Variant report

Variant	rs28618230
Chromosome Location	chr8:130493774-130493775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130492675..130494347-chr8:130542077..130543976,2	K562	blood:
2	chr8:130481659..130484565-chr8:130492634..130494986,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10090167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10098007	0.90[AMR][1000 genomes]
rs10112158	0.81[AMR][1000 genomes]
rs1108352	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4330655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709764	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709765	0.98[AFR][1000 genomes];1.00[AMR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130487800-130494800	Genic enhancers	K562	blood
2	chr8:130490200-130503400	Weak transcription	Dnd41	blood
3	chr8:130491600-130493800	Enhancers	Fetal Stomach	stomach
4	chr8:130492000-130494000	Enhancers	Fetal Muscle Leg	muscle
5	chr8:130492200-130493800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:130492200-130493800	Weak transcription	NHLF	lung
7	chr8:130492600-130496600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:130492800-130493800	Enhancers	Colon Smooth Muscle	Colon
9	chr8:130492800-130496600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:130492800-130496800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:130492800-130496800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:130492800-130497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:130492800-130497200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:130493000-130493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:130493000-130496200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:130493000-130496400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:130493000-130496800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:130493000-130496800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:130493000-130496800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:130493000-130497000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:130493000-130497000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:130493400-130496800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:130493400-130497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:130493600-130493800	Enhancers	Ovary	ovary
25	chr8:130493600-130497000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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