Variant report

Variant	rs7548427
Chromosome Location	chr1:168682761-168682762
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168678083..168681596-chr1:168682656..168685020,3	MCF-7	breast:
2	chr1:168681110..168683194-chr1:169074545..169076179,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10918961	1.00[AMR][1000 genomes]
rs10918964	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs12073060	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12076001	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6427143	1.00[AMR][1000 genomes]
rs74122770	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74122771	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7525963	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532043	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168676400-168687400	Weak transcription	Ovary	ovary
2	chr1:168678200-168695600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:168678800-168683200	Weak transcription	Left Ventricle	heart
4	chr1:168679000-168683200	Weak transcription	Esophagus	oesophagus
5	chr1:168679200-168694600	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:168679600-168694600	Weak transcription	Fetal Stomach	stomach
7	chr1:168679800-168683400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:168679800-168686400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:168679800-168694600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:168680000-168684200	Weak transcription	HSMMtube	muscle
11	chr1:168680200-168683000	Weak transcription	NHEK	skin
12	chr1:168680200-168683200	Weak transcription	HMEC	breast
13	chr1:168680200-168687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:168680200-168694800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:168680600-168682800	Strong transcription	Adipose Nuclei	Adipose
16	chr1:168680800-168683000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:168681000-168687200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:168681000-168687200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:168681400-168692400	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:168681800-168683200	Weak transcription	Pancreas	Pancrea
21	chr1:168682200-168683600	Enhancers	Fetal Heart	heart
22	chr1:168682600-168682800	Enhancers	Right Atrium	heart
23	chr1:168682600-168683600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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