Variant report

Variant	rs998980
Chromosome Location	chr8:96205920-96205921
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96073668..96076397-chr8:96204920..96206874,2	MCF-7	breast:
2	chr8:96205065..96207467-chr8:96211843..96213815,3	MCF-7	breast:
3	chr8:96163106..96166154-chr8:96205325..96207933,3	MCF-7	breast:
4	chr8:96205630..96207268-chr8:96208398..96210868,2	K562	blood:
5	chr8:96203357..96206821-chr8:96279416..96281679,3	MCF-7	breast:
6	chr8:96203613..96205936-chr8:96222642..96224693,2	MCF-7	breast:
7	chr8:96202933..96207621-chr8:96217016..96224905,7	MCF-7	breast:
8	chr8:96204685..96206421-chr8:96234538..96236078,2	MCF-7	breast:
9	chr8:96200453..96203080-chr8:96203459..96205990,2	K562	blood:
10	chr8:96205463..96207920-chr8:96210246..96213783,6	MCF-7	breast:
11	chr8:96204194..96207440-chr8:96236906..96239736,3	MCF-7	breast:
12	chr8:96193279..96197671-chr8:96202932..96206464,6	MCF-7	breast:
13	chr8:96113223..96116394-chr8:96203733..96206616,4	MCF-7	breast:
14	chr8:96145911..96148634-chr8:96205437..96208430,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253773	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96201800-96206800	Enhancers	Fetal Thymus	thymus
2	chr8:96202600-96206000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:96202600-96206200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:96203600-96208200	Weak transcription	Right Ventricle	heart
5	chr8:96203800-96206400	Enhancers	Hela-S3	cervix
6	chr8:96204200-96206000	Enhancers	Placenta	Placenta
7	chr8:96204400-96206400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:96204400-96208200	Weak transcription	Gastric	stomach
9	chr8:96204600-96206600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:96204600-96212400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:96204800-96206000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:96204800-96206000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:96204800-96206000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:96204800-96206600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:96205000-96206400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:96205000-96208000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:96205000-96213400	Weak transcription	Lung	lung
18	chr8:96205600-96210200	Weak transcription	HMEC	breast
19	chr8:96205600-96213800	Weak transcription	Thymus	Thymus
20	chr8:96205800-96207000	Weak transcription	Esophagus	oesophagus
21	chr8:96205800-96207000	Weak transcription	HSMMtube	muscle
22	chr8:96205800-96207600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:96205800-96208200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:96205800-96208200	Weak transcription	NHEK	skin

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