Variant report

Variant	rs999877
Chromosome Location	chr8:130490213-130490214
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130486576..130489479-chr8:130489655..130491776,3	K562	blood:
2	chr8:130476943..130484127-chr8:130486022..130491772,8	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12543365	0.86[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs28538623	0.89[EUR][1000 genomes]
rs6997249	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7000768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs891834	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs891835	0.92[CHB][hapmap];0.93[JPT][hapmap];0.96[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	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130475800-130492000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130485600-130491400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:130487800-130494800	Genic enhancers	K562	blood
4	chr8:130488000-130492600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:130488200-130491600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:130488400-130491400	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:130488400-130491800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:130488800-130491600	Weak transcription	Fetal Stomach	stomach
9	chr8:130489000-130490400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:130489000-130490400	Enhancers	Osteobl	bone
11	chr8:130489000-130490600	Enhancers	NH-A	brain
12	chr8:130489400-130490400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:130489600-130490400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:130489800-130492000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:130489800-130492200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:130489800-130492800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:130490000-130491000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:130490000-130491600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:130490000-130492200	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:130490000-130492400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:130490200-130491400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:130490200-130491600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:130490200-130491800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:130490200-130492000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:130490200-130492000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:130490200-130492000	Weak transcription	HSMM	muscle
27	chr8:130490200-130492000	Weak transcription	HSMMtube	muscle
28	chr8:130490200-130492200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:130490200-130492200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:130490200-130492200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:130490200-130492200	Weak transcription	Brain Angular Gyrus	brain
32	chr8:130490200-130492600	Weak transcription	NHDF-Ad	bronchial
33	chr8:130490200-130503400	Weak transcription	Dnd41	blood

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