Variant report

Variant	rs2725287
Chromosome Location	chr8:48675485-48675486
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	chr8:48674421..48677276-chr8:48679644..48681662,2	K562	blood:
2	chr8:48649995..48651833-chr8:48673119..48675757,2	K562	blood:

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1016915	chr8:48653136-48710849	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv539597	chr8:48653136-48710849	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3395290	chr8:48674299-48678697	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48665200-48676000	Weak transcription	A549	lung
2	chr8:48665400-48675800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:48672600-48676200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:48673000-48676000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:48673000-48676200	Weak transcription	K562	blood
6	chr8:48673400-48676200	Weak transcription	HSMM	muscle
7	chr8:48673400-48676400	Weak transcription	HepG2	liver
8	chr8:48674000-48675600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:48674000-48684400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:48674600-48677400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:48674800-48677800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:48674800-48684400	Weak transcription	Dnd41	blood
13	chr8:48674800-48686200	Weak transcription	Brain Substantia Nigra	brain
14	chr8:48674800-48686400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:48675000-48686600	Weak transcription	HSMMtube	muscle
16	chr8:48675200-48675800	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr8:48675200-48676000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:48675200-48676000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:48675200-48676000	Enhancers	Placenta	Placenta
20	chr8:48675200-48676000	Weak transcription	Gastric	stomach
21	chr8:48675200-48676000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr8:48675200-48676400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:48675200-48678200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr8:48675200-48684200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:48675200-48686600	Weak transcription	Brain Angular Gyrus	brain
26	chr8:48675400-48675600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:48675400-48675600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:48675400-48675600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:48675400-48675600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:48675400-48675600	Active TSS	Esophagus	oesophagus
31	chr8:48675400-48675600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr8:48675400-48675800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr8:48675400-48675800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr8:48675400-48675800	Active TSS	NHEK	skin
35	chr8:48675400-48676000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:48675400-48676000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:48675400-48676000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr8:48675400-48676000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
39	chr8:48675400-48676400	Enhancers	Spleen	Spleen
40	chr8:48675400-48677400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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