Variant report

Variant	rs2057224
Chromosome Location	chr6:127624414-127624415
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:127623597..127624589-chr6:127785440..127786005,2	MCF-7	breast:
2	chr6:127623612..127624559-chr6:127741344..127742234,3	MCF-7	breast:
3	chr6:127623667..127624499-chr6:127860239..127860826,2	MCF-7	breast:
4	chr6:127623451..127624500-chr6:127741516..127742270,5	MCF-7	breast:
5	chr6:127620279..127622544-chr6:127624059..127626333,2	K562	blood:
6	chr6:127623950..127624602-chr6:127868566..127869467,2	MCF-7	breast:
7	chr6:127623606..127624647-chr6:127741293..127742295,4	K562	blood:
8	chr6:127590778..127593110-chr6:127623599..127625768,2	K562	blood:

No data

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11154395	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11154396	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11154397	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11154398	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11961994	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12199451	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12210968	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12212752	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12215298	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12529077	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13192350	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13215850	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2875981	0.83[AFR][1000 genomes]
rs3756993	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3798859	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4502958	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6683	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6933893	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7775667	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2057224	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 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	chr6:127608600-127625000	Weak transcription	Colonic Mucosa	Colon
3	chr6:127608800-127628000	Weak transcription	Spleen	Spleen
4	chr6:127608800-127633400	Weak transcription	Fetal Kidney	kidney
5	chr6:127608800-127634400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:127608800-127635200	Weak transcription	K562	blood
7	chr6:127608800-127646800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:127608800-127646800	Weak transcription	Lung	lung
9	chr6:127608800-127652800	Weak transcription	Esophagus	oesophagus
10	chr6:127608800-127653600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:127608800-127653600	Weak transcription	Pancreas	Pancrea
12	chr6:127608800-127654600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:127608800-127661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:127608800-127663600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:127608800-127663600	Weak transcription	Gastric	stomach
16	chr6:127609000-127624800	Weak transcription	Thymus	Thymus
17	chr6:127609000-127630600	Weak transcription	Ovary	ovary
18	chr6:127609000-127646200	Weak transcription	Psoas Muscle	Psoas
19	chr6:127610400-127633400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:127610600-127624600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:127610800-127627200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:127611200-127627400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:127611400-127645600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr6:127611600-127624600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr6:127612000-127627400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:127612200-127637600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr6:127612600-127629000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:127612800-127629000	Weak transcription	Brain Anterior Caudate	brain
29	chr6:127612800-127630800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:127613000-127634600	Weak transcription	Stomach Mucosa	stomach
31	chr6:127613000-127635200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:127613000-127640000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:127613000-127661000	Weak transcription	Small Intestine	intestine
34	chr6:127613200-127624600	Weak transcription	Brain Hippocampus Middle	brain
35	chr6:127613200-127632000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr6:127613400-127629600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr6:127613400-127636200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:127613400-127646200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr6:127613600-127624600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:127614600-127659200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr6:127616600-127645800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:127618000-127628600	Weak transcription	Fetal Intestine Large	intestine
43	chr6:127618200-127624800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:127618200-127624800	Weak transcription	Fetal Intestine Small	intestine
45	chr6:127618200-127625000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr6:127618800-127631000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:127618800-127647200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:127619000-127624800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr6:127619400-127630800	Weak transcription	Primary T cells from cord blood	blood
50	chr6:127619800-127624600	Weak transcription	HepG2	liver

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