Variant report

Variant	rs555987655
Chromosome Location	chr8:124409972-124409973
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	E2F4	chr8:124407644-124410228	MCF10A-Er-Src	breast:	n/a	chr8:124409072-124409084 chr8:124408970-124408981 chr8:124408746-124408758 chr8:124408685-124408696 chr8:124408971-124408978 chr8:124409016-124409025 chr8:124408971-124408979 chr8:124408971-124408982 chr8:124408665-124408680 chr8:124408971-124408979 chr8:124408970-124408978 chr8:124408984-124408993 chr8:124408682-124408699 chr8:124408972-124408987 chr8:124408970-124408980
2	E2F6	chr8:124409830-124410403	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124408566..124410301-chr8:124410632..124412919,2	MCF-7	breast:
2	chr8:124406056..124410111-chr8:124427174..124433258,8	MCF-7	breast:
3	chr8:124406688..124410730-chr8:124426992..124430866,9	K562	blood:
4	chr8:124405499..124410730-chr8:124426606..124431705,19	K562	blood:
5	chr8:124404505..124411576-chr8:124423647..124430734,19	MCF-7	breast:
6	chr8:124283412..124288800-chr8:124404176..124410687,11	K562	blood:
7	chr8:124283826..124290020-chr8:124406062..124410538,8	MCF-7	breast:
8	chr8:124286665..124288585-chr8:124408066..124410491,3	K562	blood:
9	chr8:124409346..124411086-chr8:124417132..124419397,2	K562	blood:

Variant related genes	Relation type
IMPDH1P6	TF binding region
ATAD2	TF binding region
ENSG00000165156	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000254294	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv971698	chr8:124409783-124416455	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124409000-124412800	Weak transcription	Gastric	stomach
2	chr8:124409000-124412800	Weak transcription	Pancreas	Pancrea
3	chr8:124409200-124413000	Weak transcription	Esophagus	oesophagus
4	chr8:124409200-124413000	Weak transcription	Lung	lung
5	chr8:124409200-124415600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:124409400-124410200	Enhancers	K562	blood
7	chr8:124409400-124412800	Weak transcription	Fetal Intestine Small	intestine
8	chr8:124409400-124412800	Weak transcription	Fetal Stomach	stomach
9	chr8:124409400-124413000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:124409400-124413200	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:124409400-124413600	Weak transcription	Fetal Brain Male	brain
12	chr8:124409400-124414000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:124409400-124415400	Weak transcription	Liver	Liver
14	chr8:124409400-124415800	Weak transcription	Fetal Intestine Large	intestine
15	chr8:124409400-124415800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:124409400-124419200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:124409400-124421400	Weak transcription	Right Ventricle	heart
18	chr8:124409400-124424800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:124409400-124427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:124409400-124427600	Weak transcription	A549	lung
21	chr8:124409400-124428000	Weak transcription	Brain Anterior Caudate	brain
22	chr8:124409600-124410000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr8:124409600-124412600	Weak transcription	HepG2	liver
24	chr8:124409600-124414800	Weak transcription	Fetal Heart	heart
25	chr8:124409600-124417800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:124409600-124424600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:124409600-124424800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:124409800-124410200	Enhancers	Dnd41	blood
29	chr8:124409800-124415800	Weak transcription	Hela-S3	cervix
30	chr8:124409800-124424600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:124409800-124427800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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