Variant report

Variant	rs12985428
Chromosome Location	chr19:39414109-39414110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39414056-39415761	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr19:39412811-39414665	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39338289..39340175-chr19:39412991..39414800,2	K562	blood:
2	chr19:39334351..39336976-chr19:39412590..39415295,2	K562	blood:
3	chr19:39413074..39415034-chr19:39423613..39425226,2	K562	blood:
4	chr19:39341116..39343070-chr19:39413366..39415101,2	K562	blood:
5	chr19:39411214..39414705-chr19:39419221..39421908,4	MCF-7	breast:

No data

Variant related genes	Relation type
SARS2	TF binding region
ENSG00000128626	Chromatin interaction
ENSG00000269688	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000104835	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10425217	0.83[EUR][1000 genomes]
rs11083489	0.82[EUR][1000 genomes]
rs11668245	0.82[EUR][1000 genomes]
rs12462710	0.86[EUR][1000 genomes]
rs17545254	0.87[EUR][1000 genomes]
rs4803034	0.82[EUR][1000 genomes]
rs730078	0.81[EUR][1000 genomes]
rs7508411	0.82[EUR][1000 genomes]
rs7508539	0.83[EUR][1000 genomes]
rs9749516	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12985428	CTC-360G5.9	cis	Nerve Tibial	GTEx

Chromatin state (count:123 , 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	chr19:39398000-39420600	Weak transcription	Psoas Muscle	Psoas
10	chr19:39398600-39415000	Weak transcription	Brain Substantia Nigra	brain
11	chr19:39398800-39415000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:39399800-39414800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr19:39399800-39414800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:39400000-39414200	Weak transcription	Left Ventricle	heart
15	chr19:39402800-39420200	Weak transcription	Colon Smooth Muscle	Colon
16	chr19:39403000-39415000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:39403600-39420400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:39403800-39420200	Weak transcription	Fetal Brain Male	brain
19	chr19:39406000-39414800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:39406400-39420000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:39406800-39420200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:39409000-39414200	Weak transcription	Colonic Mucosa	Colon
23	chr19:39409000-39417400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:39409200-39419000	Strong transcription	Fetal Intestine Small	intestine
25	chr19:39409200-39420400	Weak transcription	Stomach Mucosa	stomach
26	chr19:39409600-39418400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:39410000-39417400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr19:39410200-39417600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:39410400-39414600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:39410600-39414800	Weak transcription	NHDF-Ad	bronchial
31	chr19:39411200-39415000	Weak transcription	HSMM	muscle
32	chr19:39411400-39415000	Weak transcription	HUVEC	blood vessel
33	chr19:39411400-39419000	Strong transcription	Fetal Stomach	stomach
34	chr19:39411600-39417000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:39411600-39420400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:39411600-39420400	Weak transcription	Fetal Heart	heart
37	chr19:39411800-39417200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr19:39412000-39416600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:39412000-39417000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr19:39412000-39417200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:39412000-39417200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:39412000-39417600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:39412000-39419000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:39412000-39419600	Strong transcription	Fetal Muscle Leg	muscle
45	chr19:39412200-39417000	Strong transcription	Right Ventricle	heart
46	chr19:39412200-39417400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr19:39412200-39419200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:39412400-39415600	Strong transcription	Pancreas	Pancrea
49	chr19:39412400-39416600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:39412400-39417200	Strong transcription	Fetal Intestine Large	intestine

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