Variant report

Variant	rs530804876
Chromosome Location	chr19:36801030-36801031
allele	A/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	chr19:36800768-36801186	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:36800869-36801089	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:36800803-36801121	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000267053	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520020	chr19:36721368-36822594	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv9715	chr19:36729688-36811749	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1063208	chr19:36743461-36847486	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv961212	chr19:36744378-36801298	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv960831	chr19:36744378-36813769	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1056901	chr19:36749658-36847486	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv511620	chr19:36749804-36801902	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv579426	chr19:36749804-36802219	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv820362	chr19:36749963-36807301	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1061054	chr19:36751703-36847486	Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1055260	chr19:36752221-36847486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1056850	chr19:36752663-36847486	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1064983	chr19:36752663-36847625	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1057579	chr19:36752663-36847822	Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
15	esv16483	chr19:36757413-36802722	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv3385690	chr19:36758212-36801810	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv3434148	chr19:36758212-36801810	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv3451584	chr19:36758212-36801810	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv3332109	chr19:36758212-36801910	ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv3396192	chr19:36758212-36801910	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
21	esv3403032	chr19:36758212-36801910	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
22	esv1817149	chr19:36760960-36801941	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
23	esv1825146	chr19:36800927-36846993	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
24	esv1837043	chr19:36800927-36846993	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36799000-36806600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:36799400-36806400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36799400-36816400	Weak transcription	Primary T cells from cord blood	blood
4	chr19:36799600-36805600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:36799600-36806600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:36799800-36809600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:36800000-36801200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
8	chr19:36800000-36801600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:36800400-36801200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:36800400-36801200	Active TSS	Fetal Brain Female	brain
11	chr19:36800400-36810000	Weak transcription	Placenta	Placenta
12	chr19:36800600-36801200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:36800600-36801200	Active TSS	Brain Cingulate Gyrus	brain
14	chr19:36800600-36801200	Active TSS	Brain Germinal Matrix	brain
15	chr19:36800600-36801200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:36800600-36801200	Enhancers	Fetal Muscle Trunk	muscle
17	chr19:36800600-36806600	Weak transcription	Fetal Stomach	stomach
18	chr19:36800600-36810400	Weak transcription	Esophagus	oesophagus
19	chr19:36800600-36811200	Weak transcription	Pancreas	Pancrea
20	chr19:36800600-36816400	Weak transcription	Ovary	ovary
21	chr19:36800600-36816600	Weak transcription	Spleen	Spleen
22	chr19:36800800-36802200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:36800800-36806400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr19:36800800-36806400	Weak transcription	Left Ventricle	heart
25	chr19:36800800-36806600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:36800800-36808200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:36800800-36810000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:36800800-36816400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:36800800-36822000	Weak transcription	Psoas Muscle	Psoas
30	chr19:36801000-36801200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr19:36801000-36801200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr19:36801000-36801200	Enhancers	Primary B cells from cord blood	blood
33	chr19:36801000-36801200	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr19:36801000-36801200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:36801000-36801200	Enhancers	Adipose Nuclei	Adipose
36	chr19:36801000-36801200	Active TSS	Brain Anterior Caudate	brain
37	chr19:36801000-36801200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr19:36801000-36801200	Enhancers	Right Ventricle	heart
39	chr19:36801000-36801200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr19:36801000-36801800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr19:36801000-36806600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr19:36801000-36810200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:36801000-36816400	Weak transcription	Stomach Smooth Muscle	stomach

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