Variant report

Variant	rs960763
Chromosome Location	chr12:4809207-4809208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10849118	0.82[CEU][hapmap]
rs11063307	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809178	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809919	0.85[EUR][1000 genomes]
rs12816272	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817218	1.00[ASN][1000 genomes]
rs12821116	1.00[ASN][1000 genomes]
rs12827952	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831221	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931649	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17701871	0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs2286579	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34205979	1.00[ASN][1000 genomes]
rs34214125	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34310347	0.84[EUR][1000 genomes]
rs34337517	1.00[ASN][1000 genomes]
rs34475613	1.00[ASN][1000 genomes]
rs34502100	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34765166	1.00[ASN][1000 genomes]
rs34947765	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34952740	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35016874	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35288424	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35464779	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35562639	1.00[ASN][1000 genomes]
rs35715089	0.90[EUR][1000 genomes]
rs35878255	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35899818	1.00[ASN][1000 genomes]
rs35925396	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766273	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5007510	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55760751	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59096706	1.00[ASN][1000 genomes]
rs59986414	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66703365	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67871557	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68144469	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459918	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038876	1.00[ASN][1000 genomes]
rs7306593	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs960763	AKAP3	cis	parietal	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4787800-4810800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:4792600-4809400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:4795000-4810000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:4797000-4811000	Weak transcription	Small Intestine	intestine
5	chr12:4797400-4809800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:4797400-4809800	Weak transcription	NH-A	brain
7	chr12:4797600-4809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:4797600-4809800	Weak transcription	Gastric	stomach
9	chr12:4797600-4809800	Weak transcription	Right Ventricle	heart
10	chr12:4797600-4809800	Weak transcription	NHLF	lung
11	chr12:4797600-4810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:4797600-4810800	Weak transcription	HepG2	liver
13	chr12:4797800-4809600	Weak transcription	Fetal Brain Male	brain
14	chr12:4797800-4809800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:4797800-4809800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:4797800-4810200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:4797800-4810600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:4798000-4809600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:4798000-4809800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:4798000-4809800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:4798000-4810000	Weak transcription	Ovary	ovary
22	chr12:4798000-4811400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:4798000-4813400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:4798000-4814200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:4798200-4810800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:4798400-4809800	Weak transcription	Adipose Nuclei	Adipose
27	chr12:4798400-4817200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:4799200-4809800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:4799400-4809800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:4799400-4809800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:4799400-4809800	Weak transcription	Aorta	Aorta
32	chr12:4799400-4810600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:4799400-4811000	Weak transcription	Spleen	Spleen
34	chr12:4799400-4811200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:4799400-4811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:4799400-4812000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:4799600-4809800	Weak transcription	Brain Anterior Caudate	brain
38	chr12:4799600-4811400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:4799600-4826800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:4799800-4810000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:4799800-4810800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:4799800-4811200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr12:4800200-4809800	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:4800200-4811200	Weak transcription	Fetal Intestine Small	intestine
45	chr12:4800400-4809400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr12:4800400-4809800	Weak transcription	Fetal Lung	lung
47	chr12:4800400-4812200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:4800600-4809800	Weak transcription	Fetal Brain Female	brain
49	chr12:4800800-4810600	Weak transcription	HSMM	muscle
50	chr12:4800800-4812000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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