Variant report

Variant	rs61232096
Chromosome Location	chr19:39422873-39422874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:39419973-39422967	A549	lung:	n/a	chr19:39421022-39421040 chr19:39421023-39421039
2	BCL3	chr19:39422868-39423918	A549	lung:	n/a	n/a
3	POLR2A	chr19:39418846-39427915	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr19:39422843-39424605	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr19:39419835-39427960	PANC-1	pancreas:	n/a	n/a
6	BCL3	chr19:39420591-39423942	A549	lung:	n/a	chr19:39421086-39421099 chr19:39421078-39421091

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39420462..39423214-chr19:39898290..39900735,2	K562	blood:
2	chr19:39336974..39342883-chr19:39419267..39423173,13	K562	blood:
3	chr19:39338595..39344864-chr19:39418604..39422934,11	K562	blood:
4	chr19:39421083..39425618-chr19:39435632..39441753,7	MCF-7	breast:
5	chr19:39386472..39392494-chr19:39418718..39424791,9	K562	blood:
6	chr19:39389410..39392783-chr19:39420988..39423307,4	MCF-7	breast:
7	chr19:39338909..39344654-chr19:39419169..39426961,19	MCF-7	breast:
8	chr19:39326460..39328374-chr19:39422755..39424335,2	MCF-7	breast:
9	chr19:39228667..39230478-chr19:39420914..39423370,2	MCF-7	breast:
10	chr19:39422663..39425389-chr19:39427254..39430222,2	MCF-7	breast:

No data

Variant related genes	Relation type
SARS2	TF binding region
ENSG00000104824	Chromatin interaction
ENSG00000266559	Chromatin interaction
ENSG00000269547	Chromatin interaction
ENSG00000269190	Chromatin interaction
ENSG00000269486	Chromatin interaction
ENSG00000104825	Chromatin interaction
ENSG00000267892	Chromatin interaction
ENSG00000068903	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10411209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10411301	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423309	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13343573	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16972885	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2070250	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2070251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082436	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2116853	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304115	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304116	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362605	1.00[ASN][1000 genomes]
rs28808414	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28824318	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28844707	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28860185	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3181068	1.00[ASN][1000 genomes]
rs34264048	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58399999	1.00[ASN][1000 genomes]
rs61194027	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6508826	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6508827	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73537679	1.00[ASN][1000 genomes]
rs73930228	0.84[AMR][1000 genomes]
rs73930229	0.84[AMR][1000 genomes]
rs8113749	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39422200-39423000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:39422200-39423000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:39422200-39423000	Weak transcription	Ovary	ovary
4	chr19:39422200-39423000	Enhancers	Pancreas	Pancrea
5	chr19:39422200-39423000	Enhancers	Spleen	Spleen
6	chr19:39422200-39423200	Weak transcription	Aorta	Aorta
7	chr19:39422400-39423000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:39422400-39423000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:39422400-39423000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:39422400-39423000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:39422400-39423000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:39422400-39423000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr19:39422400-39423000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:39422400-39423000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:39422400-39423000	Enhancers	Colon Smooth Muscle	Colon
16	chr19:39422400-39423000	Weak transcription	Esophagus	oesophagus
17	chr19:39422400-39423000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr19:39422400-39423000	Enhancers	Fetal Muscle Trunk	muscle
19	chr19:39422400-39423000	Weak transcription	Fetal Stomach	stomach
20	chr19:39422400-39423000	Weak transcription	Gastric	stomach
21	chr19:39422400-39423000	Enhancers	Left Ventricle	heart
22	chr19:39422400-39423000	Weak transcription	Lung	lung
23	chr19:39422400-39423000	Weak transcription	Right Atrium	heart
24	chr19:39422400-39423000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:39422400-39423000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr19:39422400-39423000	Flanking Active TSS	NHEK	skin
27	chr19:39422400-39423200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:39422400-39423200	Weak transcription	Primary T cells from cord blood	blood
29	chr19:39422400-39423200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr19:39422400-39423200	Weak transcription	Brain Germinal Matrix	brain
31	chr19:39422400-39423200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:39422400-39423200	Weak transcription	Fetal Brain Male	brain
33	chr19:39422400-39423200	Enhancers	Fetal Heart	heart
34	chr19:39422400-39423600	Genic enhancers	Fetal Muscle Leg	muscle
35	chr19:39422400-39423800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr19:39422400-39424200	Weak transcription	Small Intestine	intestine
37	chr19:39422400-39424400	Strong transcription	Fetal Intestine Small	intestine
38	chr19:39422400-39426600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr19:39422400-39434600	Weak transcription	Fetal Kidney	kidney
40	chr19:39422400-39435000	Weak transcription	Fetal Lung	lung
41	chr19:39422400-39435000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr19:39422400-39440600	Weak transcription	NHDF-Ad	bronchial
43	chr19:39422600-39423000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr19:39422600-39423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:39422600-39423000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr19:39422600-39423000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:39422600-39423000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:39422600-39423000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr19:39422600-39423000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr19:39422600-39423000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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