chr5:112918000-112933600	Weak transcription	Hela-S3	cervix
50	chr5:112918000-112939000	Weak transcription	NHEK	skin

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