Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:124618781..124620563-chr8:124632222..124635150,2	K562	blood:
2	chr8:124599897..124602444-chr8:124632894..124635486,2	MCF-7	breast:
3	chr8:124595940..124598398-chr8:124632686..124634983,2	MCF-7	breast:
4	chr8:124631690..124636350-chr8:124636820..124639230,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251840	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10094484	1.00[JPT][hapmap]
rs10956138	0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12545556	1.00[CHB][hapmap]
rs12547295	0.88[ASN][1000 genomes]
rs12550449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16898637	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17254881	1.00[EUR][1000 genomes]
rs17255218	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1978681	1.00[CHB][hapmap]
rs35947475	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59344306	0.93[ASN][1000 genomes]
rs62520922	0.85[ASN][1000 genomes]
rs62520925	0.92[ASN][1000 genomes]
rs6470163	0.89[ASN][1000 genomes]
rs7001678	0.93[ASN][1000 genomes]
rs73339405	0.93[ASN][1000 genomes]
rs7386679	1.00[JPT][hapmap]
rs7387172	1.00[CHB][hapmap]
rs7816145	0.93[ASN][1000 genomes]
rs7825091	1.00[CHB][hapmap]
rs7825404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7836620	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124624000-124635200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:124625200-124634800	Weak transcription	Placenta	Placenta
3	chr8:124629200-124645400	Weak transcription	Aorta	Aorta
4	chr8:124630400-124635600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr8:124630800-124635400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr8:124631200-124643000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:124631600-124634600	Weak transcription	Left Ventricle	heart
8	chr8:124631800-124634800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:124632000-124634600	Weak transcription	K562	blood
10	chr8:124632800-124634600	Weak transcription	Fetal Intestine Large	intestine
11	chr8:124633000-124634600	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:124633000-124635000	Weak transcription	HSMMtube	muscle
13	chr8:124633200-124635200	Enhancers	Psoas Muscle	Psoas
14	chr8:124633400-124635000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:124633600-124637400	Enhancers	Fetal Heart	heart
16	chr8:124633800-124634600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:124634200-124642600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:124634400-124635800	Enhancers	Fetal Intestine Small	intestine
19	chr8:124634400-124638800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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