Variant report

Variant	rs563857983
Chromosome Location	chr15:82335393-82335394
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	RAD21	chr15:82335387-82336161	IMR90	lung:	n/a	n/a
2	SIN3A	chr15:82335328-82340684	H1-hESC	embryonic stem cell:	n/a	chr15:82339224-82339235 chr15:82339725-82339736 chr15:82337260-82337271 chr15:82337592-82337605 chr15:82339681-82339694 chr15:82337106-82337119 chr15:82340224-82340233 chr15:82337030-82337043 chr15:82339354-82339363 chr15:82339845-82339856
3	MXI1	chr15:82334810-82340509	SK-N-SH	brain:	n/a	n/a
4	RAD21	chr15:82335274-82336149	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr15:82335310-82337155	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr15:82335390-82336123	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTBP2	chr15:82335336-82336316	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr15:82335321-82336126	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr15:82335324-82335703	SK-N-SH_RA	brain:	n/a	n/a
10	SMC3	chr15:82335239-82340296	SK-N-SH	brain:	n/a	chr15:82339359-82339369 chr15:82338241-82338251
11	MAX	chr15:82335355-82336160	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:82095888..82097859-chr15:82332803..82335499,2	K562	blood:
2	chr15:82333925..82335787-chr15:82348964..82351774,2	MCF-7	breast:
3	chr15:82330594..82336594-chr15:82336813..82340577,9	K562	blood:
4	chr15:82333605..82336369-chr15:82346217..82348896,2	MCF-7	breast:
5	chr15:82299760..82303058-chr15:82332264..82335755,3	K562	blood:

Variant related genes	Relation type
ENSG00000222521	TF binding region
ENSG00000183496	Chromatin interaction
ENSG00000259622	Chromatin interaction

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	nsv833067	chr15:82234980-82450485	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2422504	chr15:82293064-82426400	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv827415	chr15:82333348-82340769	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3344827	chr15:82334647-82340995	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82332000-82335400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:82332000-82335400	Weak transcription	Spleen	Spleen
3	chr15:82332200-82335600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr15:82332400-82335400	Weak transcription	HUVEC	blood vessel
5	chr15:82333000-82335400	Weak transcription	Right Ventricle	heart
6	chr15:82333000-82335400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr15:82333400-82335400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:82333400-82335400	Weak transcription	Ovary	ovary
9	chr15:82333400-82335600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr15:82333400-82335600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:82333400-82336000	Weak transcription	Osteobl	bone
12	chr15:82333600-82335400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:82333600-82335400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:82333600-82335400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:82333600-82335400	Weak transcription	Gastric	stomach
16	chr15:82333600-82335400	Weak transcription	Left Ventricle	heart
17	chr15:82333600-82335400	Weak transcription	Pancreas	Pancrea
18	chr15:82333600-82335400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr15:82333600-82335600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr15:82333600-82335600	Weak transcription	Brain Anterior Caudate	brain
21	chr15:82333600-82336400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr15:82333600-82336400	Weak transcription	Right Atrium	heart
23	chr15:82333600-82336600	Weak transcription	Psoas Muscle	Psoas
24	chr15:82333600-82336600	Weak transcription	A549	lung
25	chr15:82333800-82335400	Weak transcription	Dnd41	blood
26	chr15:82333800-82335400	Strong transcription	HSMM	muscle
27	chr15:82334000-82336000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:82334200-82335400	Weak transcription	NHLF	lung
29	chr15:82334200-82336400	Weak transcription	NHDF-Ad	bronchial
30	chr15:82334200-82336600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
31	chr15:82334400-82335400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:82334400-82335800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:82334400-82336000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:82334800-82335400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:82334800-82337000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:82334800-82337400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
37	chr15:82335000-82335400	Strong transcription	Fetal Thymus	thymus
38	chr15:82335000-82335800	Active TSS	Brain Cingulate Gyrus	brain
39	chr15:82335000-82335800	Genic enhancers	Fetal Lung	lung
40	chr15:82335000-82336000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:82335000-82336200	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr15:82335000-82336400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:82335000-82336400	Active TSS	Brain Angular Gyrus	brain
44	chr15:82335000-82336600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:82335000-82336600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
46	chr15:82335000-82336600	Enhancers	Fetal Heart	heart
47	chr15:82335000-82340600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:82335200-82335400	Active TSS	H1 Cell Line	embryonic stem cell
49	chr15:82335200-82335400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:82335200-82335400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

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