Variant report

Variant	rs142294636
Chromosome Location	chr19:36643714-36643715
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	chr19:36641509-36643957	A549	lung:	n/a	n/a
2	POLR2A	chr19:36643548-36643861	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr19:36643034-36643908	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr19:36643445-36643934	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:36642512-36643885	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr19:36641062-36644106	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36630678..36632307-chr19:36642468..36644265,2	K562	blood:
2	chr19:36635447..36638773-chr19:36641889..36645478,3	K562	blood:

Variant related genes	Relation type
ENSG00000270760	TF binding region
COX7A1	TF binding region
ENSG00000126247	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv911643	chr19:36627790-36651499	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv911645	chr19:36628463-36651499	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv911647	chr19:36629631-36651499	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv579425	chr19:36643695-36685753	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36632800-36644400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:36632800-36645600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:36633000-36644800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:36633000-36645600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:36633000-36645600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:36633000-36645600	Strong transcription	A549	lung
7	chr19:36633400-36645000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:36636000-36650400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:36638400-36661600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:36640600-36652000	Weak transcription	K562	blood
11	chr19:36640800-36644000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:36641400-36652200	Weak transcription	GM12878-XiMat	blood
13	chr19:36641600-36643800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
14	chr19:36641600-36644000	Active TSS	Fetal Kidney	kidney
15	chr19:36641800-36650600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr19:36641800-36652000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:36641800-36652000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:36642000-36643800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr19:36642000-36643800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
20	chr19:36642000-36644000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:36642000-36644000	Active TSS	Osteobl	bone
22	chr19:36642000-36660000	Weak transcription	Stomach Mucosa	stomach
23	chr19:36642200-36643800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr19:36642200-36643800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:36642200-36643800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:36642200-36643800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:36642200-36643800	Active TSS	Brain Hippocampus Middle	brain
28	chr19:36642200-36643800	Active TSS	Colon Smooth Muscle	Colon
29	chr19:36642200-36643800	Active TSS	Fetal Lung	lung
30	chr19:36642200-36643800	Active TSS	Left Ventricle	heart
31	chr19:36642200-36644000	Active TSS	Brain Angular Gyrus	brain
32	chr19:36642200-36644000	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr19:36642200-36644000	Active TSS	Psoas Muscle	Psoas
34	chr19:36642200-36644000	Active TSS	Right Atrium	heart
35	chr19:36642200-36644000	Flanking Active TSS	HUVEC	blood vessel
36	chr19:36642200-36644000	Active TSS	NHDF-Ad	bronchial
37	chr19:36642200-36644200	Active TSS	Aorta	Aorta
38	chr19:36642200-36644200	Active TSS	Right Ventricle	heart
39	chr19:36642200-36646400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr19:36642200-36650400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr19:36642200-36654200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:36642200-36660000	Weak transcription	Brain Substantia Nigra	brain
43	chr19:36642200-36660000	Weak transcription	Hela-S3	cervix
44	chr19:36642200-36673400	Weak transcription	Primary B cells from cord blood	blood
45	chr19:36642400-36643800	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr19:36642400-36643800	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:36642400-36643800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr19:36642400-36643800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr19:36642400-36643800	Active TSS	Esophagus	oesophagus
50	chr19:36642400-36643800	Active TSS	Fetal Brain Female	brain

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