Variant report

Variant	rs2127035
Chromosome Location	chr8:102542441-102542442
allele	C/T
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	POLR2A	chr8:102541969-102542591	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000253991	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10505010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776316	0.81[CEU][hapmap];0.84[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11783704	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12114930	0.92[GIH][hapmap]
rs13263539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17397776	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17397811	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17476242	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1880635	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2127034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34216075	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6984360	0.84[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs922466	0.96[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2127035	DCAF13	cis	parietal	SCAN

Chromatin state (count:31 , 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	chr8:102528400-102550600	Weak transcription	Esophagus	oesophagus
6	chr8:102533800-102550200	Weak transcription	HMEC	breast
7	chr8:102533800-102551400	Weak transcription	Pancreas	Pancrea
8	chr8:102536000-102550200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:102536800-102550200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:102538200-102550400	Weak transcription	Placenta	Placenta
11	chr8:102539200-102550200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:102539800-102550200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:102540400-102543400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:102541400-102544200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:102541600-102542600	Strong transcription	NHEK	skin
16	chr8:102541600-102544600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:102541600-102545400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:102541800-102542800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:102542000-102542600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:102542000-102542600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:102542000-102542600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:102542000-102542800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:102542000-102543000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:102542000-102543600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:102542200-102542600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr8:102542200-102542600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr8:102542200-102542600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:102542200-102542800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:102542200-102544400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr8:102542200-102545200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr8:102542400-102550200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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