Variant report

Variant	rs3903981
Chromosome Location	chr1:180615288-180615289
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	chr1:180613241..180615930-chr1:180622558..180625291,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10157637	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737349	0.93[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331546	1.00[ASN][1000 genomes]
rs2331753	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap]
rs2944259	0.92[MEX][hapmap]
rs3002116	1.00[LWK][hapmap]
rs3903980	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3908502	0.93[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651074	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651075	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652524	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425648	0.93[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656378	1.00[CEU][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664826	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548318	0.92[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats 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	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180615800	Weak transcription	Lung	lung
2	chr1:180602000-180618800	Weak transcription	Pancreas	Pancrea
3	chr1:180602000-180645200	Weak transcription	Gastric	stomach
4	chr1:180603200-180615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:180603200-180616400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:180603200-180622400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:180603400-180615400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:180603400-180615600	Weak transcription	HUVEC	blood vessel
9	chr1:180603400-180617000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:180603400-180619400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:180603600-180626400	Weak transcription	Fetal Lung	lung
12	chr1:180604000-180623200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:180604800-180617000	Weak transcription	Dnd41	blood
14	chr1:180605600-180625800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:180605800-180622000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:180605800-180625000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:180606000-180618200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:180608200-180617000	Weak transcription	Fetal Intestine Large	intestine
19	chr1:180608600-180615600	Enhancers	Fetal Heart	heart
20	chr1:180609800-180625800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:180610000-180615400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:180610200-180617000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:180611200-180615400	Genic enhancers	K562	blood
24	chr1:180612800-180616200	Strong transcription	Primary T cells from cord blood	blood
25	chr1:180612800-180626400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:180613000-180623000	Weak transcription	Brain Anterior Caudate	brain
27	chr1:180613200-180616200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:180613200-180617200	Weak transcription	A549	lung
29	chr1:180613200-180632600	Weak transcription	Aorta	Aorta
30	chr1:180613400-180616200	Weak transcription	Brain Substantia Nigra	brain
31	chr1:180613400-180616200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr1:180613400-180616800	Weak transcription	HSMMtube	muscle
33	chr1:180613400-180617800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:180613400-180617800	Weak transcription	Fetal Brain Female	brain
35	chr1:180613400-180621800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:180613400-180626400	Weak transcription	Adipose Nuclei	Adipose
37	chr1:180613400-180626600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:180614000-180616800	Enhancers	Left Ventricle	heart
39	chr1:180614400-180615600	Strong transcription	Primary B cells from cord blood	blood
40	chr1:180614400-180616200	Weak transcription	Right Atrium	heart
41	chr1:180614600-180616600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:180614800-180615400	Enhancers	Small Intestine	intestine
43	chr1:180614800-180616000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr1:180614800-180616000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:180614800-180616000	Weak transcription	Right Ventricle	heart
46	chr1:180614800-180616000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr1:180615000-180615400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:180615000-180615800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:180615000-180616400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:180615000-180616400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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