Variant report

Variant	rs3823043
Chromosome Location	chr6:127649319-127649320
allele	A/C
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	GATA2	chr6:127648916-127649445	HUVEC	blood vessel:	n/a	chr6:127649033-127649042 chr6:127649029-127649045
2	FOS	chr6:127649219-127649522	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:127649276-127651099	K562	blood:	n/a	n/a
4	FOS	chr6:127649196-127649539	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:127647745..127649356-chr6:127662389..127665188,2	K562	blood:
2	chr6:127644823..127649108-chr6:127649244..127652303,4	K562	blood:
3	chr6:127646597..127649451-chr6:127650225..127654504,3	MCF-7	breast:

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	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs2875981	0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3798856	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41285264	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56155196	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56412751	0.98[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59930939	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60886957	0.98[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61498440	0.95[AFR][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	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72961049	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	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72963107	0.98[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:121 , 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	chr6:127608800-127652800	Weak transcription	Esophagus	oesophagus
3	chr6:127608800-127653600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:127608800-127653600	Weak transcription	Pancreas	Pancrea
5	chr6:127608800-127654600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:127608800-127661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:127608800-127663600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:127608800-127663600	Weak transcription	Gastric	stomach
9	chr6:127613000-127661000	Weak transcription	Small Intestine	intestine
10	chr6:127614600-127659200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:127621800-127661000	Weak transcription	Fetal Heart	heart
12	chr6:127622000-127649400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:127622000-127661400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:127622000-127661400	Weak transcription	NHEK	skin
15	chr6:127622800-127661400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr6:127622800-127662600	Weak transcription	Fetal Brain Male	brain
17	chr6:127625600-127661400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:127627400-127659000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:127628000-127653000	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:127629800-127661200	Weak transcription	A549	lung
21	chr6:127630800-127649600	Strong transcription	Dnd41	blood
22	chr6:127630800-127649800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr6:127631000-127651400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:127632400-127657600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:127634000-127652200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:127634800-127661400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr6:127635000-127658000	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:127635400-127653600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr6:127635800-127659200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr6:127639000-127652400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:127639600-127652000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr6:127641000-127654000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:127643400-127650000	Strong transcription	Primary B cells from cord blood	blood
34	chr6:127643400-127654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr6:127644000-127649800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:127644200-127649600	Strong transcription	Liver	Liver
37	chr6:127644600-127649800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:127644600-127652200	Strong transcription	HepG2	liver
39	chr6:127644800-127649600	Strong transcription	Fetal Thymus	thymus
40	chr6:127644800-127652000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:127645200-127649600	Strong transcription	HMEC	breast
42	chr6:127645400-127649600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:127645400-127661400	Weak transcription	Right Ventricle	heart
44	chr6:127645600-127649400	Strong transcription	Primary T cells from cord blood	blood
45	chr6:127645600-127649600	Strong transcription	Adipose Nuclei	Adipose
46	chr6:127645600-127649800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:127645600-127649800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr6:127645800-127649800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:127645800-127661000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr6:127646000-127649400	Strong transcription	Rectal Mucosa Donor 29	rectum

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