Variant report

Variant	rs4526623
Chromosome Location	chr1:94224065-94224066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94216403..94218714-chr1:94221933..94224075,2	MCF-7	breast:
2	chr1:94145323..94148892-chr1:94219465..94224318,4	MCF-7	breast:
3	chr1:94221637..94224412-chr1:94243135..94245798,2	MCF-7	breast:
4	chr1:94223826..94225778-chr1:94232958..94235783,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10489605	1.00[CHB][hapmap]
rs10874795	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165001	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165019	0.96[EUR][1000 genomes]
rs12076307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079584	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239830	1.00[CHB][hapmap]
rs1467129	0.83[GIH][hapmap]
rs17110394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110408	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17304770	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs4615846	0.93[EUR][1000 genomes]
rs61781049	0.96[ASN][1000 genomes]
rs61781051	0.96[ASN][1000 genomes]
rs61781053	0.96[ASN][1000 genomes]
rs61782452	0.89[EUR][1000 genomes]
rs6541394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6660794	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6671839	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689215	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689746	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6703468	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs717913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967397	0.96[EUR][1000 genomes]
rs7523682	0.96[ASN][1000 genomes]
rs7555914	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs871436	0.83[GIH][hapmap];0.81[MEX][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4526623	MTF2	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94216000-94224800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:94216800-94224400	Weak transcription	Right Atrium	heart
3	chr1:94218000-94224200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:94218800-94225200	Enhancers	NHLF	lung
5	chr1:94219600-94224200	Weak transcription	Fetal Thymus	thymus
6	chr1:94219800-94224800	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:94219800-94226200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:94219800-94231600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:94220000-94224200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:94220000-94224800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:94220000-94254200	Weak transcription	Aorta	Aorta
12	chr1:94220200-94224200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:94220600-94224200	Weak transcription	HSMMtube	muscle
14	chr1:94221200-94225600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:94221200-94225600	Enhancers	Fetal Lung	lung
16	chr1:94221200-94226600	Enhancers	Placenta	Placenta
17	chr1:94221400-94224200	Weak transcription	NH-A	brain
18	chr1:94221400-94225600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:94221400-94225600	Genic enhancers	HMEC	breast
20	chr1:94221600-94224400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr1:94222200-94224400	Weak transcription	A549	lung
22	chr1:94222200-94225000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:94222400-94224200	Weak transcription	Fetal Stomach	stomach
24	chr1:94222400-94225000	Enhancers	Fetal Muscle Leg	muscle
25	chr1:94222400-94225600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:94222400-94225800	Enhancers	Adipose Nuclei	Adipose
27	chr1:94222400-94228200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:94222600-94224200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:94222600-94224200	Weak transcription	HSMM	muscle
30	chr1:94222600-94225200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:94222600-94225600	Enhancers	Fetal Muscle Trunk	muscle
32	chr1:94222600-94225600	Enhancers	Lung	lung
33	chr1:94222800-94224400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:94222800-94224600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:94222800-94224800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:94222800-94225000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:94223000-94224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:94223000-94224200	Weak transcription	Osteobl	bone
39	chr1:94223000-94224800	Weak transcription	Psoas Muscle	Psoas
40	chr1:94223000-94237000	Weak transcription	NHEK	skin
41	chr1:94223400-94226800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:94223600-94224400	Weak transcription	Brain Anterior Caudate	brain
43	chr1:94223600-94224600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:94223600-94225400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:94223600-94225600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr1:94223600-94229200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:94223800-94224600	Flanking Active TSS	Hela-S3	cervix
48	chr1:94223800-94225400	Enhancers	Thymus	Thymus
49	chr1:94223800-94225600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr1:94223800-94225600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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