Variant report

Variant	rs62121155
Chromosome Location	chr19:18215161-18215162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18215138..18216766-chr19:18223836..18225347,2	MCF-7	breast:
2	chr19:18207064..18208834-chr19:18213992..18216646,2	MCF-7	breast:
3	chr19:18213855..18215840-chr19:18226802..18229759,2	K562	blood:
4	chr19:18214304..18215890-chr19:18263415..18265130,2	K562	blood:
5	chr19:18214257..18217360-chr19:18228399..18230348,3	MCF-7	breast:
6	chr19:18201667..18204008-chr19:18212882..18215554,2	MCF-7	breast:
7	chr19:18185895..18188337-chr19:18214059..18216560,2	K562	blood:
8	chr19:18208517..18210174-chr19:18213137..18216099,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000096996	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000268173	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11086089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11665905	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667112	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11667917	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11670228	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11672366	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11673702	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs273496	0.84[EUR][1000 genomes]
rs273503	0.90[EUR][1000 genomes]
rs273504	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273505	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs273506	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs273508	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs273512	0.83[EUR][1000 genomes]
rs4808746	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56971820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58049250	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62121158	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62123561	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7249862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv911241	chr19:18193191-18304700	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS 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 target site	31 gene(s)	inside rSNPs	diseases
8	nsv911242	chr19:18201757-18304700	Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv911243	chr19:18206681-18283501	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv911244	chr19:18206681-18304700	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv911245	chr19:18206681-18338101	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv833774	chr19:18213761-18295329	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
14	esv3340166	chr19:18215101-18215332	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18210000-18215400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:18210600-18215200	Weak transcription	Lung	lung
3	chr19:18210800-18215200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr19:18211800-18215200	Weak transcription	Gastric	stomach
5	chr19:18212400-18215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:18212400-18215400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:18212600-18215200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:18213600-18216000	Enhancers	Fetal Brain Male	brain
9	chr19:18214200-18216000	Enhancers	Fetal Stomach	stomach
10	chr19:18214400-18216000	Enhancers	Spleen	Spleen
11	chr19:18214800-18215200	Flanking Active TSS	HepG2	liver
12	chr19:18214800-18215800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:18214800-18215800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr19:18215000-18215200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:18215000-18215200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:18215000-18215200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:18215000-18215200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr19:18215000-18215200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr19:18215000-18215200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:18215000-18215200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:18215000-18215200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr19:18215000-18215200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:18215000-18215200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:18215000-18215200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:18215000-18215200	Active TSS	Brain Angular Gyrus	brain
26	chr19:18215000-18215200	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr19:18215000-18215200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr19:18215000-18215200	Active TSS	Esophagus	oesophagus
29	chr19:18215000-18215200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr19:18215000-18215200	Active TSS	Fetal Brain Female	brain
31	chr19:18215000-18215200	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr19:18215000-18215200	Flanking Active TSS	Fetal Lung	lung
33	chr19:18215000-18215200	Active TSS	Left Ventricle	heart
34	chr19:18215000-18215200	Active TSS	Pancreas	Pancrea
35	chr19:18215000-18215200	Active TSS	Placenta Amnion	Placenta Amnion
36	chr19:18215000-18215200	Bivalent/Poised TSS	Psoas Muscle	Psoas
37	chr19:18215000-18215200	Active TSS	Right Ventricle	heart
38	chr19:18215000-18215200	Flanking Active TSS	Small Intestine	intestine
39	chr19:18215000-18215200	Flanking Active TSS	Thymus	Thymus
40	chr19:18215000-18215200	Flanking Active TSS	Hela-S3	cervix
41	chr19:18215000-18215200	Flanking Active TSS	HSMMtube	muscle
42	chr19:18215000-18215200	Flanking Active TSS	NHEK	skin
43	chr19:18215000-18215400	Active TSS	H1 Cell Line	embryonic stem cell
44	chr19:18215000-18215400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr19:18215000-18215400	Active TSS	Brain Germinal Matrix	brain
46	chr19:18215000-18215400	Active TSS	Brain Hippocampus Middle	brain
47	chr19:18215000-18215400	Flanking Active TSS	Dnd41	blood
48	chr19:18215000-18215400	Active TSS	HSMM	muscle
49	chr19:18215000-18215600	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr19:18215000-18215600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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