Variant report

Variant	rs364891
Chromosome Location	chr2:7137067-7137068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2444299	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2460401	0.88[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs309309	0.88[CEU][hapmap];0.84[GIH][hapmap];0.80[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs309316	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309318	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309320	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309324	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs3771997	0.81[MEX][hapmap]
rs388038	1.00[ASW][hapmap];0.94[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs397865	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs407427	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs407798	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs436955	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs441766	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs443363	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs454213	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73141632	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs771273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv978975	chr2:7136211-7137757	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs364891	RNF144A	cis	cerebellum	SCAN
rs364891	RNF144A	cis	parietal	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
2	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
4	chr2:7121200-7145400	Weak transcription	Thymus	Thymus
5	chr2:7121400-7148200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:7124000-7157600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:7126600-7147600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:7126800-7141800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:7126800-7148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:7127200-7154000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:7127600-7138800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:7127600-7143600	Weak transcription	HepG2	liver
13	chr2:7131000-7167600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:7131200-7141000	Strong transcription	Primary T cells from cord blood	blood
15	chr2:7131200-7146800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:7131400-7150200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:7131400-7162400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:7131600-7137200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:7131600-7137200	Enhancers	Brain Substantia Nigra	brain
20	chr2:7131600-7154200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:7131600-7154200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:7131800-7139000	Weak transcription	Fetal Thymus	thymus
23	chr2:7132600-7137400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:7132800-7146600	Weak transcription	Fetal Heart	heart
25	chr2:7133400-7147400	Weak transcription	Fetal Kidney	kidney
26	chr2:7133800-7137200	Enhancers	Brain Anterior Caudate	brain
27	chr2:7133800-7138600	Weak transcription	Ovary	ovary
28	chr2:7133800-7147400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:7133800-7147600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:7133800-7147800	Weak transcription	Fetal Brain Female	brain
31	chr2:7133800-7150800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:7134400-7140800	Strong transcription	Dnd41	blood
33	chr2:7134400-7147400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:7134600-7139000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:7134600-7139200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:7135000-7137200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:7135000-7138600	Weak transcription	Right Ventricle	heart
38	chr2:7135000-7138800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:7135000-7139000	Weak transcription	Primary B cells from cord blood	blood
40	chr2:7135000-7139200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:7135000-7146800	Weak transcription	Lung	lung
42	chr2:7135200-7138000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:7135200-7138400	Weak transcription	Fetal Lung	lung
44	chr2:7135200-7138400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:7135200-7138600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:7135200-7138600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:7135200-7139000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:7135200-7145400	Weak transcription	Fetal Brain Male	brain
49	chr2:7135400-7137800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:7135400-7138600	Weak transcription	Pancreas	Pancrea

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