Variant report

Variant	rs4502958
Chromosome Location	chr6:127593113-127593114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:127592830..127595809-chr6:127600762..127603606,3	MCF-7	breast:
2	chr6:127592107..127594540-chr6:127612186..127615166,2	K562	blood:
3	chr6:127591724..127593793-chr6:127607677..127610400,2	MCF-7	breast:
4	chr6:127586524..127588364-chr6:127591937..127594560,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118518	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11154395	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11154396	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11154397	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11154398	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11961994	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12199451	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210968	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212752	0.90[ASN][1000 genomes]
rs12529077	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13192350	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13215850	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2057224	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3756993	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3798859	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6683	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913350	0.81[EUR][1000 genomes]
rs6933893	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7742161	0.81[EUR][1000 genomes]
rs7760652	0.81[EUR][1000 genomes]
rs7775667	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs877102	0.81[EUR][1000 genomes]
rs9388554	0.81[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4502958	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127589000-127595800	Weak transcription	Spleen	Spleen
2	chr6:127589200-127595800	Weak transcription	Pancreas	Pancrea
3	chr6:127589200-127602600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:127589400-127595800	Weak transcription	Lung	lung
5	chr6:127589400-127597000	Weak transcription	Stomach Mucosa	stomach
6	chr6:127589400-127601400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:127589400-127607800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:127589600-127607800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:127589800-127603800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:127589800-127612000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:127590000-127601400	Weak transcription	Placenta	Placenta
12	chr6:127590200-127594400	Weak transcription	Brain Substantia Nigra	brain
13	chr6:127590400-127593200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:127590400-127601400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:127590400-127602600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:127590400-127606400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:127590400-127607800	Weak transcription	Thymus	Thymus
18	chr6:127590600-127593200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:127590600-127593600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:127590600-127595000	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:127590600-127595800	Weak transcription	Small Intestine	intestine
22	chr6:127590600-127597400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:127590600-127601400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:127590600-127601400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:127590600-127601600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr6:127590600-127602000	Weak transcription	HMEC	breast
27	chr6:127590600-127602200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:127590600-127602400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:127590600-127602400	Weak transcription	Fetal Intestine Large	intestine
30	chr6:127590600-127602600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:127590600-127607800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:127590800-127593400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:127590800-127593600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr6:127590800-127593800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:127590800-127594000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr6:127590800-127595800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:127590800-127595800	Weak transcription	Aorta	Aorta
38	chr6:127590800-127595800	Weak transcription	Brain Anterior Caudate	brain
39	chr6:127590800-127595800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:127590800-127595800	Weak transcription	K562	blood
41	chr6:127590800-127600800	Weak transcription	GM12878-XiMat	blood
42	chr6:127590800-127601400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:127590800-127601600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:127590800-127601800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:127590800-127601800	Weak transcription	NH-A	brain
46	chr6:127590800-127602200	Weak transcription	HSMM	muscle
47	chr6:127590800-127602400	Weak transcription	NHLF	lung
48	chr6:127590800-127602600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:127590800-127602600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:127590800-127602600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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