Variant report

Variant	rs587713168
Chromosome Location	chr15:83314825-83314826
allele	A/C
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	MAZ	chr15:83314805-83317083	K562	blood:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
2	HEY1	chr15:83314783-83315918	K562	blood:	n/a	chr15:83315194-83315209
3	MYC	chr15:83314815-83316876	K562	blood:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023
4	UBTF	chr15:83314779-83316748	K562	blood:	n/a	n/a
5	E2F4	chr15:83314805-83316795	K562	blood:	n/a	chr15:83315361-83315375 chr15:83316357-83316367 chr15:83315968-83315977 chr15:83315984-83315999 chr15:83315862-83315874 chr15:83315682-83315689 chr15:83315358-83315372 chr15:83316377-83316384
6	CBX3	chr15:83314795-83316810	K562	blood:	n/a	n/a
7	TBP	chr15:83314797-83317060	K562	blood:	n/a	n/a
8	MAX	chr15:83314596-83317120	K562	blood:	n/a	chr15:83316013-83316022 chr15:83316011-83316019 chr15:83316463-83316472 chr15:83316011-83316024 chr15:83316013-83316022 chr15:83316449-83316458 chr15:83315414-83315425 chr15:83316462-83316473 chr15:83316011-83316024 chr15:83316011-83316024 chr15:83316012-83316023

No.	Distal block	Cell Line	Cell type
1	chr15:83313668..83318129-chr15:83416864..83421207,8	K562	blood:
2	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
3	chr15:83314747..83316448-chr15:83680031..83681739,2	K562	blood:
4	chr15:83313759..83319278-chr15:83347483..83351536,8	K562	blood:
5	chr15:83314418..83317134-chr15:83417560..83419673,2	MCF-7	breast:
6	chr15:83216717..83218665-chr15:83313410..83315739,2	K562	blood:

Variant related genes	Relation type
ENSG00000259462	TF binding region
ENSG00000250988	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000156232	Chromatin interaction

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	nsv1035899	chr15:83108446-83315731	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv3344877	chr15:83294946-83316565	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak 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	43 gene(s)	inside rSNPs	diseases
9	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS 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	43 gene(s)	inside rSNPs	diseases
13	esv1808975	chr15:83307574-83360168	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	esv3434026	chr15:83314547-83318195	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83306400-83315000	Weak transcription	Pancreas	Pancrea
2	chr15:83313400-83315000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:83313800-83315000	Weak transcription	Brain Angular Gyrus	brain
4	chr15:83313800-83315000	Weak transcription	Brain Substantia Nigra	brain
5	chr15:83314000-83315000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:83314000-83315400	Active TSS	K562	blood
7	chr15:83314800-83315000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr15:83314800-83315000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr15:83314800-83315000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:83314800-83315000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:83314800-83315000	Bivalent Enhancer	Adipose Nuclei	Adipose
12	chr15:83314800-83315000	Bivalent Enhancer	Colon Smooth Muscle	Colon
13	chr15:83314800-83315000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr15:83314800-83315000	Bivalent/Poised TSS	Right Ventricle	heart
15	chr15:83314800-83315000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
16	chr15:83314800-83315000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
17	chr15:83314800-83315200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:83314800-83315200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
19	chr15:83314800-83315200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr15:83314800-83315200	Bivalent Enhancer	Brain Germinal Matrix	brain
21	chr15:83314800-83315200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:83314800-83315400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:83314800-83315400	Active TSS	Brain Anterior Caudate	brain
24	chr15:83314800-83315400	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr15:83314800-83315600	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr15:83314800-83315800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr15:83314800-83315800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr15:83314800-83315800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr15:83314800-83315800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr15:83314800-83315800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:83314800-83317200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr15:83314800-83317600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr15:83314800-83317600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:83314800-83317800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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