Variant report

Variant	rs150416573
Chromosome Location	chr10:43707194-43707195
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	EGR1	chr10:43707056-43707326	K562	blood:	n/a	chr10:43707179-43707189 chr10:43707178-43707191 chr10:43707178-43707191 chr10:43707177-43707192 chr10:43707179-43707188 chr10:43707179-43707190 chr10:43707178-43707191 chr10:43707177-43707191
2	CTCF	chr10:43707100-43707250	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:43705914..43707657-chr10:43711294..43713443,2	MCF-7	breast:
2	chr10:43705829..43707653-chr10:43720065..43721565,2	K562	blood:
3	chr10:43705495..43708277-chr10:43710722..43714581,3	K562	blood:

Variant related genes	Relation type
RASGEF1A	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription 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	17 gene(s)	inside rSNPs	diseases
8	esv1831010	chr10:43674916-43759185	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv895084	chr10:43688505-43765485	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv466881	chr10:43695049-43799588	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv550696	chr10:43695049-43799588	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv895085	chr10:43695049-43804617	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv3314696	chr10:43707162-43708095	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3314707	chr10:43707162-43708095	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43698000-43722800	Weak transcription	Gastric	stomach
2	chr10:43698200-43707400	Weak transcription	Brain Substantia Nigra	brain
3	chr10:43698400-43710800	Weak transcription	Esophagus	oesophagus
4	chr10:43699400-43716800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr10:43699400-43724600	Weak transcription	Right Atrium	heart
6	chr10:43701200-43707200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:43705800-43708000	Enhancers	Fetal Brain Female	brain
8	chr10:43705800-43708400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr10:43706000-43707200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:43706000-43708200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:43706200-43707200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr10:43706200-43707600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:43706200-43707600	Enhancers	Brain Angular Gyrus	brain
14	chr10:43706200-43707800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr10:43706200-43708000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:43706200-43708200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:43706200-43708200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr10:43706200-43708200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr10:43706200-43708200	Enhancers	HMEC	breast
20	chr10:43706400-43707400	Weak transcription	Fetal Brain Male	brain
21	chr10:43706400-43708000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:43706400-43708200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:43706600-43708600	Enhancers	Brain Hippocampus Middle	brain
24	chr10:43706800-43707600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:43706800-43707600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:43706800-43708600	Enhancers	Fetal Heart	heart
27	chr10:43706800-43709800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:43706800-43711600	Weak transcription	Spleen	Spleen
29	chr10:43707000-43707200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:43707000-43708000	Enhancers	Stomach Smooth Muscle	stomach
31	chr10:43707000-43708000	Enhancers	HSMMtube	muscle
32	chr10:43707000-43708400	Enhancers	Brain Anterior Caudate	brain

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