Variant report

Variant	rs12507206
Chromosome Location	chr4:48422762-48422763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48413445..48415846-chr4:48421918..48423637,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10003230	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10026398	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10029785	0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs10805168	0.84[ASN][1000 genomes]
rs10938534	0.81[JPT][hapmap]
rs1117010	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11731383	0.81[ASN][1000 genomes]
rs11945562	0.86[JPT][hapmap]
rs12503644	0.94[ASN][1000 genomes]
rs12511991	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12645951	0.87[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12649527	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12649528	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13105385	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13115295	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133788	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13148849	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13150017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1352433	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1352434	0.84[ASN][1000 genomes]
rs1472967	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs1488647	0.81[ASN][1000 genomes]
rs1507865	0.81[JPT][hapmap]
rs1586540	0.87[ASN][1000 genomes]
rs1703973	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1948167	0.87[ASN][1000 genomes]
rs2029348	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2291474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291475	0.88[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2353312	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2353314	0.84[ASN][1000 genomes]
rs2353315	0.91[ASN][1000 genomes]
rs2353855	0.81[ASN][1000 genomes]
rs28409655	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28470767	0.81[JPT][hapmap]
rs34975258	0.91[ASN][1000 genomes]
rs35758434	0.87[ASN][1000 genomes]
rs368609	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs372825	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3828496	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs392187	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs403495	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs404348	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs404445	0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs404656	0.80[ASN][1000 genomes]
rs411261	0.82[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs421336	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs421833	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs429969	0.80[ASN][1000 genomes]
rs432927	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs445892	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs449376	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs450498	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4536901	0.81[JPT][hapmap]
rs4694895	0.87[ASN][1000 genomes]
rs4695377	0.81[ASN][1000 genomes]
rs4695391	0.81[JPT][hapmap]
rs62309425	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62309455	0.80[ASN][1000 genomes]
rs62309458	0.81[ASN][1000 genomes]
rs6447634	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6447635	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6816010	0.87[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6816352	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6821277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6829705	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6829716	0.86[JPT][hapmap]
rs6834339	0.81[ASN][1000 genomes]
rs6836010	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6836632	0.86[JPT][hapmap]
rs6837335	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6838613	0.82[ASN][1000 genomes]
rs6843340	0.81[JPT][hapmap]
rs6844211	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6848073	0.88[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6848395	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7438704	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7654770	0.86[JPT][hapmap]
rs7668529	0.81[EUR][1000 genomes]
rs7672892	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7674269	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7678164	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7678379	0.86[JPT][hapmap]
rs7697851	0.86[JPT][hapmap]
rs923372	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs923373	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9291323	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs937888	0.81[JPT][hapmap]
rs974014	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs974015	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs974016	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs992423	0.86[JPT][hapmap]
rs9996532	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12507206	SLAIN2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48372600-48426800	Weak transcription	Small Intestine	intestine
2	chr4:48377800-48423800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:48378000-48423800	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:48382200-48431800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:48387400-48424800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:48387600-48431400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:48387800-48424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:48391000-48424800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:48391200-48423200	Weak transcription	NHLF	lung
10	chr4:48391200-48424600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:48391600-48434000	Weak transcription	Fetal Heart	heart
12	chr4:48395600-48424800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:48397000-48424800	Weak transcription	Stomach Mucosa	stomach
14	chr4:48397400-48424000	Weak transcription	HUVEC	blood vessel
15	chr4:48398800-48423200	Weak transcription	GM12878-XiMat	blood
16	chr4:48399000-48423800	Weak transcription	NH-A	brain
17	chr4:48399000-48423800	Weak transcription	NHDF-Ad	bronchial
18	chr4:48399200-48426000	Weak transcription	A549	lung
19	chr4:48399800-48424400	Weak transcription	Brain Anterior Caudate	brain
20	chr4:48400000-48431000	Weak transcription	Brain Angular Gyrus	brain
21	chr4:48400200-48423200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:48400200-48426600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:48404800-48423600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:48406000-48423800	Weak transcription	Fetal Brain Female	brain
25	chr4:48406000-48424600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr4:48406000-48424600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:48406200-48433200	Weak transcription	NHEK	skin
28	chr4:48411200-48423000	Weak transcription	Hela-S3	cervix
29	chr4:48411800-48424000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:48413000-48423600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:48413000-48423600	Weak transcription	Fetal Brain Male	brain
32	chr4:48413000-48425000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:48413200-48423600	Weak transcription	HSMMtube	muscle
34	chr4:48413200-48424000	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:48413200-48424800	Weak transcription	Fetal Kidney	kidney
36	chr4:48413200-48427200	Weak transcription	Spleen	Spleen
37	chr4:48413200-48430000	Weak transcription	Aorta	Aorta
38	chr4:48413200-48431800	Weak transcription	Brain Substantia Nigra	brain
39	chr4:48413400-48423200	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:48413400-48423600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr4:48413400-48431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:48414200-48423600	Weak transcription	HSMM	muscle
43	chr4:48414400-48424000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:48420400-48423600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:48420400-48423600	Weak transcription	HMEC	breast
46	chr4:48420400-48423800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:48420400-48424000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:48420600-48423800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr4:48420600-48426600	Strong transcription	Primary T cells from cord blood	blood
50	chr4:48420800-48426200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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