Variant report

Variant	rs62122888
Chromosome Location	chr19:39801759-39801760
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39798143..39803164-chr19:39817466..39820362,4	K562	blood:
2	chr19:39799131..39802909-chr19:39818026..39820396,4	K562	blood:
3	chr19:39801479..39804972-chr19:39805498..39809517,5	K562	blood:
4	chr19:39798305..39800850-chr19:39800957..39803030,3	K562	blood:
5	chr19:39793347..39796509-chr19:39799969..39804115,5	K562	blood:
6	chr19:39797994..39800871-chr19:39800978..39802860,3	MCF-7	breast:
7	chr19:39801567..39803402-chr19:39831649..39833644,2	K562	blood:

Variant related genes	Relation type
ENSG00000179134	Chromatin interaction
ENSG00000128011	Chromatin interaction
ENSG00000130755	Chromatin interaction
ENSG00000269246	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs40469	0.88[EUR][1000 genomes]
rs45591338	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs45613331	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61736260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119675	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119688	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62122887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62122889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62122891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62122892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
4	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
6	nsv911681	chr19:39797716-39856246	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39788800-39802200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr19:39789600-39803000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:39790200-39802000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr19:39790400-39809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:39790600-39810000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr19:39798200-39809800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:39798600-39803200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:39798600-39810800	Weak transcription	Right Atrium	heart
9	chr19:39798800-39803600	Weak transcription	A549	lung
10	chr19:39798800-39807400	Strong transcription	Dnd41	blood
11	chr19:39798800-39810600	Weak transcription	Primary B cells from cord blood	blood
12	chr19:39799000-39804200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:39799000-39810400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:39799200-39801800	Weak transcription	Pancreas	Pancrea
15	chr19:39799200-39804200	Weak transcription	Gastric	stomach
16	chr19:39799200-39810200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:39799400-39803800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:39799400-39804400	Weak transcription	Lung	lung
19	chr19:39799600-39801800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr19:39799600-39803400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr19:39799600-39804600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:39799600-39805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:39799600-39806400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr19:39799600-39809200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:39799800-39802800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:39799800-39803000	Weak transcription	Adipose Nuclei	Adipose
27	chr19:39799800-39803600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr19:39799800-39805400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:39799800-39810000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr19:39800000-39803000	Weak transcription	Liver	Liver
31	chr19:39800000-39810200	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:39800200-39809200	Strong transcription	Primary T cells from cord blood	blood
33	chr19:39800400-39810200	Weak transcription	Fetal Lung	lung
34	chr19:39800600-39811000	Weak transcription	Small Intestine	intestine
35	chr19:39800800-39801800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr19:39800800-39802000	Flanking Active TSS	K562	blood
37	chr19:39801000-39801800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr19:39801000-39801800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr19:39801000-39801800	Active TSS	Brain Angular Gyrus	brain
40	chr19:39801000-39801800	Active TSS	Brain Anterior Caudate	brain
41	chr19:39801000-39801800	Active TSS	Brain Cingulate Gyrus	brain
42	chr19:39801000-39802000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:39801000-39802000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:39801000-39802200	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr19:39801000-39805000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:39801000-39806000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:39801000-39806800	Strong transcription	Fetal Stomach	stomach
48	chr19:39801000-39808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:39801000-39809200	Strong transcription	Thymus	Thymus
50	chr19:39801200-39801800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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