Variant report

Variant	rs12197829
Chromosome Location	chr6:131274888-131274889
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10872375	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11154611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11760051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12195366	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12196734	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12203760	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs12214021	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1569195	0.92[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs17059954	0.93[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1976981	0.84[ASN][1000 genomes]
rs2151068	0.93[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2178282	0.85[ASN][1000 genomes]
rs28812545	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4259270	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4498389	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs62423583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901548	0.84[ASN][1000 genomes]
rs6902930	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6903705	0.85[ASN][1000 genomes]
rs6905151	0.81[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs6907809	0.82[JPT][hapmap]
rs6916206	0.91[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6921542	0.85[ASN][1000 genomes]
rs6926372	0.84[ASN][1000 genomes]
rs7763960	0.84[ASN][1000 genomes]
rs7770892	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs9321264	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9372987	0.93[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9372989	0.93[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9375776	0.86[JPT][hapmap]
rs9375784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375785	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9375790	0.93[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9375794	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs9375795	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9375796	0.93[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9375797	0.91[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs9388855	0.86[JPT][hapmap]
rs9388873	0.93[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9388876	0.92[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9388880	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9398967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9398969	0.93[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9398970	0.85[ASN][1000 genomes]
rs9398971	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs9398972	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9398973	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9398975	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9398976	0.86[EUR][1000 genomes]
rs9402287	0.86[JPT][hapmap]
rs9402301	0.99[ASN][1000 genomes]
rs9402306	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9402310	0.91[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9402313	0.85[ASN][1000 genomes]
rs9402314	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9483210	0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs9492790	0.81[ASN][1000 genomes]
rs9492792	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs951251	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs954919	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12197829	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131220600-131281200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:131244200-131279000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:131253000-131302200	Weak transcription	Primary B cells from cord blood	blood
4	chr6:131255200-131276000	Weak transcription	Left Ventricle	heart
5	chr6:131255400-131276200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:131255400-131288800	Weak transcription	Fetal Kidney	kidney
7	chr6:131255800-131276200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:131255800-131277400	Weak transcription	Psoas Muscle	Psoas
9	chr6:131256000-131279400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:131257400-131281800	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:131260000-131286200	Weak transcription	HSMMtube	muscle
12	chr6:131264800-131277800	Weak transcription	Gastric	stomach
13	chr6:131265600-131276000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:131266000-131275000	Weak transcription	A549	lung
15	chr6:131266000-131280600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:131266000-131283800	Weak transcription	Lung	lung
17	chr6:131266000-131287600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:131266800-131277200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:131266800-131287200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:131267000-131286000	Weak transcription	Brain Angular Gyrus	brain
21	chr6:131267000-131294800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:131267200-131277000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:131267200-131277200	Weak transcription	Small Intestine	intestine
24	chr6:131267200-131281200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:131267200-131282200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr6:131267400-131279600	Weak transcription	HMEC	breast
27	chr6:131267400-131280200	Weak transcription	Brain Anterior Caudate	brain
28	chr6:131267400-131281600	Weak transcription	GM12878-XiMat	blood
29	chr6:131267400-131286000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:131267400-131287200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:131267600-131275600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:131267600-131275600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:131267600-131284000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:131267600-131287200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:131267800-131276000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:131267800-131286000	Weak transcription	NHDF-Ad	bronchial
37	chr6:131267800-131288200	Weak transcription	NH-A	brain
38	chr6:131268200-131279400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr6:131268400-131279800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:131268400-131280600	Weak transcription	Brain Hippocampus Middle	brain
41	chr6:131268400-131287200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:131269000-131275000	Weak transcription	Fetal Intestine Large	intestine
43	chr6:131269000-131276000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:131269000-131276000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:131269000-131276200	Weak transcription	Spleen	Spleen
46	chr6:131269000-131276800	Weak transcription	HUVEC	blood vessel
47	chr6:131269000-131290400	Weak transcription	Right Ventricle	heart
48	chr6:131269400-131286000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:131271000-131279200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:131271400-131279600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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