Variant report

Variant	rs16916994
Chromosome Location	chr8:95713543-95713544
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	POLR2A	chr8:95713538-95713560	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:95713523-95713719	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:95713368-95713981	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:95713516-95713788	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95712537..95715222-chr8:95715844..95717909,2	K562	blood:

Variant related genes	Relation type
ESRP1	TF binding region
ENSG00000104413	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10101523	0.81[CHB][hapmap]
rs11986843	0.86[EUR][1000 genomes]
rs11991001	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12176630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs12547930	0.81[CHB][hapmap]
rs13262255	0.81[CHB][hapmap]
rs17718793	0.90[CHB][hapmap]
rs2722875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722882	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735324	0.81[CHB][hapmap]
rs6471483	0.84[CHB][hapmap]
rs7000241	0.86[EUR][1000 genomes]
rs73697004	0.82[EUR][1000 genomes]
rs7387701	0.81[CHB][hapmap]
rs7826057	0.81[CHB][hapmap]
rs7844431	0.81[CHB][hapmap]
rs9642929	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 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	chr8:95680600-95718400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:95690600-95722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:95698600-95714200	Weak transcription	Fetal Kidney	kidney
4	chr8:95700400-95719800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:95702400-95719800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:95702400-95720400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:95702600-95719400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:95702600-95720200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:95702800-95720200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:95703200-95716800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:95704200-95719400	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr8:95704400-95714200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr8:95705000-95714400	Weak transcription	Gastric	stomach
14	chr8:95705600-95714200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:95705800-95719800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:95706000-95714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:95706000-95718800	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr8:95706200-95720600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:95706600-95714600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr8:95706600-95717800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:95707000-95714000	Strong transcription	NHEK	skin
22	chr8:95707800-95718800	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr8:95708200-95714600	Strong transcription	Fetal Intestine Large	intestine
24	chr8:95710600-95718800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:95710800-95722200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr8:95711000-95717800	Weak transcription	Lung	lung
27	chr8:95711200-95718400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:95711600-95717200	Strong transcription	Fetal Intestine Small	intestine
29	chr8:95712600-95714000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:95712600-95728800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:95712800-95714000	Weak transcription	Pancreas	Pancrea
32	chr8:95712800-95715600	Weak transcription	HMEC	breast
33	chr8:95712800-95717800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:95712800-95717800	Weak transcription	Colonic Mucosa	Colon
35	chr8:95712800-95718200	Weak transcription	Placenta	Placenta
36	chr8:95712800-95718400	Weak transcription	Stomach Mucosa	stomach
37	chr8:95712800-95720200	Weak transcription	Esophagus	oesophagus
38	chr8:95713000-95714000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:95713000-95715600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:95713000-95730600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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