Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:124645881..124648835-chr8:124656930..124658613,2	K562	blood:
2	chr8:124644904..124649137-chr8:124652807..124658443,6	MCF-7	breast:
3	chr8:124630020..124633411-chr8:124643439..124646269,5	MCF-7	breast:
4	chr8:124644884..124646773-chr8:124663216..124665347,2	MCF-7	breast:
5	chr8:124608092..124610186-chr8:124645249..124647691,2	MCF-7	breast:
6	chr8:124643571..124646557-chr8:124651939..124654675,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175946	Chromatin interaction

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11991567	1.00[CHB][hapmap]
rs12547295	0.83[CHD][hapmap]
rs12550449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17255218	0.92[ASN][1000 genomes]
rs1978681	1.00[CHB][hapmap]
rs35947475	0.92[ASN][1000 genomes]
rs59344306	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6470163	0.85[ASN][1000 genomes]
rs7001678	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs73339405	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7387172	1.00[CHB][hapmap]
rs7816145	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7825091	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7825404	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[ASN][1000 genomes]
rs7836620	1.00[CHB][hapmap]
rs9792209	1.00[CHB][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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124640200-124647800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:124640800-124646600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:124641400-124646400	Enhancers	HMEC	breast
4	chr8:124641800-124646200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:124642000-124651800	Weak transcription	Right Ventricle	heart
6	chr8:124642400-124646800	Enhancers	NH-A	brain
7	chr8:124643200-124651800	Weak transcription	Psoas Muscle	Psoas
8	chr8:124643800-124650800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:124644200-124646200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:124644200-124646200	Enhancers	HSMM	muscle
11	chr8:124644600-124646400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:124645000-124647200	Weak transcription	K562	blood
13	chr8:124645000-124647600	Weak transcription	Left Ventricle	heart
14	chr8:124645000-124651800	Weak transcription	Fetal Heart	heart
15	chr8:124645600-124647400	Weak transcription	Right Atrium	heart
16	chr8:124645600-124649200	Weak transcription	Hela-S3	cervix
17	chr8:124645800-124649200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:124646000-124647200	Weak transcription	NHDF-Ad	bronchial
19	chr8:124646000-124651800	Weak transcription	Aorta	Aorta
20	chr8:124646000-124655800	Weak transcription	Osteobl	bone

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