Variant report

Variant	rs2347597
Chromosome Location	chr5:151181318-151181319
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	chr5:151180503..151182254-chr5:151190723..151193684,2	MCF-7	breast:
2	chr5:151172174..151173682-chr5:151179743..151182489,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10044368	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];0.99[ASN][1000 genomes]
rs10065313	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10075101	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10075210	0.85[ASW][hapmap]
rs1042877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476776	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10476778	0.96[EUR][1000 genomes]
rs1062177	0.94[CHB][hapmap];0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs11167557	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11954338	0.97[EUR][1000 genomes]
rs12108921	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs12109022	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12654877	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12658422	0.95[EUR][1000 genomes]
rs1433041	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];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549920	0.94[CHB][hapmap];0.84[CHD][hapmap];0.81[ASN][1000 genomes]
rs1549921	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17741826	0.94[CHB][hapmap]
rs17804178	0.85[ASN][1000 genomes]
rs1978710	0.89[AMR][1000 genomes];0.90[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]
rs2913889	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
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]
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];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs2915816	0.87[ASN][1000 genomes]
rs2915821	0.84[ASN][1000 genomes]
rs2915822	0.94[CHB][hapmap];0.84[CHD][hapmap];0.81[ASN][1000 genomes]
rs2915823	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2915824	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915826	0.94[CHB][hapmap]
rs2915827	0.94[CHB][hapmap]
rs2915829	0.90[AMR][1000 genomes];0.88[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];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915869	0.85[ASN][1000 genomes]
rs2915870	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915871	0.90[AMR][1000 genomes];0.88[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];0.91[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2915873	0.82[ASN][1000 genomes]
rs2915874	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915876	0.94[CHB][hapmap];0.84[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	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915885	0.87[AMR][1000 genomes];0.97[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];0.90[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.98[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];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915890	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915891	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915892	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915893	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915894	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964568	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2964569	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964571	0.85[ASN][1000 genomes]
rs2964572	0.88[AMR][1000 genomes];0.96[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	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2964578	0.81[ASN][1000 genomes]
rs2964580	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2964581	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2964582	0.81[ASN][1000 genomes]
rs2964584	0.94[CHB][hapmap];0.84[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]
rs2964610	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2964611	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2964612	0.83[ASN][1000 genomes]
rs2964613	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35692301	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4360031	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4362933	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4379180	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4419575	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4472253	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4510568	0.97[EUR][1000 genomes]
rs4541649	0.96[EUR][1000 genomes]
rs4555782	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4571461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4594844	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4629583	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4629586	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62394144	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6579897	0.94[CHB][hapmap]
rs6579906	0.96[EUR][1000 genomes]
rs6579908	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6579909	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6579910	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6863833	0.95[EUR][1000 genomes]
rs6863837	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6879461	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802204	0.85[ASN][1000 genomes]
rs7341167	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7702751	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7715560	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7715874	0.92[EUR][1000 genomes]
rs7719617	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs7720579	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728956	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7733241	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7734314	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735811	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs892005	0.85[ASN][1000 genomes]
rs892006	0.94[CHB][hapmap];0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs973529	0.85[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2347597	C5orf46	cis	parietal	SCAN
rs2347597	SYNPO	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151164000-151187800	Weak transcription	Stomach Mucosa	stomach
2	chr5:151164000-151196600	Strong transcription	Hela-S3	cervix
3	chr5:151164000-151207600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:151164400-151189400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:151164400-151194800	Strong transcription	Dnd41	blood
6	chr5:151164600-151197000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:151164800-151196600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:151164800-151196800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:151165200-151197200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:151165600-151191600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:151165600-151197200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:151165800-151182000	Strong transcription	Primary hematopoietic stem cells	blood
13	chr5:151165800-151184400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:151165800-151188200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr5:151165800-151192800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:151165800-151193000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:151165800-151194800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr5:151165800-151195000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:151165800-151196200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:151165800-151196800	Strong transcription	GM12878-XiMat	blood
21	chr5:151165800-151197000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:151166000-151183800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:151166000-151184000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:151166000-151184000	Strong transcription	NH-A	brain
25	chr5:151166000-151184400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:151166000-151184400	Strong transcription	Placenta	Placenta
27	chr5:151166000-151185000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:151166000-151185800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:151166000-151186000	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr5:151166000-151187200	Strong transcription	NHEK	skin
31	chr5:151166000-151192800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:151166000-151194800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:151166000-151196400	Strong transcription	Fetal Thymus	thymus
34	chr5:151166000-151196600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr5:151166000-151196800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:151166000-151197000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:151166200-151184000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:151166200-151184400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:151166200-151184800	Strong transcription	Adipose Nuclei	Adipose
40	chr5:151166200-151185000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:151166200-151185000	Strong transcription	HSMM	muscle
42	chr5:151166200-151186600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:151166200-151192800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr5:151166200-151196800	Strong transcription	Liver	Liver
45	chr5:151166400-151186400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:151166400-151192400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr5:151166600-151194800	Strong transcription	Fetal Intestine Large	intestine
48	chr5:151166800-151183800	Strong transcription	Colonic Mucosa	Colon
49	chr5:151166800-151184000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:151167200-151183800	Strong transcription	Fetal Muscle Leg	muscle

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