Variant report

Variant	rs374954397
Chromosome Location	chr8:96212093-96212094
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:96211919-96212245	K562	blood:	n/a	n/a
2	UBTF	chr8:96212033-96212133	K562	blood:	n/a	n/a
3	RCOR1	chr8:96211835-96212338	K562	blood:	n/a	n/a
4	NR2F2	chr8:96211812-96212226	K562	blood:	n/a	n/a
5	HDAC2	chr8:96211869-96212103	K562	blood:	n/a	n/a
6	TAL1	chr8:96211872-96212293	K562	blood:	n/a	chr8:96212204-96212213
7	ZMIZ1	chr8:96211967-96212206	K562	blood:	n/a	n/a
8	RCOR1	chr8:96211566-96212290	K562	blood:	n/a	n/a
9	TBL1XR1	chr8:96211927-96212262	K562	blood:	n/a	n/a
10	GATA1	chr8:96211419-96212574	K562	blood:	n/a	chr8:96212138-96212148
11	CCNT2	chr8:96211922-96212232	K562	blood:	n/a	n/a
12	UBTF	chr8:96212020-96212322	K562	blood:	n/a	n/a
13	TEAD4	chr8:96211851-96212253	K562	blood:	n/a	n/a
14	TEAD4	chr8:96211834-96212293	K562	blood:	n/a	n/a
15	NR2F2	chr8:96211794-96212254	K562	blood:	n/a	n/a
16	JUND	chr8:96211956-96212234	K562	blood:	n/a	n/a
17	MAZ	chr8:96211957-96212240	K562	blood:	n/a	n/a
18	ATF1	chr8:96211938-96212282	K562	blood:	n/a	n/a
19	EP300	chr8:96211877-96212246	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96210411..96213768-chr8:96214869..96218158,4	K562	blood:
2	chr8:96145520..96147593-chr8:96211677..96214625,3	MCF-7	breast:
3	chr8:96210411..96214534-chr8:96214869..96218158,4	K562	blood:
4	chr8:96171786..96172477-chr8:96211697..96212423,2	MCF-7	breast:
5	chr8:96097880..96099872-chr8:96212042..96213834,2	MCF-7	breast:
6	chr8:96205463..96207920-chr8:96210246..96213783,6	MCF-7	breast:
7	chr8:96210702..96213000-chr8:96259520..96261197,2	MCF-7	breast:
8	chr8:96205065..96207467-chr8:96211843..96213815,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253773	TF binding region
ENSG00000253773	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv516035	chr8:96208726-96235451	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465740	chr8:96211820-96235451	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv611758	chr8:96211820-96235451	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96204600-96212400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:96205000-96213400	Weak transcription	Lung	lung
3	chr8:96205600-96213800	Weak transcription	Thymus	Thymus
4	chr8:96206400-96215000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:96207400-96212800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:96208600-96216400	Weak transcription	Gastric	stomach
7	chr8:96209000-96220000	Weak transcription	Right Ventricle	heart
8	chr8:96210200-96212600	Weak transcription	Pancreas	Pancrea
9	chr8:96210200-96214600	Enhancers	Hela-S3	cervix
10	chr8:96210400-96212600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:96210400-96212600	Weak transcription	Esophagus	oesophagus
12	chr8:96210800-96212600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:96210800-96212600	Weak transcription	A549	lung
14	chr8:96210800-96214000	Weak transcription	Placenta	Placenta
15	chr8:96211000-96212400	Weak transcription	HMEC	breast
16	chr8:96211000-96212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:96211200-96212600	Weak transcription	NHEK	skin
18	chr8:96211400-96212400	Weak transcription	Fetal Thymus	thymus
19	chr8:96211400-96212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:96211600-96212400	Enhancers	HepG2	liver
21	chr8:96211800-96214200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:96212000-96212200	Enhancers	K562	blood
23	chr8:96212000-96212400	Weak transcription	Right Atrium	heart
24	chr8:96212000-96212800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:96212000-96212800	Enhancers	Stomach Mucosa	stomach
26	chr8:96212000-96218000	Enhancers	Primary B cells from peripheral blood	blood

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