Variant report

Variant	rs804142
Chromosome Location	chr5:115694274-115694275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115693595..115697814-chr5:115698835..115703078,5	K562	blood:
2	chr5:115692236..115694986-chr5:115697167..115699493,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10044332	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1090076	1.00[JPT][hapmap]
rs11241386	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12653124	0.89[CEU][hapmap];0.82[YRI][hapmap]
rs12654057	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12656608	0.86[ASN][1000 genomes]
rs1351136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1351137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1508874	0.89[CEU][hapmap];0.80[CHD][hapmap];1.00[YRI][hapmap]
rs153591	0.81[ASN][1000 genomes]
rs153614	0.80[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs168833	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs17139649	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17139652	0.86[ASN][1000 genomes]
rs187591	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs194182	0.89[CEU][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap]
rs1991446	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs253953	0.89[ASN][1000 genomes]
rs253956	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs253960	0.89[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap]
rs254149	0.81[JPT][hapmap]
rs254154	0.81[ASN][1000 genomes]
rs27499	0.81[ASN][1000 genomes]
rs27500	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28125	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs37182	0.89[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap]
rs37183	0.83[CHD][hapmap]
rs3844070	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs712580	0.81[ASN][1000 genomes]
rs72808983	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs784482	0.89[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs804141	0.88[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]

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	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2763489	chr5:115693166-115733327	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115680600-115695800	Weak transcription	Ovary	ovary
2	chr5:115684400-115694400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:115684400-115705800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:115684800-115697800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr5:115685000-115721400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr5:115685200-115696800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:115686400-115697000	Weak transcription	Fetal Lung	lung
8	chr5:115686600-115697400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:115687200-115706400	Weak transcription	Liver	Liver
10	chr5:115687800-115696800	Weak transcription	Pancreas	Pancrea
11	chr5:115687800-115697000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:115688000-115696800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:115688600-115695000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:115688600-115696600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:115690000-115697600	Weak transcription	Primary T cells from cord blood	blood
16	chr5:115691800-115695000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:115692200-115694400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:115692800-115695800	Enhancers	Fetal Heart	heart
19	chr5:115693000-115695400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:115693200-115695600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr5:115693200-115696800	Weak transcription	Fetal Intestine Small	intestine
22	chr5:115693400-115696600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:115693400-115697000	Enhancers	Fetal Muscle Leg	muscle
24	chr5:115693600-115696800	Enhancers	Right Ventricle	heart
25	chr5:115693800-115694600	Enhancers	Left Ventricle	heart
26	chr5:115693800-115694600	Enhancers	Psoas Muscle	Psoas
27	chr5:115693800-115695200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:115693800-115695200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:115693800-115695200	Enhancers	Stomach Smooth Muscle	stomach
30	chr5:115693800-115695200	Enhancers	K562	blood
31	chr5:115693800-115696000	Enhancers	Primary B cells from peripheral blood	blood
32	chr5:115693800-115696000	Enhancers	Right Atrium	heart
33	chr5:115693800-115696400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:115693800-115696800	Enhancers	Primary hematopoietic stem cells	blood
35	chr5:115694000-115694400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr5:115694000-115696000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr5:115694000-115696400	Enhancers	Primary B cells from cord blood	blood
38	chr5:115694000-115696600	Enhancers	Brain Angular Gyrus	brain
39	chr5:115694000-115696800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr5:115694200-115694400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr5:115694200-115694400	Enhancers	Spleen	Spleen
42	chr5:115694200-115695000	Flanking Active TSS	GM12878-XiMat	blood
43	chr5:115694200-115695200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr5:115694200-115696400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:115694200-115696400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr5:115694200-115696800	Enhancers	Primary monocytes fromperipheralblood	blood

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