Variant report

Variant	rs11154397
Chromosome Location	chr6:127646649-127646650
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:127644823..127649108-chr6:127649244..127652303,4	K562	blood:
2	chr6:127646597..127649451-chr6:127650225..127654504,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000093144	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	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11154396	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11154398	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11556354	0.81[CEU][hapmap]
rs11961994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12212752	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12215298	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12529077	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]
rs13192350	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13215850	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2057224	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4502958	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6933893	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7775667	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11154397	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 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	chr6:127608800-127646800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:127608800-127646800	Weak transcription	Lung	lung
4	chr6:127608800-127652800	Weak transcription	Esophagus	oesophagus
5	chr6:127608800-127653600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:127608800-127653600	Weak transcription	Pancreas	Pancrea
7	chr6:127608800-127654600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:127608800-127661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:127608800-127663600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:127608800-127663600	Weak transcription	Gastric	stomach
11	chr6:127613000-127661000	Weak transcription	Small Intestine	intestine
12	chr6:127614600-127659200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:127618800-127647200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:127620400-127647000	Weak transcription	Left Ventricle	heart
15	chr6:127621800-127661000	Weak transcription	Fetal Heart	heart
16	chr6:127622000-127646800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:127622000-127646800	Weak transcription	Aorta	Aorta
18	chr6:127622000-127649400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:127622000-127661400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:127622000-127661400	Weak transcription	NHEK	skin
21	chr6:127622800-127661400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:127622800-127662600	Weak transcription	Fetal Brain Male	brain
23	chr6:127623000-127649200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:127625600-127661400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:127627400-127659000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:127627800-127646800	Weak transcription	Fetal Intestine Small	intestine
27	chr6:127628000-127653000	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:127629800-127661200	Weak transcription	A549	lung
29	chr6:127630400-127647200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:127630600-127647200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr6:127630800-127649200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:127630800-127649600	Strong transcription	Dnd41	blood
33	chr6:127630800-127649800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr6:127631000-127651400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:127632400-127657600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:127632800-127646800	Weak transcription	Fetal Stomach	stomach
37	chr6:127633800-127646800	Weak transcription	Brain Substantia Nigra	brain
38	chr6:127634000-127652200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:127634800-127646800	Weak transcription	Ovary	ovary
40	chr6:127634800-127647400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:127634800-127661400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr6:127635000-127646800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:127635000-127658000	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:127635400-127647200	Weak transcription	NHLF	lung
45	chr6:127635400-127648000	Weak transcription	Colonic Mucosa	Colon
46	chr6:127635400-127653600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:127635600-127647200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr6:127635800-127659200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:127638800-127649200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:127639000-127652400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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