Variant report

Variant	rs12529077
Chromosome Location	chr6:127634244-127634245
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:127632489..127635205-chr6:127663712..127665685,2	MCF-7	breast:
2	chr6:127621289..127623398-chr6:127633908..127636784,2	K562	blood:
3	chr6:127633908..127636963-chr6:127637299..127640065,3	K562	blood:
4	chr6:127633009..127636327-chr6:127662306..127665318,3	K562	blood:

Variant related genes	Relation type
ENSG00000093144	Chromatin interaction
ENSG00000251768	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11154395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11154396	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11154397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11154398	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11556354	0.81[CEU][hapmap]
rs11961994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12199451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212752	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12215298	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13192350	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13215850	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2057224	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2875981	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs3756993	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3798859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4502958	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933893	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7775667	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12529077	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127605000-127660800	Weak transcription	Hela-S3	cervix
2	chr6:127608800-127634400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:127608800-127635200	Weak transcription	K562	blood
4	chr6:127608800-127646800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:127608800-127646800	Weak transcription	Lung	lung
6	chr6:127608800-127652800	Weak transcription	Esophagus	oesophagus
7	chr6:127608800-127653600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:127608800-127653600	Weak transcription	Pancreas	Pancrea
9	chr6:127608800-127654600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:127608800-127661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:127608800-127663600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:127608800-127663600	Weak transcription	Gastric	stomach
13	chr6:127609000-127646200	Weak transcription	Psoas Muscle	Psoas
14	chr6:127611400-127645600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:127612200-127637600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:127613000-127634600	Weak transcription	Stomach Mucosa	stomach
17	chr6:127613000-127635200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:127613000-127640000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:127613000-127661000	Weak transcription	Small Intestine	intestine
20	chr6:127613400-127636200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:127613400-127646200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:127614600-127659200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:127616600-127645800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:127618800-127647200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:127620400-127647000	Weak transcription	Left Ventricle	heart
26	chr6:127621800-127646400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:127621800-127661000	Weak transcription	Fetal Heart	heart
28	chr6:127622000-127634400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:127622000-127645200	Weak transcription	HMEC	breast
30	chr6:127622000-127645600	Weak transcription	HSMMtube	muscle
31	chr6:127622000-127646800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:127622000-127646800	Weak transcription	Aorta	Aorta
33	chr6:127622000-127649400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:127622000-127661400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr6:127622000-127661400	Weak transcription	NHEK	skin
36	chr6:127622400-127635200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:127622800-127634400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:127622800-127634400	Weak transcription	NHLF	lung
39	chr6:127622800-127661400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:127622800-127662600	Weak transcription	Fetal Brain Male	brain
41	chr6:127623000-127649200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr6:127624000-127646400	Weak transcription	HUVEC	blood vessel
43	chr6:127624600-127635000	Strong transcription	Primary B cells from cord blood	blood
44	chr6:127625200-127634400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:127625400-127634800	Weak transcription	Colonic Mucosa	Colon
46	chr6:127625600-127646000	Weak transcription	Thymus	Thymus
47	chr6:127625600-127661400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:127626000-127646000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:127627400-127639200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:127627400-127659000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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