Variant report

Variant	rs6468847
Chromosome Location	chr8:103940219-103940220
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	USF1	chr8:103939613-103940248	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr8:103939552-103940246	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103939891..103942069-chr8:103943605..103945175,2	K562	blood:

Variant related genes	Relation type
ENSG00000253320	TF binding region
RPL5P24	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1000156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11988501	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28613197	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35644318	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6468841	0.84[CEU][hapmap];0.87[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6468849	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988956	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6991188	0.85[TSI][hapmap]
rs7015831	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7833563	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841632	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs939061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv512057	chr8:103939859-103942374	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2571691	chr8:103940142-103941851	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103927800-103941600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:103931800-103941600	Weak transcription	Fetal Kidney	kidney
3	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
4	chr8:103934800-103941400	Weak transcription	Liver	Liver
5	chr8:103937400-103942000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:103937600-103941800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:103937600-103942000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:103937800-103942000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:103937800-103942200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:103937800-103956000	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:103938200-103941600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:103938200-103941600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:103938200-103942000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:103938200-103942200	Weak transcription	Fetal Lung	lung
15	chr8:103938200-103942200	Weak transcription	Hela-S3	cervix
16	chr8:103938200-103943600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:103938200-103947200	Weak transcription	Right Atrium	heart
18	chr8:103938400-103941600	Weak transcription	GM12878-XiMat	blood
19	chr8:103938600-103941600	Weak transcription	Fetal Intestine Small	intestine
20	chr8:103939000-103940600	Enhancers	Pancreas	Pancrea
21	chr8:103939000-103941600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:103939000-103941600	Weak transcription	Gastric	stomach
23	chr8:103939000-103941600	Weak transcription	Stomach Mucosa	stomach
24	chr8:103939000-103941600	Weak transcription	K562	blood
25	chr8:103939000-103941800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:103939200-103940400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:103939400-103940400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:103939400-103940400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr8:103939800-103940400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:103939800-103940400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:103939800-103940400	Enhancers	Fetal Intestine Large	intestine
32	chr8:103939800-103940600	Enhancers	HepG2	liver
33	chr8:103940000-103940400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:103940000-103940400	Enhancers	A549	lung
35	chr8:103940000-103941600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:103940200-103940400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr8:103940200-103940400	Enhancers	Placenta	Placenta
38	chr8:103940200-103941600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr8:103940200-103941600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:103940200-103941600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:103940200-103941600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:103940200-103941600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:103940200-103941600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:103940200-103941600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:103940200-103941800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:103940200-103941800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:103940200-103943200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:103940200-103972600	Weak transcription	Ovary	ovary

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