Variant report

Variant	rs6931804
Chromosome Location	chr6:131245380-131245381
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	chr6:131245188..131247804-chr6:131249935..131252148,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs12525986	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13437326	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17178878	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17179123	0.80[AMR][1000 genomes]
rs17180687	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17770255	0.96[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17784418	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17784472	0.80[AMR][1000 genomes]
rs17785507	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1811949	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2095961	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2183967	0.93[CEU][hapmap]
rs2297853	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28482889	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs34899420	0.80[AMR][1000 genomes]
rs3777434	0.92[CEU][hapmap]
rs3777435	0.92[CEU][hapmap]
rs3777436	0.92[CEU][hapmap]
rs4895901	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4895903	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4895907	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4895908	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4897468	0.89[CEU][hapmap]
rs4897473	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]
rs4897477	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4897478	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4897484	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs4897485	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs56173113	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62423581	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6569707	0.93[CEU][hapmap]
rs6569708	0.89[CEU][hapmap]
rs6906059	0.80[AMR][1000 genomes]
rs6906478	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6919007	0.89[CEU][hapmap]
rs6921396	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6922045	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6922177	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6926250	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs6928920	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs6935108	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7741148	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7755720	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7760965	0.89[CEU][hapmap]
rs7761311	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7769678	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7775013	0.92[CEU][hapmap]
rs872576	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9321263	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9372985	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9385568	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9388861	0.95[CEU][hapmap]
rs9388863	0.93[CEU][hapmap]
rs9402292	0.85[CEU][hapmap]
rs942	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9483206	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs954211	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6931804	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131220600-131281200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:131222200-131248400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:131222200-131251800	Weak transcription	Primary B cells from cord blood	blood
4	chr6:131222400-131248600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:131228800-131245800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:131229600-131245400	Weak transcription	NHLF	lung
7	chr6:131229600-131248600	Weak transcription	Stomach Mucosa	stomach
8	chr6:131229600-131249600	Weak transcription	Osteobl	bone
9	chr6:131234000-131250200	Weak transcription	Ovary	ovary
10	chr6:131234000-131250600	Weak transcription	Fetal Stomach	stomach
11	chr6:131234600-131248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:131234600-131249400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:131234600-131250200	Weak transcription	Pancreas	Pancrea
14	chr6:131234800-131246800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:131234800-131247200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:131234800-131254000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:131234800-131266600	Weak transcription	GM12878-XiMat	blood
18	chr6:131236400-131254000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:131238400-131248800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:131238400-131249800	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:131238400-131250200	Weak transcription	Aorta	Aorta
22	chr6:131239200-131252600	Weak transcription	Dnd41	blood
23	chr6:131240000-131253600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:131242200-131249600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:131242400-131247600	Strong transcription	HepG2	liver
26	chr6:131242600-131254800	Weak transcription	Fetal Kidney	kidney
27	chr6:131242800-131247200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:131242800-131255000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:131244000-131248000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:131244200-131246200	Strong transcription	Fetal Lung	lung
31	chr6:131244200-131249400	Weak transcription	NHDF-Ad	bronchial
32	chr6:131244200-131250000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:131244200-131279000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:131244600-131245400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:131244600-131246800	Weak transcription	Brain Anterior Caudate	brain
36	chr6:131244800-131245400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:131244800-131245400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:131244800-131249800	Weak transcription	HSMMtube	muscle
39	chr6:131244800-131255000	Weak transcription	Lung	lung
40	chr6:131245000-131246200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr6:131245000-131246800	Weak transcription	Brain Substantia Nigra	brain
42	chr6:131245000-131247600	Strong transcription	HSMM	muscle
43	chr6:131245000-131248600	Weak transcription	Fetal Muscle Leg	muscle
44	chr6:131245000-131248600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:131245000-131249400	Weak transcription	Small Intestine	intestine
46	chr6:131245000-131249600	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:131245000-131254000	Weak transcription	Left Ventricle	heart
48	chr6:131245000-131254800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:131245200-131247600	Strong transcription	Adipose Nuclei	Adipose

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