Variant report

Variant	rs549153993
Chromosome Location	chr8:99018036-99018037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:99017920-99018070	HCPEpiC	choroid plexus:	n/a	n/a
2	TEAD4	chr8:99017868-99018268	H1-hESC	embryonic stem cell:	n/a	chr8:99018168-99018177
3	HDAC2	chr8:99017896-99018120	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr8:99017904-99018110	H1-hESC	embryonic stem cell:	n/a	n/a
5	HDAC2	chr8:99017797-99018206	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr8:99017845-99018130	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr8:99017925-99018358	H1-hESC	embryonic stem cell:	n/a	n/a
8	NANOG	chr8:99017745-99018418	H1-hESC	embryonic stem cell:	n/a	chr8:99018304-99018313
9	RAD21	chr8:99017711-99018225	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr8:99017831-99018186	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTBP2	chr8:99017502-99018449	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF143	chr8:99017864-99018239	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr8:99017679-99018283	H1-hESC	embryonic stem cell:	n/a	n/a
14	TEAD4	chr8:99017771-99018261	H1-hESC	embryonic stem cell:	n/a	chr8:99018168-99018177
15	CHD2	chr8:99017849-99018338	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr8:99017909-99018344	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr8:99017769-99018265	H1-hESC	embryonic stem cell:	n/a	n/a
18	TBP	chr8:99017859-99018165	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr8:99017990-99018043	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF12	chr8:99017881-99018093	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99015593..99019656-chr8:99049212..99053715,4	MCF-7	breast:

No data

Variant related genes	Relation type
MATN2	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv15294	chr8:99017130-99025235	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98992600-99019400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
3	chr8:99009000-99030000	Weak transcription	Pancreas	Pancrea
4	chr8:99009000-99030200	Weak transcription	Esophagus	oesophagus
5	chr8:99009600-99022600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:99012000-99028800	Weak transcription	Aorta	Aorta
7	chr8:99012000-99032000	Weak transcription	Gastric	stomach
8	chr8:99012400-99028800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:99013800-99018600	Weak transcription	Fetal Intestine Small	intestine
10	chr8:99014000-99022400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:99014200-99025400	Genic enhancers	Fetal Muscle Leg	muscle
12	chr8:99014200-99029600	Weak transcription	Fetal Intestine Large	intestine
13	chr8:99014600-99019600	Weak transcription	Liver	Liver
14	chr8:99014600-99019800	Weak transcription	Fetal Lung	lung
15	chr8:99014600-99020000	Weak transcription	HSMM	muscle
16	chr8:99014600-99021200	Enhancers	Brain Cingulate Gyrus	brain
17	chr8:99014600-99021400	Enhancers	Brain Hippocampus Middle	brain
18	chr8:99014800-99018200	Weak transcription	NH-A	brain
19	chr8:99014800-99022600	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr8:99014800-99023000	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:99015000-99018200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:99015000-99019800	Weak transcription	NHDF-Ad	bronchial
23	chr8:99015000-99020000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:99015000-99034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:99015200-99022000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:99015200-99023600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:99015400-99018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:99015400-99021200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:99015800-99023800	Weak transcription	Spleen	Spleen
30	chr8:99016400-99021400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr8:99016400-99021400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:99016600-99018800	Genic enhancers	Fetal Stomach	stomach
33	chr8:99016600-99019800	Enhancers	Brain Substantia Nigra	brain
34	chr8:99016600-99020600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:99016600-99021400	Enhancers	Brain Angular Gyrus	brain
36	chr8:99016600-99021400	Enhancers	Brain Anterior Caudate	brain
37	chr8:99016800-99018400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:99016800-99018800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:99016800-99023000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:99017000-99018200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:99017000-99018200	Enhancers	Right Atrium	heart
42	chr8:99017000-99019000	Enhancers	HSMMtube	muscle
43	chr8:99017000-99020200	Weak transcription	Osteobl	bone
44	chr8:99017000-99025400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr8:99017200-99018400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr8:99017200-99018400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:99017200-99018600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:99017200-99018800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:99017200-99018800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:99017200-99020000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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