Variant report

Variant	rs114503517
Chromosome Location	chr19:35987179-35987180
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	chr19:35985973-35987194	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr19:35987040-35987190	GM12873	blood:	n/a	n/a
3	CTCF	chr19:35986940-35987230	GM12868	blood:	n/a	n/a
4	POLR2A	chr19:35986954-35987282	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr19:35985678-35987248	A549	lung:	n/a	n/a
6	POLR2A	chr19:35986986-35987215	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:35985821-35987231	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:35985384..35987874-chr19:36000035..36002510,2	MCF-7	breast:
2	chr19:35985581..35988105-chr19:35990432..35992271,2	MCF-7	breast:
3	chr19:35985467..35988273-chr19:35990400..35992597,2	K562	blood:

Variant related genes	Relation type
KRTDAP	TF binding region
ENSG00000161249	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv833811	chr19:35850257-36029535	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv978907	chr19:35987077-35993083	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35983800-35988000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr19:35984800-35987200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:35986200-35987200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr19:35986400-35987200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr19:35986400-35989400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:35986400-35989800	Weak transcription	Aorta	Aorta
7	chr19:35986400-35992400	Weak transcription	Brain Anterior Caudate	brain
8	chr19:35986400-35994000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:35986400-35999600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:35986400-36000000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:35986400-36000600	Weak transcription	Right Atrium	heart
12	chr19:35986600-35987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:35986600-35988200	Weak transcription	Fetal Intestine Small	intestine
14	chr19:35986600-35989600	Weak transcription	Fetal Intestine Large	intestine
15	chr19:35986600-35992600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr19:35986600-35993800	Weak transcription	Spleen	Spleen
17	chr19:35986800-35988000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:35986800-35988600	Weak transcription	Fetal Stomach	stomach
19	chr19:35986800-35988800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:35986800-35989400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:35986800-35989400	Weak transcription	Pancreas	Pancrea
22	chr19:35986800-35989400	Weak transcription	NHEK	skin
23	chr19:35986800-35989600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr19:35986800-35989600	Weak transcription	Lung	lung
25	chr19:35986800-35989600	Weak transcription	Ovary	ovary
26	chr19:35986800-35989800	Weak transcription	Liver	Liver
27	chr19:35986800-35989800	Weak transcription	HMEC	breast
28	chr19:35986800-35991200	Weak transcription	Esophagus	oesophagus
29	chr19:35986800-35991600	Weak transcription	Fetal Lung	lung
30	chr19:35986800-35992000	Weak transcription	GM12878-XiMat	blood
31	chr19:35986800-35992600	Weak transcription	Brain Angular Gyrus	brain
32	chr19:35986800-35995200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr19:35986800-35996400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:35986800-36000200	Weak transcription	Gastric	stomach
35	chr19:35986800-36000400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr19:35987000-35987800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:35987000-35988000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:35987000-35988000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr19:35987000-35988000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:35987000-35988200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:35987000-35989000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:35987000-35990400	Weak transcription	HepG2	liver
43	chr19:35987000-35990800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:35987000-35992200	Weak transcription	Placenta Amnion	Placenta Amnion

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