Variant report

Variant	rs41288562
Chromosome Location	chr6:109773375-109773376
allele	G/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	POLR2A	chr6:109772718-109773942	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:109772650-109773943	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:109773258-109774006	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:109772739-109773589	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:109772754-109774101	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr6:109773135-109773423	K562	blood:	n/a	n/a
7	CTCF	chr6:109773260-109773410	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:109752135..109753752-chr6:109773019..109775063,2	K562	blood:

Variant related genes	Relation type
MICAL1	TF binding region
ENSG00000185250	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12207503	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12207716	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12213697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109762800-109775800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:109763200-109774400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:109763200-109775600	Weak transcription	Fetal Kidney	kidney
4	chr6:109763200-109775800	Weak transcription	HUVEC	blood vessel
5	chr6:109763400-109775000	Strong transcription	NHLF	lung
6	chr6:109763400-109775200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:109763600-109775000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:109763600-109775200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:109763600-109775800	Weak transcription	Right Atrium	heart
10	chr6:109763800-109774400	Strong transcription	HSMM	muscle
11	chr6:109763800-109774600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:109763800-109774800	Strong transcription	Fetal Stomach	stomach
13	chr6:109763800-109774800	Weak transcription	Small Intestine	intestine
14	chr6:109763800-109775400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:109763800-109775400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:109763800-109775600	Weak transcription	HepG2	liver
17	chr6:109764000-109774400	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr6:109764000-109774600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr6:109764000-109774800	Strong transcription	Fetal Intestine Large	intestine
20	chr6:109764000-109775000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:109764200-109774600	Strong transcription	Brain Germinal Matrix	brain
22	chr6:109764200-109774600	Weak transcription	Stomach Mucosa	stomach
23	chr6:109764200-109774800	Strong transcription	Fetal Brain Female	brain
24	chr6:109764400-109775800	Weak transcription	Hela-S3	cervix
25	chr6:109765400-109773600	Strong transcription	NHDF-Ad	bronchial
26	chr6:109765400-109773800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:109766600-109775800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:109766800-109775200	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:109767000-109775600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:109767000-109776000	Weak transcription	A549	lung
31	chr6:109767200-109776000	Weak transcription	Osteobl	bone
32	chr6:109767400-109774400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:109768200-109774800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:109768400-109775800	Weak transcription	Liver	Liver
35	chr6:109768400-109775800	Weak transcription	Left Ventricle	heart
36	chr6:109768400-109776000	Weak transcription	Ovary	ovary
37	chr6:109768400-109776400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:109768400-109776400	Weak transcription	K562	blood
39	chr6:109768800-109774400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:109769000-109774800	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr6:109769000-109775200	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr6:109769000-109775200	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr6:109769400-109774600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr6:109770200-109773400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:109770600-109775000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:109770600-109775000	Weak transcription	Brain Angular Gyrus	brain
47	chr6:109770600-109775200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:109770600-109775400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:109770800-109774800	Weak transcription	Pancreas	Pancrea
50	chr6:109770800-109775200	Weak transcription	Brain Substantia Nigra	brain

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