Variant report

Variant	rs447721
Chromosome Location	chr2:7150330-7150331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:7147550..7151799-chr2:7153014..7155237,5	MCF-7	breast:
2	chr2:7004114..7006804-chr2:7149495..7151595,2	K562	blood:
3	chr2:7148867..7150372-chr2:7158852..7161810,2	MCF-7	breast:
4	chr2:7142289..7146091-chr2:7146579..7150616,5	K562	blood:
5	chr2:7006003..7009208-chr2:7148136..7150396,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134326	Chromatin interaction
ENSG00000134321	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10495548	0.91[LWK][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs10495549	0.89[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10929458	0.81[AFR][1000 genomes]
rs11679967	0.86[JPT][hapmap]
rs11689450	0.86[JPT][hapmap]
rs11691419	0.86[JPT][hapmap]
rs11898648	0.83[AFR][1000 genomes]
rs12465410	0.82[AFR][1000 genomes]
rs13019196	0.86[JPT][hapmap]
rs13030643	0.86[JPT][hapmap]
rs13398488	0.82[AFR][1000 genomes]
rs13418719	0.83[AFR][1000 genomes]
rs2292931	0.91[LWK][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs2460402	0.87[EUR][1000 genomes]
rs2460404	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2460405	0.88[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2680762	0.88[EUR][1000 genomes]
rs309314	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309317	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309319	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309321	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309322	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309326	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs309327	0.87[EUR][1000 genomes]
rs367906	0.86[JPT][hapmap]
rs369808	0.86[JPT][hapmap]
rs3755509	0.82[AFR][1000 genomes]
rs381214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3821334	0.86[JPT][hapmap]
rs3821335	0.86[JPT][hapmap]
rs388773	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs389351	0.86[JPT][hapmap]
rs414941	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs415204	0.86[JPT][hapmap]
rs416411	0.87[EUR][1000 genomes]
rs417883	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs426614	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs438627	1.00[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs443649	0.87[EUR][1000 genomes]
rs443852	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6712731	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6741819	0.93[LWK][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs72781779	0.83[AFR][1000 genomes]
rs771267	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs447721	RNF144A	cis	cerebellum	SCAN
rs447721	RNF144A	cis	parietal	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:7124000-7157600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:7127200-7154000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:7131000-7167600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:7131400-7162400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:7131600-7154200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:7131600-7154200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:7133800-7150800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:7137400-7160200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:7141800-7151200	Strong transcription	Primary T cells from cord blood	blood
11	chr2:7142600-7163000	Weak transcription	Small Intestine	intestine
12	chr2:7143800-7150400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:7144200-7154600	Weak transcription	HepG2	liver
14	chr2:7144400-7150400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:7145000-7150600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:7145200-7156200	Enhancers	Brain Angular Gyrus	brain
17	chr2:7146400-7151200	Enhancers	Left Ventricle	heart
18	chr2:7146400-7153000	Enhancers	Right Ventricle	heart
19	chr2:7146600-7152800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:7146800-7150600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:7146800-7151200	Enhancers	Pancreas	Pancrea
22	chr2:7146800-7151200	Enhancers	Psoas Muscle	Psoas
23	chr2:7146800-7156000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:7147000-7154800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:7147200-7158600	Enhancers	Colon Smooth Muscle	Colon
26	chr2:7147400-7150800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:7147400-7151000	Enhancers	Fetal Thymus	thymus
28	chr2:7147400-7151200	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:7147400-7151800	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:7147400-7152200	Enhancers	NH-A	brain
31	chr2:7147400-7154000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:7147400-7156000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:7147400-7157000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:7147400-7159200	Weak transcription	Thymus	Thymus
35	chr2:7147600-7150600	Enhancers	Duodenum Mucosa	Duodenum
36	chr2:7147600-7155600	Enhancers	NHDF-Ad	bronchial
37	chr2:7148000-7150800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:7148000-7153800	Weak transcription	Fetal Kidney	kidney
39	chr2:7148000-7154000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr2:7148000-7155800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:7148200-7152000	Enhancers	Fetal Stomach	stomach
42	chr2:7148200-7152600	Strong transcription	Dnd41	blood
43	chr2:7148200-7154000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:7148200-7154000	Weak transcription	Fetal Brain Male	brain
45	chr2:7148200-7156000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr2:7148200-7159400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:7148200-7172600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:7148600-7150600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:7148600-7151000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:7148600-7151200	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links