Variant report

Variant	rs60777009
Chromosome Location	chr19:39412304-39412305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39411587-39412636	K562	blood:	n/a	n/a
2	POLR2A	chr19:39411024-39412667	GM12892	blood:	n/a	n/a
3	POLR2A	chr19:39411618-39412387	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:39411965-39413469	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:39411331-39412950	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:39412006-39412360	HL-60	blood:	n/a	n/a
7	POLR2A	chr19:39411980-39412597	GM12891	blood:	n/a	n/a
8	POLR2A	chr19:39411953-39412355	K562	blood:	n/a	n/a
9	POLR2A	chr19:39411429-39412584	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:39411952-39412367	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:39411971-39412513	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr19:39410749-39413573	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr19:39411973-39412320	GM12891	blood:	n/a	n/a
14	POLR2A	chr19:39411983-39412329	A549	lung:	n/a	n/a
15	POLR2A	chr19:39412064-39412423	HepG2	liver:	n/a	n/a
16	ZBTB7A	chr19:39412178-39412356	K562	blood:	n/a	n/a
17	POLR2A	chr19:39412303-39412320	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr19:39411650-39412599	K562	blood:	n/a	n/a
19	POLR2A	chr19:39411976-39412371	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr19:39412089-39412359	A549	lung:	n/a	n/a
21	POLR2A	chr19:39412022-39412506	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39388836..39392687-chr19:39409083..39412619,5	K562	blood:
2	chr19:39337019..39338579-chr19:39410355..39412359,2	MCF-7	breast:
3	chr19:39411214..39414705-chr19:39419221..39421908,4	MCF-7	breast:
4	chr19:39411897..39413585-chr19:39419804..39422534,2	K562	blood:

No data

Variant related genes	Relation type
SARS2	TF binding region
ENSG00000104835	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000104825	Chromatin interaction
ENSG00000128626	Chromatin interaction
ENSG00000068903	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs57420699	1.00[ASN][1000 genomes]

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	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv3378202	chr19:39409312-39413510	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39391200-39420800	Weak transcription	Small Intestine	intestine
2	chr19:39391600-39414800	Weak transcription	HMEC	breast
3	chr19:39391600-39420600	Weak transcription	Right Atrium	heart
4	chr19:39392400-39414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:39392600-39414600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:39392600-39418800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:39395600-39414800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr19:39395600-39415000	Weak transcription	Hela-S3	cervix
9	chr19:39398000-39412400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:39398000-39420600	Weak transcription	Psoas Muscle	Psoas
11	chr19:39398600-39415000	Weak transcription	Brain Substantia Nigra	brain
12	chr19:39398800-39412400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr19:39398800-39415000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:39399000-39412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:39399800-39414800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr19:39399800-39414800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:39400000-39414200	Weak transcription	Left Ventricle	heart
18	chr19:39400200-39412600	Weak transcription	Primary B cells from cord blood	blood
19	chr19:39400200-39412800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:39402800-39420200	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:39403000-39412400	Weak transcription	Fetal Thymus	thymus
22	chr19:39403000-39415000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:39403400-39412400	Weak transcription	Fetal Brain Female	brain
24	chr19:39403600-39412400	Weak transcription	Fetal Lung	lung
25	chr19:39403600-39412400	Weak transcription	GM12878-XiMat	blood
26	chr19:39403600-39420400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr19:39403800-39412400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:39403800-39420200	Weak transcription	Fetal Brain Male	brain
29	chr19:39405400-39413600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:39406000-39412400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:39406000-39414800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr19:39406400-39412400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:39406400-39412400	Weak transcription	Adipose Nuclei	Adipose
34	chr19:39406400-39420000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:39406600-39412400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr19:39406800-39412400	Weak transcription	Thymus	Thymus
37	chr19:39406800-39420200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:39407000-39412400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:39409000-39412400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:39409000-39414200	Weak transcription	Colonic Mucosa	Colon
41	chr19:39409000-39417400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:39409200-39412400	Weak transcription	Fetal Intestine Large	intestine
43	chr19:39409200-39412400	Weak transcription	Pancreas	Pancrea
44	chr19:39409200-39419000	Strong transcription	Fetal Intestine Small	intestine
45	chr19:39409200-39420400	Weak transcription	Stomach Mucosa	stomach
46	chr19:39409600-39412400	Weak transcription	Placenta	Placenta
47	chr19:39409600-39418400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr19:39409800-39412600	Weak transcription	NH-A	brain
49	chr19:39410000-39413200	Strong transcription	Dnd41	blood
50	chr19:39410000-39413400	Strong transcription	Primary T cells from cord blood	blood

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