Variant report

Variant	rs1371687
Chromosome Location	chr3:98604990-98604991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98603129..98605269-chr3:98618566..98620834,2	MCF-7	breast:
2	chr3:98603937..98606892-chr3:98607336..98610177,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000057019	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10935513	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10935514	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10935587	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1095911	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12632798	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12636683	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12695786	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13071075	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13081543	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13316760	0.83[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13319666	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1383906	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1383907	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2128052	0.83[AFR][1000 genomes]
rs2333923	0.81[AMR][1000 genomes]
rs2340794	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2439237	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs2449046	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2470873	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2470877	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2470878	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2470880	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs278376	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs278379	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs278380	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs278381	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs278382	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs278387	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs278388	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs278390	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs35483904	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35760367	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35936923	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4546099	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4577404	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4857415	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6767370	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6774875	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs6791389	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7615628	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7615856	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs828603	0.84[EUR][1000 genomes]
rs828605	1.00[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs828610	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs828614	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs828616	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs828617	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs828618	0.84[CEU][hapmap]
rs828621	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs852701	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8833	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs955351	0.88[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9682876	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9837206	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9842522	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9880179	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription 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	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1009032	chr3:98514221-98607721	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	esv3441569	chr3:98585311-98607020	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1371687	DCBLD2	cis	Skin Sun Exposed Lower leg	GTEx
rs1371687	DCBLD2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98583400-98611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:98584400-98607200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:98589400-98609200	Weak transcription	Fetal Intestine Large	intestine
4	chr3:98590000-98609600	Weak transcription	Brain Anterior Caudate	brain
5	chr3:98593800-98619400	Weak transcription	Small Intestine	intestine
6	chr3:98594400-98616600	Weak transcription	Fetal Brain Male	brain
7	chr3:98595200-98608800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:98596200-98606600	Weak transcription	HepG2	liver
9	chr3:98597000-98609000	Weak transcription	Right Ventricle	heart
10	chr3:98597400-98619000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:98598200-98608400	Weak transcription	Fetal Intestine Small	intestine
12	chr3:98599200-98609400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:98599800-98609000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:98599800-98618400	Weak transcription	Fetal Brain Female	brain
15	chr3:98600000-98609600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:98600600-98607200	Weak transcription	Brain Angular Gyrus	brain
17	chr3:98600600-98611200	Weak transcription	Liver	Liver
18	chr3:98600600-98613000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:98600600-98618000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr3:98600600-98618000	Weak transcription	Fetal Thymus	thymus
21	chr3:98602200-98605000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:98602200-98608600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:98602200-98613600	Genic enhancers	HSMM	muscle
24	chr3:98602400-98613600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:98602600-98605400	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:98602800-98605400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:98603000-98605600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:98603200-98605600	Enhancers	Colon Smooth Muscle	Colon
29	chr3:98603200-98612600	Genic enhancers	NHEK	skin
30	chr3:98603400-98605400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:98603400-98605600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:98603400-98606400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:98603400-98606400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:98603400-98607600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:98603600-98605000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr3:98603600-98605600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr3:98603600-98606200	Enhancers	Adipose Nuclei	Adipose
38	chr3:98603600-98608000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:98603800-98605400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:98603800-98605400	Enhancers	Fetal Lung	lung
41	chr3:98603800-98605400	Enhancers	HSMMtube	muscle
42	chr3:98603800-98607200	Weak transcription	Brain Substantia Nigra	brain
43	chr3:98603800-98608000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr3:98604000-98605000	Enhancers	Fetal Stomach	stomach
45	chr3:98604000-98605400	Enhancers	K562	blood
46	chr3:98604000-98606000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr3:98604000-98606200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:98604000-98608400	Enhancers	HUVEC	blood vessel
49	chr3:98604000-98613000	Enhancers	NHLF	lung
50	chr3:98604200-98605000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin

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