Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:168847706..168850516-chr1:168873676..168876740,3	MCF-7	breast:
2	chr1:168848598..168851382-chr1:168873241..168874804,2	K562	blood:
3	chr1:168848616..168851828-chr1:169073705..169076931,4	MCF-7	breast:
4	chr1:168706095..168708640-chr1:168848539..168850688,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1028642	0.86[CHB][hapmap]
rs10489363	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs10919003	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10919004	0.93[ASN][1000 genomes]
rs12075656	0.83[ASN][1000 genomes]
rs12118438	0.85[ASN][1000 genomes]
rs12129163	0.82[ASN][1000 genomes]
rs12133503	0.95[CHB][hapmap]
rs12134579	0.85[ASN][1000 genomes]
rs12134708	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs12135979	0.85[ASN][1000 genomes]
rs12140895	0.93[ASN][1000 genomes]
rs12562255	0.95[CHB][hapmap];0.88[CHD][hapmap];0.81[ASN][1000 genomes]
rs1322497	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1407477	0.87[CHB][hapmap];0.88[MEX][hapmap]
rs16861737	0.95[CHB][hapmap];0.84[CHD][hapmap]
rs1885555	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2065132	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2146205	0.82[CHB][hapmap]
rs2146206	0.85[ASN][1000 genomes]
rs2419395	0.95[CHB][hapmap]
rs7518480	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs857643	0.88[ASN][1000 genomes]
rs857645	0.81[ASN][1000 genomes]
rs9651041	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	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
3	nsv437258	chr1:168824111-168890420	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7537225	SLC19A2	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168841600-168850400	Weak transcription	Fetal Heart	heart
2	chr1:168847000-168858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:168849200-168850400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:168849400-168850000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr1:168849400-168850000	Flanking Active TSS	Hela-S3	cervix
6	chr1:168849400-168850200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:168849400-168850400	Enhancers	Fetal Intestine Large	intestine
8	chr1:168849400-168850400	Enhancers	Fetal Intestine Small	intestine
9	chr1:168849400-168850400	Enhancers	Ovary	ovary
10	chr1:168849400-168851000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:168849400-168851200	Enhancers	Fetal Stomach	stomach
12	chr1:168849600-168850000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:168849600-168850000	Enhancers	Aorta	Aorta
14	chr1:168849600-168850200	Enhancers	Brain Hippocampus Middle	brain
15	chr1:168849600-168850400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:168849600-168851800	Enhancers	Brain Germinal Matrix	brain
17	chr1:168849800-168850400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:168849800-168850800	Weak transcription	Fetal Brain Male	brain
19	chr1:168849800-168852200	Enhancers	Fetal Lung	lung

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