Variant report

Variant	rs73043982
Chromosome Location	chr1:168930200-168930201
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168929238..168931955-chr1:169074325..169077139,2	MCF-7	breast:
2	chr1:168884605..168887295-chr1:168929904..168931983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1002326	0.86[EUR][1000 genomes]
rs10489368	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11584025	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11590068	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037139	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12040207	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1575330	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16861785	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3950026	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57748075	0.83[EUR][1000 genomes]
rs59728189	0.83[EUR][1000 genomes]
rs60220949	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61302106	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61562132	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs992325	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168926800-168931000	Enhancers	Brain Germinal Matrix	brain
2	chr1:168928200-168931000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:168928400-168932600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:168928800-168930200	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr1:168929000-168930200	Weak transcription	Ovary	ovary
6	chr1:168929000-168930600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:168929200-168930600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr1:168929600-168930400	Enhancers	HMEC	breast
9	chr1:168929800-168930400	Enhancers	HUVEC	blood vessel
10	chr1:168930000-168930200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr1:168930000-168930400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:168930000-168930400	Active TSS	Brain Anterior Caudate	brain
13	chr1:168930000-168930400	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr1:168930000-168930400	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr1:168930000-168930400	Enhancers	Fetal Intestine Large	intestine
16	chr1:168930000-168930400	Enhancers	Fetal Intestine Small	intestine
17	chr1:168930000-168930400	Enhancers	Left Ventricle	heart
18	chr1:168930000-168930400	Enhancers	Psoas Muscle	Psoas
19	chr1:168930000-168930400	Enhancers	Right Atrium	heart
20	chr1:168930000-168930400	Enhancers	Right Ventricle	heart
21	chr1:168930000-168930600	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr1:168930000-168931000	Enhancers	Gastric	stomach
23	chr1:168930200-168930400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr1:168930200-168930400	Enhancers	Ovary	ovary
25	chr1:168930200-168930600	Enhancers	Brain Angular Gyrus	brain
26	chr1:168930200-168930600	Enhancers	HepG2	liver

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