Variant report

Variant	rs7720579
Chromosome Location	chr5:151198031-151198032
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	chr5:151157780..151160466-chr5:151195592..151198103,2	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10044368	1.00[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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10065313	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10075101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10078632	0.80[EUR][1000 genomes]
rs10079787	0.80[EUR][1000 genomes]
rs1042877	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];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10463320	0.80[EUR][1000 genomes]
rs10476776	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10476778	0.97[EUR][1000 genomes]
rs1062177	0.94[CHB][hapmap];0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs11167557	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11167559	0.80[EUR][1000 genomes]
rs11954338	0.98[EUR][1000 genomes]
rs12108921	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs12109022	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12109585	0.80[EUR][1000 genomes]
rs12654877	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12658422	0.96[EUR][1000 genomes]
rs1366238	0.81[EUR][1000 genomes]
rs1428159	0.80[EUR][1000 genomes]
rs1428160	0.80[EUR][1000 genomes]
rs1433041	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];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549920	0.94[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs1549921	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17741826	0.94[CHB][hapmap]
rs17804178	0.85[ASN][1000 genomes]
rs1978710	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2016409	0.81[ASN][1000 genomes]
rs2053063	0.85[ASN][1000 genomes]
rs2347596	0.85[ASN][1000 genomes]
rs2347597	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];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2913878	0.80[EUR][1000 genomes]
rs2913881	0.80[EUR][1000 genomes]
rs2913888	0.80[EUR][1000 genomes]
rs2913889	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs2913892	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs2913893	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2913894	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs2915816	0.87[ASN][1000 genomes]
rs2915821	0.84[ASN][1000 genomes]
rs2915822	0.94[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs2915823	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2915824	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915826	0.94[CHB][hapmap]
rs2915827	0.94[CHB][hapmap]
rs2915829	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2915868	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];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915869	0.85[ASN][1000 genomes]
rs2915870	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915871	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2915872	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2915873	0.82[ASN][1000 genomes]
rs2915874	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915876	0.94[CHB][hapmap];0.85[CHD][hapmap]
rs2915878	0.94[CHB][hapmap]
rs2915879	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs2915880	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs2915881	0.81[ASN][1000 genomes]
rs2915882	0.81[ASN][1000 genomes]
rs2915883	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915885	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2915886	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2915887	0.82[ASN][1000 genomes]
rs2915888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915890	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915891	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915892	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915893	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915894	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964568	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2964569	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964571	0.85[ASN][1000 genomes]
rs2964572	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964573	0.82[ASN][1000 genomes]
rs2964574	0.94[CHB][hapmap];0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs2964577	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2964578	0.81[ASN][1000 genomes]
rs2964580	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2964581	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2964582	0.81[ASN][1000 genomes]
rs2964584	0.94[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs2964585	0.82[ASN][1000 genomes]
rs2964587	0.94[CHB][hapmap]
rs2964591	0.94[CHB][hapmap]
rs2964592	0.94[CHB][hapmap]
rs2964597	0.80[EUR][1000 genomes]
rs2964599	0.80[EUR][1000 genomes]
rs2964601	0.80[EUR][1000 genomes]
rs2964604	0.80[EUR][1000 genomes]
rs2964606	0.80[EUR][1000 genomes]
rs2964610	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2964611	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2964612	0.83[ASN][1000 genomes]
rs2964613	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35692301	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3812003	0.83[ASW][hapmap]
rs4075273	0.80[EUR][1000 genomes]
rs4076138	0.80[EUR][1000 genomes]
rs4259159	0.80[EUR][1000 genomes]
rs4331885	0.80[EUR][1000 genomes]
rs4360031	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4362933	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4379180	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4419575	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4472253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4478307	0.80[EUR][1000 genomes]
rs4510568	0.98[EUR][1000 genomes]
rs4541649	0.97[EUR][1000 genomes]
rs4555782	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4571461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4594844	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4629583	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4629586	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62394144	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6579897	0.94[CHB][hapmap]
rs6579906	0.97[EUR][1000 genomes]
rs6579908	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6579909	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6579910	0.91[EUR][1000 genomes]
rs6863833	0.96[EUR][1000 genomes]
rs6863837	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6868371	0.80[EUR][1000 genomes]
rs6878691	0.80[EUR][1000 genomes]
rs6879461	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896518	0.80[EUR][1000 genomes]
rs72802204	0.85[ASN][1000 genomes]
rs72802219	0.80[EUR][1000 genomes]
rs7341167	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7702751	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7711609	0.80[EUR][1000 genomes]
rs7711771	0.80[EUR][1000 genomes]
rs7712779	0.80[EUR][1000 genomes]
rs7715560	0.91[EUR][1000 genomes]
rs7715874	0.93[EUR][1000 genomes]
rs7719617	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs7725327	0.80[EUR][1000 genomes]
rs7728956	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7729026	0.80[EUR][1000 genomes]
rs7733241	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7734314	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];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735811	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs892005	0.85[ASN][1000 genomes]
rs892006	0.94[CHB][hapmap];0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs9324712	0.80[EUR][1000 genomes]
rs9324714	0.80[EUR][1000 genomes]
rs973529	0.85[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7720579	C5orf46	cis	parietal	SCAN
rs7720579	SYNPO	cis	parietal	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151164000-151207600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:151171800-151205200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:151179000-151198600	Strong transcription	A549	lung
4	chr5:151179800-151208400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:151183000-151199600	Weak transcription	Small Intestine	intestine
6	chr5:151183600-151210600	Weak transcription	Lung	lung
7	chr5:151183800-151199600	Weak transcription	Fetal Intestine Small	intestine
8	chr5:151183800-151200200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:151183800-151203000	Weak transcription	Gastric	stomach
10	chr5:151183800-151204400	Weak transcription	Pancreas	Pancrea
11	chr5:151183800-151206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:151183800-151208400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:151183800-151209600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:151183800-151213400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:151184000-151200400	Weak transcription	Brain Angular Gyrus	brain
16	chr5:151188200-151210400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:151190000-151204800	Weak transcription	Fetal Stomach	stomach
18	chr5:151190400-151199600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:151190400-151210400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:151192200-151208200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:151192400-151198200	Weak transcription	Brain Germinal Matrix	brain
22	chr5:151192400-151205200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:151192400-151209800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr5:151192400-151210000	Weak transcription	Aorta	Aorta
25	chr5:151192400-151211200	Weak transcription	NHLF	lung
26	chr5:151192600-151198200	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr5:151192600-151200000	Weak transcription	Right Ventricle	heart
28	chr5:151192600-151205200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:151192600-151206000	Weak transcription	Thymus	Thymus
30	chr5:151192600-151206200	Weak transcription	Psoas Muscle	Psoas
31	chr5:151192600-151209800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:151192800-151198400	Weak transcription	Fetal Brain Female	brain
33	chr5:151192800-151199400	Weak transcription	Brain Substantia Nigra	brain
34	chr5:151192800-151199400	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:151192800-151199600	Weak transcription	Ovary	ovary
36	chr5:151192800-151204200	Weak transcription	Fetal Kidney	kidney
37	chr5:151192800-151205000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:151192800-151205200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:151192800-151208400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:151192800-151209600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:151192800-151209800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:151193000-151200200	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:151193000-151204400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:151193000-151205600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:151193000-151207600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr5:151193000-151210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:151193200-151202400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr5:151193200-151210600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:151193600-151211400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:151194200-151200000	Weak transcription	Adipose Nuclei	Adipose

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