Variant report

Variant	rs3731986
Chromosome Location	chr2:172216969-172216970
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	chr2:172211606..172213974-chr2:172215315..172217354,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10173812	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10195398	0.85[CHD][hapmap]
rs1125991	0.82[ASN][1000 genomes]
rs11674303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11685308	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs11695531	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1178014	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12327994	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12989804	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13023417	0.85[EUR][1000 genomes]
rs3731987	1.00[CEU][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60545517	0.82[ASN][1000 genomes]
rs6744452	0.96[CEU][hapmap];0.91[GIH][hapmap];0.94[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7349355	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs888521	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1003130	chr2:172189196-172237268	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3731986	CYBRD1	cis	parietal	SCAN
rs3731986	CDCA7	cis	cerebellum	SCAN
rs3731986	CYBRD1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172172800-172222400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:172181000-172221600	Weak transcription	K562	blood
3	chr2:172193600-172218200	Weak transcription	HepG2	liver
4	chr2:172203400-172217200	Weak transcription	Small Intestine	intestine
5	chr2:172203800-172218600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:172204600-172218600	Weak transcription	Ovary	ovary
7	chr2:172204800-172222400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:172205000-172217200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:172205000-172221400	Weak transcription	NHEK	skin
10	chr2:172205000-172221600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:172205000-172221800	Weak transcription	Osteobl	bone
12	chr2:172205000-172222400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:172205200-172218400	Weak transcription	Psoas Muscle	Psoas
14	chr2:172205200-172218400	Weak transcription	NHDF-Ad	bronchial
15	chr2:172205200-172221600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:172205200-172224000	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:172211000-172242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:172211800-172217000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:172212400-172221600	Weak transcription	HMEC	breast
20	chr2:172212400-172222400	Weak transcription	Aorta	Aorta
21	chr2:172212400-172231400	Weak transcription	Esophagus	oesophagus
22	chr2:172214200-172226000	Weak transcription	Left Ventricle	heart
23	chr2:172214400-172217200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:172214400-172222400	Weak transcription	A549	lung
25	chr2:172214600-172218200	Weak transcription	Primary B cells from cord blood	blood
26	chr2:172214800-172217200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:172214800-172217800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:172214800-172218800	Weak transcription	Fetal Intestine Small	intestine
29	chr2:172214800-172221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:172214800-172231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:172215000-172218400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:172215000-172218600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:172215000-172222400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:172215000-172223000	Weak transcription	Fetal Stomach	stomach
35	chr2:172215400-172231800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:172215800-172217000	Strong transcription	Dnd41	blood
37	chr2:172215800-172218200	Weak transcription	Hela-S3	cervix
38	chr2:172215800-172218400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:172215800-172218400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr2:172215800-172231000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:172216000-172218000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:172216000-172218400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:172216000-172218600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:172216000-172221400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:172216000-172222400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:172216200-172217200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:172216400-172217000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:172216400-172218800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:172216400-172222800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:172216400-172231400	Weak transcription	H1 Cell Line	embryonic stem cell

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