Variant report

Variant	rs59930939
Chromosome Location	chr6:127618095-127618096
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr6:127618082-127618298	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr6:127618042-127618099	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:127618091-127618127	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:127613981..127617001-chr6:127617668..127620592,4	K562	blood:

Variant related genes	Relation type
ECHDC1	TF binding region
ENSG00000093144	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17054536	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2875981	0.84[ASN][1000 genomes]
rs3798856	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823043	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41285264	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56155196	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56412751	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60886957	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61498440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909390	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6937599	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72961030	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72961049	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961060	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961071	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961085	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72963107	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72964327	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127601000-127619000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:127601600-127621800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr6:127604000-127618400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:127605000-127660800	Weak transcription	Hela-S3	cervix
5	chr6:127608600-127625000	Weak transcription	Colonic Mucosa	Colon
6	chr6:127608800-127620800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:127608800-127621000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:127608800-127621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:127608800-127621800	Weak transcription	Fetal Stomach	stomach
10	chr6:127608800-127628000	Weak transcription	Spleen	Spleen
11	chr6:127608800-127633400	Weak transcription	Fetal Kidney	kidney
12	chr6:127608800-127634400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:127608800-127635200	Weak transcription	K562	blood
14	chr6:127608800-127646800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:127608800-127646800	Weak transcription	Lung	lung
16	chr6:127608800-127652800	Weak transcription	Esophagus	oesophagus
17	chr6:127608800-127653600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:127608800-127653600	Weak transcription	Pancreas	Pancrea
19	chr6:127608800-127654600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:127608800-127661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:127608800-127663600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:127608800-127663600	Weak transcription	Gastric	stomach
23	chr6:127609000-127621400	Weak transcription	Fetal Heart	heart
24	chr6:127609000-127621600	Weak transcription	Fetal Brain Male	brain
25	chr6:127609000-127621600	Weak transcription	Right Ventricle	heart
26	chr6:127609000-127624800	Weak transcription	Thymus	Thymus
27	chr6:127609000-127630600	Weak transcription	Ovary	ovary
28	chr6:127609000-127646200	Weak transcription	Psoas Muscle	Psoas
29	chr6:127609200-127621400	Weak transcription	Fetal Brain Female	brain
30	chr6:127609200-127621600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:127610400-127621000	Weak transcription	NHLF	lung
32	chr6:127610400-127633400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:127610600-127620800	Weak transcription	NHDF-Ad	bronchial
34	chr6:127610600-127624600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:127610800-127627200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:127611200-127621200	Weak transcription	NHEK	skin
37	chr6:127611200-127627400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:127611400-127618600	Weak transcription	Primary T cells from cord blood	blood
39	chr6:127611400-127621000	Weak transcription	HUVEC	blood vessel
40	chr6:127611400-127621400	Weak transcription	Placenta	Placenta
41	chr6:127611400-127645600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:127611600-127624600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr6:127612000-127627400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:127612200-127620000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:127612200-127621200	Weak transcription	A549	lung
46	chr6:127612200-127621600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:127612200-127637600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:127612400-127620200	Weak transcription	Fetal Thymus	thymus
49	chr6:127612400-127621200	Weak transcription	HMEC	breast
50	chr6:127612600-127621400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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