Variant report

Variant	rs34094904
Chromosome Location	chr19:19902020-19902021
allele	-/GA
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	chr19:19901921-19902278	GM12891	blood:	n/a	n/a
2	POLR2A	chr19:19901845-19902099	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr19:19901767-19902271	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:19901730-19902231	GM12891	blood:	n/a	n/a
5	POLR2A	chr19:19901800-19902596	GM12891	blood:	n/a	n/a
6	FOXA1	chr19:19901974-19902387	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19885449..19887952-chr19:19901599..19903328,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267481	TF binding region
ENSG00000267419	Chromatin interaction
ENSG00000266904	Chromatin interaction

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	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv911312	chr19:19861682-19917662	Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv458375	chr19:19863014-19949209	Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv578798	chr19:19863014-19949209	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv911313	chr19:19866371-19936078	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv911314	chr19:19866371-20021046	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
8	nsv911315	chr19:19872093-20021046	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv911316	chr19:19890450-20021046	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv578799	chr19:19901136-19967970	ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19888200-19902200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:19888400-19927800	Weak transcription	Psoas Muscle	Psoas
3	chr19:19888600-19904000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:19888600-19906400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr19:19888600-19906800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:19888600-19909000	Weak transcription	K562	blood
7	chr19:19888600-19911000	Weak transcription	HUVEC	blood vessel
8	chr19:19888600-19931800	Weak transcription	Fetal Heart	heart
9	chr19:19888800-19904000	Weak transcription	Hela-S3	cervix
10	chr19:19889600-19904600	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:19890400-19902600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:19894200-19904400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:19895000-19931200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:19895400-19908200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr19:19895400-19914800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:19895400-19914800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:19895600-19902800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:19895600-19903000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr19:19895600-19903200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:19895600-19903400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:19895600-19904200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr19:19895600-19907200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr19:19895600-19909000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr19:19895600-19909000	ZNF genes & repeats	Liver	Liver
25	chr19:19895600-19914800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr19:19895600-19915000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr19:19895800-19903000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr19:19895800-19903400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:19895800-19908200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:19895800-19914800	Strong transcription	Dnd41	blood
31	chr19:19896000-19903600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:19896000-19909200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:19896200-19903000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr19:19896400-19903200	Strong transcription	Fetal Brain Female	brain
35	chr19:19896400-19903400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:19896600-19905400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:19896600-19905800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:19896800-19908000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:19897000-19903000	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr19:19897000-19903200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:19897000-19904400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:19897000-19904400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:19897200-19902200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr19:19897200-19903200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:19897200-19903400	Strong transcription	Brain Angular Gyrus	brain
46	chr19:19897200-19903400	Strong transcription	Fetal Muscle Leg	muscle
47	chr19:19897200-19903800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:19897200-19904000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr19:19897200-19904200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:19897200-19904600	Strong transcription	Osteobl	bone

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