Variant report

Variant	rs57356103
Chromosome Location	chr2:86040834-86040835
allele	C/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	SMC3	chr2:86040730-86042327	SK-N-SH	brain:	n/a	chr2:86041505-86041519 chr2:86041037-86041047
2	MAZ	chr2:86040816-86041870	IMR90	lung:	n/a	n/a
3	RAD21	chr2:86040628-86042158	SK-N-SH	brain:	n/a	chr2:86041503-86041515 chr2:86041037-86041047 chr2:86041501-86041520
4	CTCF	chr2:86040813-86042409	A549	lung:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041049-86041062 chr2:86041038-86041048 chr2:86041503-86041521 chr2:86041505-86041518

No.	Distal block	Cell Line	Cell type
1	chr2:85977336..85978647-chr2:86040499..86041691,7	MCF-7	breast:
2	chr2:85963690..85965421-chr2:86040273..86041784,2	MCF-7	breast:
3	chr2:85955246..85956833-chr2:86040551..86042336,26	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229498	TF binding region
ENSG00000199687	Chromatin interaction
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10203272	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11679726	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392384	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400884	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58320050	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726470	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6754806	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86024600-86043600	Weak transcription	Right Ventricle	heart
2	chr2:86029800-86054400	Weak transcription	Spleen	Spleen
3	chr2:86037000-86041400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:86037200-86041400	Enhancers	Fetal Lung	lung
5	chr2:86037600-86041400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:86037600-86042600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:86039000-86041000	Weak transcription	Pancreas	Pancrea
8	chr2:86039000-86041000	Weak transcription	HSMMtube	muscle
9	chr2:86039000-86041000	Weak transcription	NHDF-Ad	bronchial
10	chr2:86039000-86041200	Weak transcription	Gastric	stomach
11	chr2:86039000-86041200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:86039000-86042400	Weak transcription	Left Ventricle	heart
13	chr2:86039200-86041200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:86039200-86041200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:86039400-86041000	Weak transcription	Adipose Nuclei	Adipose
16	chr2:86039600-86041000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:86039600-86041000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:86039600-86041000	Weak transcription	Lung	lung
19	chr2:86039600-86041000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:86039600-86041200	Weak transcription	Osteobl	bone
21	chr2:86039800-86041000	Weak transcription	Liver	Liver
22	chr2:86039800-86041000	Weak transcription	Ovary	ovary
23	chr2:86039800-86041200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:86039800-86041200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:86039800-86041200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:86039800-86041200	Weak transcription	Right Atrium	heart
27	chr2:86039800-86042000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:86039800-86074800	Weak transcription	Aorta	Aorta
29	chr2:86040600-86041000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:86040600-86041000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:86040800-86041400	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr2:86040800-86041400	Enhancers	HSMM	muscle
33	chr2:86040800-86042000	Enhancers	Brain Hippocampus Middle	brain
34	chr2:86040800-86042400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:86040800-86042600	Enhancers	A549	lung

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