Variant report

Variant	rs199628783
Chromosome Location	chr15:43661243-43661244
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	POLR2A	chr15:43661129-43661750	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:43661124-43661415	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:43661060-43663929	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:43660982-43661711	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43660016..43662796-chr15:43702586..43705983,3	K562	blood:
2	chr15:43620486..43624109-chr15:43661175..43665421,4	K562	blood:

Variant related genes	Relation type
TUBGCP4	TF binding region
ENSG00000168806	Chromatin interaction
ENSG00000168803	Chromatin interaction
ENSG00000067369	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	chr15:43650200-43661600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:43650600-43661400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:43654400-43662000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:43654600-43661800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:43654800-43661400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:43654800-43661800	Strong transcription	HSMM	muscle
7	chr15:43655200-43661400	Strong transcription	NHDF-Ad	bronchial
8	chr15:43656000-43661400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:43656000-43661600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:43656200-43661600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:43656400-43661800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:43656600-43661400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr15:43656600-43661800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr15:43656800-43661800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:43656800-43661800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr15:43657800-43661800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:43658000-43661400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:43658800-43661800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:43659000-43661600	Weak transcription	Brain Substantia Nigra	brain
20	chr15:43659200-43661400	Weak transcription	HSMMtube	muscle
21	chr15:43659200-43662200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:43659600-43661400	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:43659800-43661600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:43659800-43661800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr15:43659800-43661800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr15:43659800-43661800	Enhancers	Fetal Heart	heart
27	chr15:43659800-43662000	Weak transcription	Aorta	Aorta
28	chr15:43659800-43662000	Weak transcription	Esophagus	oesophagus
29	chr15:43660000-43661600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr15:43660000-43661600	Genic enhancers	Monocytes-CD14+_RO01746	blood
31	chr15:43660000-43661800	Weak transcription	NHLF	lung
32	chr15:43660000-43662000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:43660000-43662000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr15:43660000-43662000	Weak transcription	NH-A	brain
35	chr15:43660000-43662000	Weak transcription	Osteobl	bone
36	chr15:43660000-43662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:43660200-43661400	Enhancers	HepG2	liver
38	chr15:43660200-43661800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:43660200-43661800	Weak transcription	Colonic Mucosa	Colon
40	chr15:43660200-43662000	Weak transcription	Fetal Kidney	kidney
41	chr15:43660400-43661600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr15:43660400-43661800	Weak transcription	Primary T cells from cord blood	blood
43	chr15:43660600-43661800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:43660600-43661800	Weak transcription	HMEC	breast
45	chr15:43660800-43661600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
46	chr15:43660800-43661600	Enhancers	Fetal Brain Male	brain
47	chr15:43661000-43661400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:43661000-43661400	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:43661000-43661400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:43661000-43661400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood

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