Variant report

Variant	rs527529126
Chromosome Location	chr19:41681075-41681076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41680953..41683356-chr19:41768146..41770884,2	MCF-7	breast:
2	chr19:41678854..41681708-chr19:41768595..41770762,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105323	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	esv3391909	chr19:41632754-41688263	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv911767	chr19:41649516-41716271	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv11798	chr19:41679821-41681119	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv523521	chr19:41680424-41702426	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv911768	chr19:41680424-41748753	Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41666000-41681800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:41677600-41681600	Enhancers	Fetal Intestine Large	intestine
3	chr19:41678400-41681800	Enhancers	Duodenum Mucosa	Duodenum
4	chr19:41678800-41681600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:41678800-41681600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:41679000-41681400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr19:41679000-41681800	Enhancers	Placenta	Placenta
8	chr19:41679200-41681200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:41679200-41681200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr19:41679200-41681800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr19:41679200-41681800	Enhancers	Fetal Intestine Small	intestine
12	chr19:41679400-41681600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:41679400-41681600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:41679400-41681800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:41679800-41681600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:41680200-41681800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:41680200-41682800	Enhancers	Stomach Mucosa	stomach
18	chr19:41680400-41682400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr19:41680600-41681200	Active TSS	Fetal Stomach	stomach
20	chr19:41680600-41681400	Flanking Active TSS	HepG2	liver
21	chr19:41680600-41681600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr19:41680600-41681800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:41680600-41681800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr19:41680600-41682800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr19:41680600-41683000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr19:41680800-41681200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:41680800-41681400	Flanking Active TSS	A549	lung
28	chr19:41680800-41682200	Enhancers	Esophagus	oesophagus
29	chr19:41680800-41682600	Weak transcription	Colonic Mucosa	Colon
30	chr19:41680800-41683400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr19:41681000-41681200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr19:41681000-41681400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr19:41681000-41681400	Weak transcription	Hela-S3	cervix
34	chr19:41681000-41681600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:41681000-41681600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr19:41681000-41681600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:41681000-41681600	Weak transcription	Brain Hippocampus Middle	brain
38	chr19:41681000-41681800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:41681000-41681800	Weak transcription	Gastric	stomach
40	chr19:41681000-41681800	Weak transcription	Lung	lung
41	chr19:41681000-41681800	Enhancers	NHEK	skin
42	chr19:41681000-41682000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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