Variant report

Variant	rs7253352
Chromosome Location	chr19:19253197-19253198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19253185-19253235	A549	lung:	n/a
2	chr19:19253185-19253235	HAEpiC	amniotic membrane:	n/a
3	chr19:19253185-19253235	HRE	kidney:	n/a
4	chr19:19253185-19253235	HNPCEpiC	eye:	n/a
5	chr19:19253185-19253235	AG09319	gingival:	n/a
6	chr19:19253185-19253235	PrEC	prostate:	n/a
7	chr19:19253185-19253235	Hela-S3	cervix:	n/a
8	chr19:19253185-19253235	AoSMC	blood vessel:	n/a
9	chr19:19253185-19253235	HL-60	blood:	n/a
10	chr19:19253185-19253235	PANC-1	pancreas:	n/a
11	chr19:19253185-19253235	U87	brain:	n/a
12	chr19:19253185-19253235	Jurkat	blood:	n/a
13	chr19:19253185-19253235	H1-hESC	embryonic stem cell:	embryo
14	chr19:19253185-19253235	HCF	heart:	n/a
15	chr19:19253185-19253235	RPTEC	kidney:	n/a
16	chr19:19253185-19253235	HPAEpiC	pulmonary alveolar:	n/a
17	chr19:19253185-19253235	NHBE	bronchial:	n/a
18	chr19:19253185-19253235	ProgFib	skin:	n/a
19	chr19:19253185-19253235	HepG2	liver:	n/a
20	chr19:19253185-19253235	Caco-2	colon:	n/a
21	chr19:19253185-19253235	CMK	blood:	n/a
22	chr19:19253185-19253235	GM12891	blood:	n/a
23	chr19:19253185-19253235	GM19239	blood:	n/a
24	chr19:19253185-19253235	K562	blood:	n/a
25	chr19:19253185-19253235	SK-N-MC	brain:	n/a
26	chr19:19253185-19253235	HCM	heart:	n/a
27	chr19:19253185-19253235	HEK293	kidney:	embryo
28	chr19:19253185-19253235	PFSK-1	brain:	n/a
29	chr19:19253185-19253235	HMEC	breast:	n/a
30	chr19:19253185-19253235	HUVEC	blood vessel:	n/a
31	chr19:19253185-19253235	ECC-1	luminal epithelium:	n/a
32	chr19:19253185-19253235	AG04449	skin:	fetal
33	chr19:19253185-19253235	AG04450	lung:	fetal
34	chr19:19253185-19253235	MCF10A-Er-Src	breast:	n/a
35	chr19:19253185-19253235	SK-N-SH_RA	brain:	n/a
36	chr19:19253185-19253235	HCT-116	colon:	n/a
37	chr19:19253185-19253235	NT2-D1	testis:	n/a
38	chr19:19253185-19253235	NB4	blood:	n/a
39	chr19:19253185-19253235	SK-N-SH	brain:	n/a
40	chr19:19253185-19253235	SKMC	muscle:	n/a
41	chr19:19253185-19253235	T-47D	breast:	n/a
42	chr19:19253185-19253235	SAEC	small airway:	n/a
43	chr19:19253185-19253235	Hepatocyte	liver:	n/a
44	chr19:19253185-19253235	ovcar-3	ovarian:	n/a
45	chr19:19253185-19253235	AG09309	skin:	n/a
46	chr19:19253185-19253235	BJ	skin:	n/a
47	chr19:19253185-19253235	HCPEpiC	choroid plexus:	n/a
48	chr19:19253185-19253235	HRPEpiC	eye:	n/a
49	chr19:19253185-19253235	HIPEpiC	eye:	n/a
50	chr19:19253185-19253235	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19248422..19250264-chr19:19251474..19254382,2	K562	blood:

No data

Variant related genes	Relation type
TMEM161A	CpG island
ENSG00000064545	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10421947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7249142	0.84[JPT][hapmap]
rs7257072	0.81[CHB][hapmap];0.84[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7253352	RAB8A	cis	parietal	SCAN
rs7253352	MAST3	cis	cerebellum	SCAN
rs7253352	AP1M1	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19249200-19256600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:19249400-19256600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:19249400-19256800	Weak transcription	Lung	lung
4	chr19:19249400-19257400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:19249400-19259600	Weak transcription	Aorta	Aorta
6	chr19:19249400-19259800	Weak transcription	Left Ventricle	heart
7	chr19:19249400-19271200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:19249600-19256800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:19249600-19257400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:19249600-19257600	Weak transcription	Brain Hippocampus Middle	brain
11	chr19:19249600-19258400	Weak transcription	Right Atrium	heart
12	chr19:19249600-19271800	Weak transcription	Brain Substantia Nigra	brain
13	chr19:19249600-19282600	Weak transcription	NHLF	lung
14	chr19:19249800-19256600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:19249800-19256800	Weak transcription	Ovary	ovary
16	chr19:19249800-19256800	Weak transcription	K562	blood
17	chr19:19249800-19256800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr19:19249800-19257200	Weak transcription	GM12878-XiMat	blood
19	chr19:19249800-19257400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:19249800-19257400	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:19249800-19257400	Weak transcription	Spleen	Spleen
22	chr19:19249800-19258400	Weak transcription	Dnd41	blood
23	chr19:19249800-19258800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:19249800-19259600	Weak transcription	Primary T cells from cord blood	blood
25	chr19:19249800-19259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:19249800-19260000	Weak transcription	Brain Anterior Caudate	brain
27	chr19:19249800-19261800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr19:19249800-19269000	Weak transcription	Brain Angular Gyrus	brain
29	chr19:19249800-19271200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr19:19249800-19280600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:19250000-19256600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr19:19250000-19257400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:19250000-19261400	Weak transcription	HepG2	liver
34	chr19:19250000-19266800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr19:19250600-19254200	Weak transcription	Thymus	Thymus
36	chr19:19250600-19256000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr19:19250600-19256800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr19:19250600-19256800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr19:19250600-19257200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr19:19250600-19271800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:19250800-19256600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr19:19250800-19256600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:19251200-19256800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr19:19251200-19257400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:19251400-19256800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:19251600-19256200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:19252200-19256800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:19252800-19272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr19:19253000-19253400	Enhancers	Liver	Liver

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