Variant report

Variant	rs532819493
Chromosome Location	chr10:99345288-99345289
allele	G/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	ESR1	chr10:99345131-99345517	T-47D	breast:	n/a	n/a
2	TFAP2A	chr10:99345158-99345538	Hela-S3	cervix:	n/a	chr10:99345328-99345343
3	MAX	chr10:99344459-99345598	HepG2	liver:	n/a	chr10:99345024-99345037 chr10:99345026-99345035 chr10:99345026-99345035
4	MAX	chr10:99344671-99345657	HepG2	liver:	n/a	chr10:99345024-99345037 chr10:99345026-99345035 chr10:99345026-99345035
5	TFAP2C	chr10:99345023-99345525	Hela-S3	cervix:	n/a	chr10:99345328-99345343

No.	Distal block	Cell Line	Cell type
1	chr10:99331295..99331846-chr10:99344716..99345312,2	MCF-7	breast:
2	chr10:99345242..99348489-chr10:99349078..99351813,3	K562	blood:
3	chr10:99329733..99337149-chr10:99338392..99346753,19	MCF-7	breast:
4	chr10:99331139..99331795-chr10:99344716..99345483,2	MCF-7	breast:
5	chr10:99342912..99345937-chr10:99348140..99351473,3	K562	blood:

Variant related genes	Relation type
C10orf62	TF binding region
ENSG00000165887	Chromatin interaction
ENSG00000203942	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
2	nsv1047359	chr10:99306501-99369013	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv818782	chr10:99337572-99350128	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv971896	chr10:99338341-99349551	Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv975816	chr10:99344579-99354694	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99336000-99348800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:99343000-99346600	Enhancers	Fetal Heart	heart
3	chr10:99343200-99345600	Enhancers	Fetal Muscle Leg	muscle
4	chr10:99343400-99345400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr10:99343400-99345400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:99343400-99345400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:99343400-99345600	Enhancers	NHEK	skin
8	chr10:99343400-99346400	Enhancers	Adipose Nuclei	Adipose
9	chr10:99343400-99346600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:99343600-99345600	Flanking Active TSS	HepG2	liver
11	chr10:99343600-99345600	Enhancers	NHDF-Ad	bronchial
12	chr10:99343600-99345800	Enhancers	Placenta	Placenta
13	chr10:99343800-99345400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr10:99344000-99349000	Weak transcription	Fetal Stomach	stomach
15	chr10:99344200-99345400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr10:99344200-99345400	Flanking Active TSS	Hela-S3	cervix
17	chr10:99344200-99345600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr10:99344200-99346600	Flanking Active TSS	Liver	Liver
19	chr10:99344200-99347000	Enhancers	Right Atrium	heart
20	chr10:99344200-99348800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:99344600-99345400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:99344600-99346400	Active TSS	Fetal Kidney	kidney
23	chr10:99344600-99346800	Enhancers	Brain Hippocampus Middle	brain
24	chr10:99344800-99346200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr10:99344800-99348800	Weak transcription	Fetal Intestine Small	intestine
26	chr10:99344800-99349000	Weak transcription	Brain Angular Gyrus	brain
27	chr10:99344800-99349600	Weak transcription	Fetal Intestine Large	intestine
28	chr10:99345000-99345400	Enhancers	K562	blood
29	chr10:99345000-99345600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:99345000-99345600	Enhancers	Brain Anterior Caudate	brain
31	chr10:99345000-99345600	Enhancers	Lung	lung
32	chr10:99345000-99347000	Enhancers	Brain Substantia Nigra	brain
33	chr10:99345000-99347000	Enhancers	A549	lung
34	chr10:99345000-99348600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr10:99345200-99345600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:99345200-99345600	Flanking Active TSS	Left Ventricle	heart
37	chr10:99345200-99345600	Flanking Active TSS	Right Ventricle	heart
38	chr10:99345200-99345800	Flanking Active TSS	Pancreas	Pancrea
39	chr10:99345200-99346600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:99345200-99348800	Weak transcription	Fetal Muscle Trunk	muscle

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