Variant report

Variant	rs56818599
Chromosome Location	chr10:99468318-99468319
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	chr10:99466814-99468501	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr10:99466622-99471094	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr10:99466722-99468455	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:99467434..99470349-chr10:99491482..99494563,3	MCF-7	breast:
2	chr10:99464473..99466388-chr10:99467350..99469682,2	MCF-7	breast:
3	chr10:99431862..99434859-chr10:99467271..99469904,2	MCF-7	breast:
4	chr10:99466947..99470987-chr10:99489059..99494674,5	MCF-7	breast:
5	chr10:99461782..99463448-chr10:99466822..99468685,2	MCF-7	breast:

Variant related genes	Relation type
MARVELD1	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11556394	1.00[AMR][1000 genomes]
rs58040561	1.00[AMR][1000 genomes]
rs58090494	1.00[AMR][1000 genomes]
rs59403844	1.00[AMR][1000 genomes]
rs59410931	1.00[AMR][1000 genomes]
rs6584150	1.00[AMR][1000 genomes]
rs7086155	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322513	1.00[AMR][1000 genomes]
rs73322524	1.00[AMR][1000 genomes]
rs73322563	1.00[AMR][1000 genomes]
rs73324603	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324645	1.00[AMR][1000 genomes]
rs73324684	1.00[AMR][1000 genomes]
rs73324696	1.00[AMR][1000 genomes]
rs73326503	1.00[AMR][1000 genomes]
rs73326520	1.00[AMR][1000 genomes]
rs73326524	1.00[AMR][1000 genomes]
rs73332794	1.00[AMR][1000 genomes]
rs73332796	1.00[AMR][1000 genomes]
rs73334504	1.00[AMR][1000 genomes]
rs73334529	1.00[AMR][1000 genomes]
rs73334558	1.00[AMR][1000 genomes]
rs73334560	1.00[AMR][1000 genomes]
rs73334562	1.00[AMR][1000 genomes]
rs73334566	1.00[AMR][1000 genomes]
rs74155508	1.00[AMR][1000 genomes]
rs7914710	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7915140	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 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	chr10:99461800-99468800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr10:99462000-99468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:99462000-99468800	Weak transcription	NHDF-Ad	bronchial
4	chr10:99462000-99472800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:99462200-99468800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:99462200-99469000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:99463800-99468800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:99465200-99469000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:99465200-99469000	Weak transcription	NHLF	lung
10	chr10:99466000-99472600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:99466400-99472600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr10:99466600-99468400	Enhancers	Liver	Liver
13	chr10:99466800-99468400	Flanking Active TSS	HepG2	liver
14	chr10:99467200-99469800	Enhancers	Fetal Heart	heart
15	chr10:99467200-99469800	Enhancers	Fetal Muscle Leg	muscle
16	chr10:99467200-99469800	Enhancers	Ovary	ovary
17	chr10:99467200-99471800	Weak transcription	Spleen	Spleen
18	chr10:99467400-99468400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:99467400-99469000	Weak transcription	Fetal Intestine Small	intestine
20	chr10:99467400-99469800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr10:99467400-99470000	Enhancers	Rectal Smooth Muscle	rectum
22	chr10:99467600-99468800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr10:99467600-99469800	Enhancers	Colon Smooth Muscle	Colon
24	chr10:99467800-99469000	Weak transcription	Aorta	Aorta
25	chr10:99468000-99469800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr10:99468200-99468400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:99468200-99468600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:99468200-99468600	Enhancers	Right Atrium	heart
29	chr10:99468200-99468600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr10:99468200-99468600	Weak transcription	HSMMtube	muscle
31	chr10:99468200-99468800	Weak transcription	Fetal Stomach	stomach

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