Variant report

Variant	rs550180300
Chromosome Location	chr15:43659752-43659753
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	POLR2A	chr15:43659700-43659818	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:43659153-43659836	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:43641400..43644347-chr15:43658323..43660227,2	K562	blood:
2	chr15:43632397..43634657-chr15:43658728..43661211,2	K562	blood:
3	chr15:43621397..43624186-chr15:43658342..43659938,2	K562	blood:

Variant related genes	Relation type
TUBGCP4	TF binding region
ENSG00000168806	Chromatin interaction
ENSG00000168803	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	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1512	chr15:43616834-43661646	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	esv2618501	chr15:43659722-43661347	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43649800-43660000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
2	chr15:43649800-43660200	ZNF genes & repeats	Fetal Muscle Leg	muscle
3	chr15:43650200-43659800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:43650200-43660400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
5	chr15:43650200-43661600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:43650600-43661400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:43650800-43659800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:43650800-43660200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:43651000-43659800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr15:43651000-43660000	ZNF genes & repeats	Fetal Lung	lung
11	chr15:43651000-43660200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr15:43651000-43660400	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr15:43654000-43660000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:43654000-43660000	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:43654000-43660200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:43654000-43661200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:43654000-43661200	Strong transcription	Placenta	Placenta
18	chr15:43654200-43659800	Strong transcription	Brain Cingulate Gyrus	brain
19	chr15:43654200-43659800	Strong transcription	Rectal Smooth Muscle	rectum
20	chr15:43654400-43662000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr15:43654600-43659800	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr15:43654600-43661800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:43654800-43659800	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:43654800-43661000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr15:43654800-43661000	Weak transcription	Stomach Mucosa	stomach
26	chr15:43654800-43661200	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr15:43654800-43661400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:43654800-43661800	Strong transcription	HSMM	muscle
29	chr15:43655000-43660000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:43655000-43660400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr15:43655200-43659800	ZNF genes & repeats	Fetal Stomach	stomach
32	chr15:43655200-43661000	Strong transcription	K562	blood
33	chr15:43655200-43661400	Strong transcription	NHDF-Ad	bronchial
34	chr15:43655400-43660000	Strong transcription	Fetal Intestine Large	intestine
35	chr15:43655800-43661000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:43656000-43660600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr15:43656000-43660600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr15:43656000-43661400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:43656000-43661600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:43656200-43660000	Strong transcription	NH-A	brain
41	chr15:43656200-43661600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr15:43656400-43659800	Strong transcription	Osteobl	bone
43	chr15:43656400-43660000	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr15:43656400-43660000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr15:43656400-43660600	Strong transcription	HMEC	breast
46	chr15:43656400-43661800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr15:43656600-43660000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr15:43656600-43660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:43656600-43660200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr15:43656600-43660800	Weak transcription	Primary T cells fromperipheralblood	blood

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