Variant report

Variant	rs17059736
Chromosome Location	chr6:131190838-131190839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:131190692-131191130	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131184620..131188311-chr6:131189838..131191757,3	K562	blood:
2	chr6:131184648..131186965-chr6:131190453..131192235,2	K562	blood:

Variant related genes	Relation type
EPB41L2	TF binding region
ENSG00000079819	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10499177	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11969461	0.91[CHB][hapmap]
rs12527605	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12528626	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12529894	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12660135	0.91[ASN][1000 genomes]
rs12661651	0.92[CEU][hapmap];0.91[ASN][1000 genomes]
rs12663183	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs1332492	0.91[CHB][hapmap]
rs17059678	0.81[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.91[MKK][hapmap];0.93[ASN][1000 genomes]
rs17059852	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs17832366	0.84[CEU][hapmap]
rs1855078	0.91[CHB][hapmap]
rs2008593	0.84[CHB][hapmap]
rs2327006	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs3777452	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3798251	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4513821	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs67836126	0.93[ASN][1000 genomes]
rs6923182	0.91[CHB][hapmap]
rs6927047	0.82[CHB][hapmap]
rs6941909	0.90[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs72985722	0.82[ASN][1000 genomes]
rs72998266	0.95[ASN][1000 genomes]
rs73000206	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73000216	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73000246	1.00[ASN][1000 genomes]
rs73000272	1.00[ASN][1000 genomes]
rs915171	0.86[JPT][hapmap]
rs928592	1.00[JPT][hapmap]
rs9321258	1.00[ASN][1000 genomes]
rs9483193	1.00[ASN][1000 genomes]
rs9483194	1.00[ASN][1000 genomes]
rs9483195	1.00[ASN][1000 genomes]
rs9492759	1.00[ASN][1000 genomes]
rs9492762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9492763	1.00[ASN][1000 genomes]
rs9492768	0.89[ASN][1000 genomes]
rs9492776	0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs9492782	0.91[CHB][hapmap]
rs9492784	0.91[CHB][hapmap]
rs9492785	0.91[CHB][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17059736	EPB41L2	cis	parietal	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131149400-131213200	Weak transcription	Pancreas	Pancrea
2	chr6:131151600-131216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:131158200-131214400	Weak transcription	Lung	lung
4	chr6:131159000-131229000	Weak transcription	Colonic Mucosa	Colon
5	chr6:131168800-131214600	Weak transcription	Fetal Kidney	kidney
6	chr6:131170400-131193000	Weak transcription	Fetal Thymus	thymus
7	chr6:131170400-131217400	Weak transcription	Psoas Muscle	Psoas
8	chr6:131170600-131192600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:131170600-131193000	Weak transcription	Primary T cells from cord blood	blood
10	chr6:131170600-131213800	Weak transcription	GM12878-XiMat	blood
11	chr6:131171200-131209600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:131171200-131223200	Weak transcription	Right Ventricle	heart
13	chr6:131171400-131220200	Weak transcription	Fetal Brain Male	brain
14	chr6:131173000-131207000	Weak transcription	Brain Substantia Nigra	brain
15	chr6:131175000-131222400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr6:131175200-131214000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:131175400-131194200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:131175400-131203600	Weak transcription	A549	lung
19	chr6:131175400-131211200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:131175600-131205400	Weak transcription	NH-A	brain
21	chr6:131175600-131221600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:131177200-131209200	Weak transcription	HUVEC	blood vessel
23	chr6:131179200-131214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:131179400-131222400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:131179600-131210600	Weak transcription	NHEK	skin
26	chr6:131179600-131215000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:131180000-131203200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:131180800-131191600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:131181400-131193800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:131181400-131214400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:131182600-131191600	Strong transcription	Dnd41	blood
32	chr6:131183000-131192400	Weak transcription	Small Intestine	intestine
33	chr6:131183000-131192400	Weak transcription	Hela-S3	cervix
34	chr6:131184800-131193600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:131184800-131200800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:131185800-131214400	Weak transcription	Thymus	Thymus
37	chr6:131187000-131203200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:131187000-131207000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:131187000-131214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:131187000-131223200	Weak transcription	Gastric	stomach
41	chr6:131187200-131193200	Weak transcription	Liver	Liver
42	chr6:131187200-131216400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:131187400-131208600	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:131187600-131203400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr6:131188200-131216400	Weak transcription	HSMMtube	muscle
46	chr6:131188600-131197800	Weak transcription	HSMM	muscle
47	chr6:131188600-131203200	Weak transcription	NHDF-Ad	bronchial
48	chr6:131188800-131191000	Weak transcription	Osteobl	bone
49	chr6:131188800-131203600	Weak transcription	Placenta	Placenta
50	chr6:131188800-131208800	Weak transcription	Primary B cells from cord blood	blood

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