Variant report

Variant	rs497026
Chromosome Location	chr8:102542131-102542132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr8:102541941-102542274	H1-hESC	embryonic stem cell:	n/a	n/a
2	EP300	chr8:102541943-102542275	H1-hESC	embryonic stem cell:	n/a	n/a
3	NANOG	chr8:102541922-102542186	H1-hESC	embryonic stem cell:	n/a	chr8:102542100-102542109
4	JUND	chr8:102541975-102542200	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL11A	chr8:102541977-102542218	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr8:102541969-102542591	MCF-7	breast:	n/a	n/a
7	HDAC2	chr8:102541952-102542223	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000253991	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2211919	1.00[JPT][hapmap]
rs605019	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024652	chr8:101802121-102587124	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
2	nsv539699	chr8:101802121-102587124	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102527000-102551200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:102527000-102551400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:102527200-102555400	Weak transcription	Fetal Intestine Small	intestine
4	chr8:102527200-102556800	Weak transcription	Fetal Intestine Large	intestine
5	chr8:102528000-102542200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:102528400-102550600	Weak transcription	Esophagus	oesophagus
7	chr8:102533800-102550200	Weak transcription	HMEC	breast
8	chr8:102533800-102551400	Weak transcription	Pancreas	Pancrea
9	chr8:102536000-102550200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:102536800-102550200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:102538200-102550400	Weak transcription	Placenta	Placenta
12	chr8:102539200-102542200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:102539200-102550200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:102539800-102550200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:102540400-102543400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:102540600-102542200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:102540800-102542200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:102541000-102542200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:102541200-102542200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:102541400-102544200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr8:102541600-102542600	Strong transcription	NHEK	skin
22	chr8:102541600-102544600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:102541600-102545400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:102541800-102542800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:102542000-102542200	Enhancers	A549	lung
26	chr8:102542000-102542400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:102542000-102542600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:102542000-102542600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:102542000-102542600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:102542000-102542800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:102542000-102543000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:102542000-102543600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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