Variant report

Variant	rs73547948
Chromosome Location	chr19:39891128-39891129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39837705..39840014-chr19:39891010..39893848,2	MCF-7	breast:
2	chr19:39890843..39892874-chr19:40028629..40030722,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
4	nsv870133	chr19:39822160-39938468	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	nsv911682	chr19:39847132-39914748	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
6	nsv911683	chr19:39847132-39924129	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
7	nsv911684	chr19:39886218-39923863	Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
8	nsv911685	chr19:39888449-39948779	Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
9	esv3318773	chr19:39890112-39895210	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	esv3318775	chr19:39890112-39895210	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39883000-39891800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:39883200-39891600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:39883200-39892400	Weak transcription	Fetal Brain Male	brain
4	chr19:39883200-39892400	Weak transcription	Fetal Kidney	kidney
5	chr19:39885000-39892600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:39886200-39892000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:39886200-39892400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr19:39886800-39893400	Weak transcription	Aorta	Aorta
9	chr19:39886800-39893400	Weak transcription	Ovary	ovary
10	chr19:39888000-39892400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr19:39888000-39893600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:39888000-39893600	Enhancers	Stomach Mucosa	stomach
13	chr19:39888200-39892000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:39888200-39892000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr19:39888200-39892600	Weak transcription	Fetal Brain Female	brain
16	chr19:39888800-39892000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:39888800-39892000	Weak transcription	Brain Substantia Nigra	brain
18	chr19:39888800-39892200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr19:39888800-39892200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:39888800-39892200	Weak transcription	Fetal Heart	heart
21	chr19:39888800-39892400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:39888800-39892400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:39889000-39891600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr19:39889000-39891800	Weak transcription	Right Atrium	heart
25	chr19:39889000-39892000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr19:39889000-39892000	Enhancers	Primary T cells from cord blood	blood
27	chr19:39889000-39892000	Enhancers	Adipose Nuclei	Adipose
28	chr19:39889000-39892200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr19:39889000-39893000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr19:39889200-39891600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr19:39889200-39891800	Enhancers	Duodenum Mucosa	Duodenum
32	chr19:39889200-39892000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr19:39889200-39892000	Weak transcription	Brain Hippocampus Middle	brain
34	chr19:39889200-39892200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:39889200-39892400	Weak transcription	HUVEC	blood vessel
36	chr19:39889200-39893000	Enhancers	Fetal Intestine Large	intestine
37	chr19:39889400-39891600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr19:39889400-39891600	Enhancers	Primary B cells from cord blood	blood
39	chr19:39889400-39891800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:39889400-39891800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:39889400-39893400	Weak transcription	Psoas Muscle	Psoas
42	chr19:39889600-39891600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr19:39889600-39891600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr19:39889600-39891800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:39889600-39891800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:39889600-39891800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr19:39889600-39891800	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr19:39889600-39891800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:39889600-39891800	Enhancers	Colonic Mucosa	Colon
50	chr19:39889600-39891800	Weak transcription	Gastric	stomach

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