Variant report

Variant	rs381214
Chromosome Location	chr2:7150654-7150655
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	chr2:7147550..7151799-chr2:7153014..7155237,5	MCF-7	breast:
2	chr2:7004114..7006804-chr2:7149495..7151595,2	K562	blood:

Variant related genes	Relation type
ENSG00000134321	Chromatin interaction
ENSG00000134326	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11679967	0.86[JPT][hapmap]
rs11689450	0.86[JPT][hapmap]
rs11691419	0.86[JPT][hapmap]
rs13019196	0.86[JPT][hapmap]
rs13030643	0.86[JPT][hapmap]
rs2460402	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2460404	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2460405	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2680762	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs309314	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309317	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309319	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309321	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs309322	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309326	0.91[CEU][hapmap];0.85[AFR][1000 genomes]
rs309327	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs367906	0.86[JPT][hapmap]
rs369808	0.86[JPT][hapmap]
rs3821334	0.86[JPT][hapmap]
rs3821335	0.86[JPT][hapmap]
rs388773	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389351	0.86[JPT][hapmap]
rs414941	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs415204	0.86[JPT][hapmap]
rs416411	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs417883	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs426614	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs438627	0.94[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];0.87[LWK][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs443649	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs443852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs445411	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447721	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]
rs4669126	0.86[YRI][hapmap]
rs6712731	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs771267	1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs381214	RNF144A	cis	cerebellum	SCAN
rs381214	RNF144A	cis	parietal	SCAN

Chromatin state (count:99 , 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	chr2:7144200-7154600	Weak transcription	HepG2	liver
13	chr2:7145200-7156200	Enhancers	Brain Angular Gyrus	brain
14	chr2:7146400-7151200	Enhancers	Left Ventricle	heart
15	chr2:7146400-7153000	Enhancers	Right Ventricle	heart
16	chr2:7146600-7152800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:7146800-7151200	Enhancers	Pancreas	Pancrea
18	chr2:7146800-7151200	Enhancers	Psoas Muscle	Psoas
19	chr2:7146800-7156000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:7147000-7154800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:7147200-7158600	Enhancers	Colon Smooth Muscle	Colon
22	chr2:7147400-7150800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:7147400-7151000	Enhancers	Fetal Thymus	thymus
24	chr2:7147400-7151200	Enhancers	Fetal Muscle Trunk	muscle
25	chr2:7147400-7151800	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:7147400-7152200	Enhancers	NH-A	brain
27	chr2:7147400-7154000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:7147400-7156000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:7147400-7157000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:7147400-7159200	Weak transcription	Thymus	Thymus
31	chr2:7147600-7155600	Enhancers	NHDF-Ad	bronchial
32	chr2:7148000-7150800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:7148000-7153800	Weak transcription	Fetal Kidney	kidney
34	chr2:7148000-7154000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:7148000-7155800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:7148200-7152000	Enhancers	Fetal Stomach	stomach
37	chr2:7148200-7152600	Strong transcription	Dnd41	blood
38	chr2:7148200-7154000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:7148200-7154000	Weak transcription	Fetal Brain Male	brain
40	chr2:7148200-7156000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:7148200-7159400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:7148200-7172600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:7148600-7151000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:7148600-7151200	Enhancers	Fetal Muscle Leg	muscle
45	chr2:7148600-7151800	Enhancers	Right Atrium	heart
46	chr2:7148600-7154400	Weak transcription	Primary B cells from cord blood	blood
47	chr2:7148800-7150800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr2:7148800-7151200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr2:7148800-7151200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:7148800-7152800	Enhancers	Adipose Nuclei	Adipose

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