Variant report

Variant	rs140196357
Chromosome Location	chr15:83477267-83477268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr15:83477118-83477633	MCF10A-Er-Src	breast:	n/a	n/a
2	KAP1	chr15:83477258-83478633	HEK293	kidney:	n/a	n/a
3	RFX5	chr15:83477087-83479037	SK-N-SH	brain:	n/a	chr15:83478322-83478331
4	RCOR1	chr15:83477120-83479262	K562	blood:	n/a	n/a
5	POLR2A	chr15:83477132-83479406	GM12892	blood:	n/a	n/a
6	SIN3AK20	chr15:83477125-83479915	MCF-7	breast:	n/a	n/a
7	POLR2A	chr15:83477220-83477840	GM12892	blood:	n/a	n/a
8	POLR2A	chr15:83477137-83480078	GM18505	blood:	n/a	n/a
9	POLR2A	chr15:83477228-83477764	GM12892	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83438498..83441390-chr15:83475483..83477867,2	K562	blood:
2	chr15:83475882..83480852-chr15:83678880..83683242,6	MCF-7	breast:
3	chr15:83396804..83398373-chr15:83475659..83477740,2	MCF-7	breast:
4	chr15:83417500..83421911-chr15:83474614..83480217,8	MCF-7	breast:
5	chr15:83476033..83478214-chr15:83679893..83681510,2	K562	blood:
6	chr15:83417832..83422548-chr15:83476028..83480956,9	K562	blood:
7	chr15:83476923..83480237-chr15:83875108..83878990,4	MCF-7	breast:
8	chr15:83417361..83424147-chr15:83476165..83481050,26	MCF-7	breast:
9	chr15:83417749..83420684-chr15:83476028..83479878,6	K562	blood:

No data

Variant related genes	Relation type
FSD2	TF binding region
WHAMM	TF binding region
ENSG00000250988	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000252690	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000260608	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	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	esv3371602	chr15:83476798-83481096	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83450400-83477600	Weak transcription	Brain Hippocampus Middle	brain
2	chr15:83469200-83477600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:83469400-83477600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:83469800-83477400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:83471000-83477600	Weak transcription	Spleen	Spleen
6	chr15:83471200-83478200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:83472000-83477800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:83472400-83478200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:83473600-83477600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:83473600-83477800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:83473800-83477400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:83473800-83477600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:83473800-83477600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:83473800-83477600	Weak transcription	NHEK	skin
15	chr15:83474000-83477400	Weak transcription	HMEC	breast
16	chr15:83474800-83477400	Weak transcription	Right Ventricle	heart
17	chr15:83474800-83477600	Weak transcription	Brain Angular Gyrus	brain
18	chr15:83475000-83477400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:83475000-83477400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr15:83475000-83477400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:83475000-83477400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr15:83475000-83477400	Weak transcription	Pancreas	Pancrea
23	chr15:83475000-83478400	Weak transcription	Left Ventricle	heart
24	chr15:83475200-83477400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:83475200-83477400	Weak transcription	HSMM	muscle
26	chr15:83475200-83477400	Weak transcription	HSMMtube	muscle
27	chr15:83475400-83477600	Weak transcription	Primary B cells from cord blood	blood
28	chr15:83475600-83477800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:83475600-83478000	Enhancers	Fetal Muscle Leg	muscle
30	chr15:83475800-83477400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr15:83476600-83477600	Enhancers	Right Atrium	heart
32	chr15:83476800-83477400	Enhancers	GM12878-XiMat	blood
33	chr15:83476800-83477600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:83477000-83477600	Weak transcription	Psoas Muscle	Psoas
35	chr15:83477000-83478000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr15:83477200-83477400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:83477200-83477400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:83477200-83477400	Enhancers	Fetal Heart	heart
39	chr15:83477200-83477400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr15:83477200-83477400	Enhancers	Hela-S3	cervix
41	chr15:83477200-83477400	Flanking Bivalent TSS/Enh	HepG2	liver
42	chr15:83477200-83477400	Enhancers	K562	blood
43	chr15:83477200-83477800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr15:83477200-83477800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr15:83477200-83477800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr15:83477200-83478000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr15:83477200-83478000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr15:83477200-83478200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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