Variant report

Variant	rs56360536
Chromosome Location	chr1:168680167-168680168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168677538..168680486-chr1:169074816..169077592,4	MCF-7	breast:
2	chr1:168677511..168680234-chr1:169074127..169077716,6	MCF-7	breast:
3	chr1:168678083..168681596-chr1:168682656..168685020,3	MCF-7	breast:
4	chr1:168678469..168680348-chr1:168740561..168743159,2	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:12)

rs_ID	r²[population]
rs10489361	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918965	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582481	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590043	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808306	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744728	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12749351	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34255594	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656613	1.00[ASN][1000 genomes]
rs4656614	1.00[ASN][1000 genomes]
rs55913393	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61801596	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168676200-168681400	Weak transcription	Gastric	stomach
2	chr1:168676200-168682600	Weak transcription	Right Atrium	heart
3	chr1:168676400-168687400	Weak transcription	Ovary	ovary
4	chr1:168677000-168680600	Weak transcription	Pancreas	Pancrea
5	chr1:168677600-168680200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:168677600-168680200	Enhancers	Fetal Intestine Small	intestine
7	chr1:168677600-168681000	Enhancers	Fetal Intestine Large	intestine
8	chr1:168677800-168680200	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:168677800-168680200	Enhancers	NHEK	skin
10	chr1:168678000-168681000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:168678200-168681000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:168678200-168695600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:168678800-168683200	Weak transcription	Left Ventricle	heart
14	chr1:168679000-168683200	Weak transcription	Esophagus	oesophagus
15	chr1:168679200-168680200	Enhancers	Hela-S3	cervix
16	chr1:168679200-168680200	Enhancers	HMEC	breast
17	chr1:168679200-168680400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:168679200-168680800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:168679200-168694600	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:168679400-168680200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr1:168679400-168680600	Weak transcription	Adipose Nuclei	Adipose
22	chr1:168679600-168694600	Weak transcription	Fetal Stomach	stomach
23	chr1:168679800-168680200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:168679800-168680600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:168679800-168680800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:168679800-168680800	Enhancers	A549	lung
27	chr1:168679800-168682200	Weak transcription	Fetal Heart	heart
28	chr1:168679800-168683400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:168679800-168686400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:168679800-168694600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:168680000-168681000	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:168680000-168684200	Weak transcription	HSMMtube	muscle

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