Variant report

Variant	rs2082436
Chromosome Location	chr19:39426145-39426146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr19:39426022-39426309	K562	blood:	n/a	n/a
2	POLR2A	chr19:39425022-39426396	SK-N-MC	brain:	n/a	n/a
3	CBX3	chr19:39425918-39426464	K562	blood:	n/a	n/a
4	ZNF143	chr19:39426044-39426316	H1-hESC	embryonic stem cell:	n/a	n/a
5	KAP1	chr19:39426107-39426317	U2OS	brain:	n/a	n/a
6	POLR2A	chr19:39426102-39426297	K562	blood:	n/a	n/a
7	TRIM28	chr19:39425927-39426412	K562	blood:	n/a	n/a
8	TRIM28	chr19:39425855-39426475	K562	blood:	n/a	n/a
9	POLR2A	chr19:39418846-39427915	PANC-1	pancreas:	n/a	n/a
10	CBX3	chr19:39425863-39426445	K562	blood:	n/a	n/a
11	SETDB1	chr19:39425969-39426406	K562	blood:	n/a	n/a
12	SETDB1	chr19:39425720-39426589	U2OS	brain:	n/a	n/a
13	KAP1	chr19:39425657-39426607	K562	blood:	n/a	n/a
14	POLR2A	chr19:39419835-39427960	PANC-1	pancreas:	n/a	n/a
15	SETDB1	chr19:39425171-39426878	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39421479..39423080-chr19:39424950..39427056,2	MCF-7	breast:
2	chr19:39338909..39344654-chr19:39419169..39426961,19	MCF-7	breast:
3	chr19:39424291..39427165-chr19:39431184..39433812,2	K562	blood:

No data

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

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10411209	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10411301	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423309	1.00[AMR][1000 genomes]
rs11083487	1.00[ASN][1000 genomes]
rs12977453	1.00[ASN][1000 genomes]
rs13343573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16972885	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17883664	1.00[ASN][1000 genomes]
rs2070250	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2070251	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2116853	1.00[AMR][1000 genomes]
rs2163811	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2304115	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2304116	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28808414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28824318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28844707	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28860185	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34264048	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45535036	1.00[ASN][1000 genomes]
rs59849895	1.00[ASN][1000 genomes]
rs61194027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61232096	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61347610	1.00[ASN][1000 genomes]
rs6508826	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6508827	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73537681	1.00[ASN][1000 genomes]
rs73930228	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73930229	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113749	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

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	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

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39422400-39426600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr19:39422400-39434600	Weak transcription	Fetal Kidney	kidney
3	chr19:39422400-39435000	Weak transcription	Fetal Lung	lung
4	chr19:39422400-39435000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:39422400-39440600	Weak transcription	NHDF-Ad	bronchial
6	chr19:39422600-39427000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:39422600-39430200	Weak transcription	HUVEC	blood vessel
8	chr19:39422600-39430800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:39422600-39435200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:39422600-39435200	Weak transcription	HSMM	muscle
11	chr19:39422600-39440200	Weak transcription	NH-A	brain
12	chr19:39422600-39440600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr19:39422600-39453000	Weak transcription	HSMMtube	muscle
14	chr19:39422800-39432600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:39423200-39440800	Weak transcription	Fetal Heart	heart
16	chr19:39423400-39436800	Weak transcription	Aorta	Aorta
17	chr19:39423600-39426200	Weak transcription	Hela-S3	cervix
18	chr19:39423600-39432400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:39423600-39433400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:39423600-39435000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:39423600-39440400	Weak transcription	Right Atrium	heart
22	chr19:39423600-39440600	Weak transcription	Gastric	stomach
23	chr19:39424000-39435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:39424200-39426400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:39424200-39435400	Weak transcription	NHLF	lung
26	chr19:39424400-39426600	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr19:39424400-39432000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:39424400-39435000	Weak transcription	Adipose Nuclei	Adipose
29	chr19:39424400-39436800	Weak transcription	Brain Angular Gyrus	brain
30	chr19:39424400-39440000	Weak transcription	Fetal Brain Female	brain
31	chr19:39424600-39427800	Weak transcription	Small Intestine	intestine
32	chr19:39424600-39434400	Weak transcription	Fetal Intestine Large	intestine
33	chr19:39424600-39434600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr19:39424600-39434600	Weak transcription	Colon Smooth Muscle	Colon
35	chr19:39424600-39436600	Weak transcription	Brain Anterior Caudate	brain
36	chr19:39424600-39440200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:39424600-39440200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:39424800-39426200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr19:39424800-39440200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr19:39424800-39440200	Weak transcription	Brain Substantia Nigra	brain
41	chr19:39425000-39426400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr19:39425000-39427400	Enhancers	Liver	Liver
43	chr19:39425200-39426400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:39425200-39426600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:39425200-39427000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:39425400-39426400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:39425400-39436800	Weak transcription	Lung	lung
48	chr19:39425400-39440400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:39425600-39426200	Weak transcription	HMEC	breast
50	chr19:39425600-39426400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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