Variant report

Variant	rs4897473
Chromosome Location	chr6:131215271-131215272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs13437326	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs1413755	0.80[EUR][1000 genomes]
rs17180687	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.82[TSI][hapmap]
rs17770255	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17784418	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs17785507	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs1811949	0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs2095961	1.00[JPT][hapmap]
rs2183967	0.96[CEU][hapmap]
rs2297853	1.00[JPT][hapmap]
rs28482889	0.92[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs3777434	0.96[CEU][hapmap];0.86[TSI][hapmap]
rs3777435	0.96[CEU][hapmap];0.86[TSI][hapmap]
rs3777436	0.96[CEU][hapmap]
rs3777440	0.90[MKK][hapmap]
rs3777442	0.86[MKK][hapmap]
rs3777461	0.90[MKK][hapmap]
rs3777466	0.88[MKK][hapmap]
rs3822863	0.86[MKK][hapmap]
rs4895901	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4895903	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs4895907	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4895908	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4897468	0.92[CEU][hapmap]
rs4897477	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4897484	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap]
rs4897485	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs6569707	0.96[CEU][hapmap]
rs6569708	0.92[CEU][hapmap];0.86[TSI][hapmap]
rs6906478	0.92[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs6918160	0.80[EUR][1000 genomes]
rs6919007	0.92[CEU][hapmap]
rs6921396	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6922045	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6922177	1.00[JPT][hapmap]
rs6926250	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs6928920	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6931804	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6935108	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs6938552	0.80[EUR][1000 genomes]
rs7741148	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7760965	0.92[CEU][hapmap]
rs7761311	1.00[JPT][hapmap]
rs7769678	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7775013	0.96[CEU][hapmap];0.86[TSI][hapmap]
rs872576	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs9321263	1.00[JPT][hapmap]
rs9372985	1.00[JPT][hapmap]
rs9385568	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9388861	1.00[CEU][hapmap]
rs9388863	0.96[CEU][hapmap]
rs9402292	0.88[CEU][hapmap];0.84[TSI][hapmap]
rs9402299	0.86[MKK][hapmap]
rs942	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs9483206	1.00[JPT][hapmap]
rs954211	0.92[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4897473	EPB41L2	cis	parietal	SCAN
rs4897473	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL
rs4897473	ARG1	cis	cerebellum	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131151600-131216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:131159000-131229000	Weak transcription	Colonic Mucosa	Colon
3	chr6:131170400-131217400	Weak transcription	Psoas Muscle	Psoas
4	chr6:131171200-131223200	Weak transcription	Right Ventricle	heart
5	chr6:131171400-131220200	Weak transcription	Fetal Brain Male	brain
6	chr6:131175000-131222400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:131175600-131221600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:131179400-131222400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:131187000-131223200	Weak transcription	Gastric	stomach
10	chr6:131187200-131216400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:131188200-131216400	Weak transcription	HSMMtube	muscle
12	chr6:131190400-131227000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:131190800-131224200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:131191000-131234400	Weak transcription	Esophagus	oesophagus
15	chr6:131191200-131224200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:131191200-131233000	Weak transcription	Spleen	Spleen
17	chr6:131194200-131222000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:131195800-131224200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:131198600-131224200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:131201000-131222400	Strong transcription	Dnd41	blood
21	chr6:131201800-131222000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:131203600-131234200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:131204400-131228600	Weak transcription	Stomach Mucosa	stomach
24	chr6:131205200-131222000	Weak transcription	A549	lung
25	chr6:131208000-131222000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:131209000-131234000	Weak transcription	Fetal Thymus	thymus
27	chr6:131209200-131219600	Weak transcription	Fetal Heart	heart
28	chr6:131209600-131222000	Weak transcription	HMEC	breast
29	chr6:131209800-131217000	Weak transcription	Brain Substantia Nigra	brain
30	chr6:131209800-131228000	Weak transcription	HUVEC	blood vessel
31	chr6:131210600-131217800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:131210800-131222400	Strong transcription	HepG2	liver
33	chr6:131211000-131228400	Weak transcription	Small Intestine	intestine
34	chr6:131211200-131222000	Weak transcription	NHEK	skin
35	chr6:131211200-131234000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:131211400-131224000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:131211400-131234200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr6:131211600-131219600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr6:131211800-131219600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:131212000-131224600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr6:131212200-131220200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:131212200-131221800	Weak transcription	NH-A	brain
43	chr6:131212200-131222000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:131212600-131215800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:131212600-131218200	Strong transcription	Fetal Intestine Large	intestine
46	chr6:131212800-131216400	Strong transcription	Adipose Nuclei	Adipose
47	chr6:131212800-131216800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:131212800-131217000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr6:131213000-131215600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:131213200-131215400	Strong transcription	Aorta	Aorta

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