Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100483263..100486375-chr4:100577778..100581735,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145331	Chromatin interaction
ENSG00000138823	Chromatin interaction

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10516445	0.83[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs11936303	0.83[EUR][1000 genomes]
rs12639930	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12641768	0.92[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs12647188	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12648843	0.83[EUR][1000 genomes]
rs13105033	0.88[ASN][1000 genomes]
rs13112253	0.86[CEU][hapmap]
rs13126189	0.88[ASN][1000 genomes]
rs13130068	0.84[EUR][1000 genomes]
rs1352775	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1491238	0.88[ASN][1000 genomes]
rs1948353	0.83[EUR][1000 genomes]
rs2306985	0.88[ASN][1000 genomes]
rs2866167	0.83[EUR][1000 genomes]
rs3805337	0.88[ASN][1000 genomes]
rs3828543	0.88[ASN][1000 genomes]
rs4699755	0.88[ASN][1000 genomes]
rs6532825	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6831328	0.83[EUR][1000 genomes]
rs6832692	0.85[EUR][1000 genomes]
rs6840719	0.85[EUR][1000 genomes]
rs6852647	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659550	0.92[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs7677213	0.81[EUR][1000 genomes]
rs7677594	0.83[EUR][1000 genomes]
rs7678889	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7698798	0.88[ASN][1000 genomes]
rs881981	0.85[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs959247	0.92[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs991811	0.83[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][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	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100567800-100579200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:100575800-100579800	Weak transcription	Right Atrium	heart
3	chr4:100576000-100579400	Weak transcription	Psoas Muscle	Psoas
4	chr4:100576600-100578600	Enhancers	Fetal Muscle Leg	muscle
5	chr4:100576800-100579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:100577000-100579000	Active TSS	Right Ventricle	heart
7	chr4:100577000-100579400	Weak transcription	Brain Anterior Caudate	brain
8	chr4:100577000-100579800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:100577200-100578200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:100577200-100578200	Weak transcription	Ovary	ovary
11	chr4:100577200-100578200	Weak transcription	NHEK	skin
12	chr4:100577200-100578400	Weak transcription	HMEC	breast
13	chr4:100577200-100578600	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:100577200-100578600	Active TSS	Left Ventricle	heart
15	chr4:100577200-100579400	Weak transcription	HSMMtube	muscle
16	chr4:100577200-100580200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:100577200-100580600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr4:100577400-100578400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:100577400-100580800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr4:100578000-100579800	Enhancers	Hela-S3	cervix
21	chr4:100578000-100580400	Enhancers	Fetal Heart	heart

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