Variant report

Variant	rs571049016
Chromosome Location	chr19:38187711-38187712
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	chr19:38187450-38187791	MCF-7	breast:	n/a	n/a
2	POLR2A	chr19:38187410-38188087	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr19:38187550-38187835	MCF-7	breast:	n/a	n/a
4	POLR2A	chr19:38187579-38187713	K562	blood:	n/a	n/a
5	POLR2A	chr19:38187496-38187783	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr19:38187453-38187774	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38134173..38137861-chr19:38186479..38189500,3	K562	blood:

Variant related genes	Relation type
ZNF781	TF binding region
ENSG00000267319	TF binding region
ZFP30	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv978813	chr19:38187175-38188871	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38183200-38208800	Weak transcription	Fetal Heart	heart
2	chr19:38183400-38188800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr19:38183400-38190000	Weak transcription	Stomach Mucosa	stomach
4	chr19:38183600-38187800	Weak transcription	Primary B cells from cord blood	blood
5	chr19:38183600-38187800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr19:38183600-38188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:38183600-38188800	Weak transcription	Fetal Kidney	kidney
8	chr19:38183600-38189400	Weak transcription	Psoas Muscle	Psoas
9	chr19:38183600-38190000	Weak transcription	Small Intestine	intestine
10	chr19:38184200-38187800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:38184200-38188600	Weak transcription	Fetal Brain Male	brain
12	chr19:38184200-38201200	Weak transcription	Colonic Mucosa	Colon
13	chr19:38184400-38187800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:38184400-38208800	Weak transcription	HepG2	liver
15	chr19:38186400-38191200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr19:38186800-38189200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr19:38186800-38189800	Strong transcription	Fetal Stomach	stomach
18	chr19:38186800-38191200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:38187000-38207800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:38187000-38208000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:38187200-38187800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:38187200-38190800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:38187200-38191600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:38187400-38187800	Strong transcription	Brain Hippocampus Middle	brain
25	chr19:38187400-38187800	ZNF genes & repeats	Fetal Intestine Large	intestine
26	chr19:38187400-38187800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
27	chr19:38187400-38188000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:38187400-38188000	ZNF genes & repeats	Pancreas	Pancrea
29	chr19:38187400-38188000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
30	chr19:38187400-38188200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:38187400-38188200	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr19:38187400-38188200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr19:38187400-38188200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:38187400-38188200	Strong transcription	Right Ventricle	heart
35	chr19:38187400-38188200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
36	chr19:38187400-38188200	ZNF genes & repeats	Spleen	Spleen
37	chr19:38187400-38188400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:38187400-38188400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:38187400-38188400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr19:38187400-38188400	ZNF genes & repeats	Aorta	Aorta
41	chr19:38187400-38188400	ZNF genes & repeats	Esophagus	oesophagus
42	chr19:38187400-38188400	Strong transcription	Fetal Intestine Small	intestine
43	chr19:38187400-38188400	ZNF genes & repeats	Gastric	stomach
44	chr19:38187400-38188400	ZNF genes & repeats	Lung	lung
45	chr19:38187400-38188400	ZNF genes & repeats	Ovary	ovary
46	chr19:38187400-38188400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr19:38187400-38188600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr19:38187400-38188600	Strong transcription	Brain Substantia Nigra	brain
49	chr19:38187400-38189000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:38187400-38189200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle

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