Variant report

Variant	rs6996424
Chromosome Location	chr8:105548581-105548582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105533183..105536840-chr8:105546219..105548780,3	K562	blood:
2	chr8:105548452..105551549-chr8:105551987..105555312,4	K562	blood:
3	chr8:105541937..105546028-chr8:105546808..105551808,5	K562	blood:
4	chr8:105547753..105551944-chr8:105551987..105556104,4	K562	blood:
5	chr8:105539636..105541250-chr8:105546259..105548784,2	K562	blood:
6	chr8:105539636..105541987-chr8:105546259..105549133,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2458416	1.00[ASW][hapmap]
rs3018437	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs3808399	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105511800-105550200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:105512800-105550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:105527800-105549600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:105533200-105551400	Weak transcription	HSMM	muscle
6	chr8:105534800-105549400	Weak transcription	Osteobl	bone
7	chr8:105535600-105550200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:105536200-105549600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:105540000-105562000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:105541000-105548800	Weak transcription	Brain Germinal Matrix	brain
11	chr8:105541000-105549400	Weak transcription	Right Ventricle	heart
12	chr8:105542000-105549600	Weak transcription	Dnd41	blood
13	chr8:105542800-105558600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:105542800-105565400	Weak transcription	Left Ventricle	heart
15	chr8:105544800-105550800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:105545000-105550200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:105545200-105549200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:105545200-105554600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:105545200-105565600	Weak transcription	Aorta	Aorta
20	chr8:105545800-105549400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:105545800-105549400	Weak transcription	GM12878-XiMat	blood
22	chr8:105546200-105549400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:105547200-105548600	Enhancers	Fetal Heart	heart
24	chr8:105547800-105548600	Enhancers	Colon Smooth Muscle	Colon
25	chr8:105548000-105549000	Active TSS	Right Atrium	heart
26	chr8:105548400-105548600	Active TSS	Psoas Muscle	Psoas
27	chr8:105548400-105548800	Enhancers	Brain Anterior Caudate	brain
28	chr8:105548400-105548800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr8:105548400-105548800	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr8:105548400-105548800	Flanking Active TSS	K562	blood

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