Variant report

Variant	rs8112290
Chromosome Location	chr19:18270491-18270492
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18270053-18271985	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18269587..18272195-chr19:18544788..18547771,3	K562	blood:
2	chr19:18220007..18223178-chr19:18266477..18270909,4	K562	blood:
3	chr19:18270372..18276469-chr19:18282239..18286487,12	K562	blood:
4	chr19:18268586..18275019-chr19:18302013..18308723,7	MCF-7	breast:
5	chr19:18172332..18174295-chr19:18269343..18271118,2	K562	blood:
6	chr19:18270258..18275351-chr19:18277257..18287386,21	K562	blood:
7	chr19:18269687..18274074-chr19:18275310..18278985,6	MCF-7	breast:

No data

Variant related genes	Relation type
PIK3R2	TF binding region
ENSG00000216490	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000105647	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10401175	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10406361	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10409167	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12978339	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12983325	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12984330	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1566029	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2009030	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2072490	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2267922	0.82[ASN][1000 genomes]
rs2270623	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2384858	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3736328	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808116	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71332122	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs740691	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8108738	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs917551	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv911246	chr19:18224729-18283501	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv911247	chr19:18224729-18288069	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv911248	chr19:18224729-18338101	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
17	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
18	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
19	nsv2429	chr19:18234179-18279381	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv911252	chr19:18234588-18338101	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
21	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
22	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
23	nsv911254	chr19:18248146-18310678	Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
24	nsv911255	chr19:18254876-18282586	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
25	nsv911256	chr19:18255359-18338101	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
26	nsv911257	chr19:18258598-18282586	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
27	nsv911258	chr19:18262371-18282586	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
28	nsv911259	chr19:18264940-18283501	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	21 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	chr19:18265000-18284200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:18265400-18271200	Weak transcription	Primary B cells from cord blood	blood
3	chr19:18265400-18271200	Weak transcription	Small Intestine	intestine
4	chr19:18265400-18271400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:18265400-18271600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr19:18265400-18276600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:18265600-18271200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr19:18265600-18271200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr19:18265600-18271200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:18265600-18271400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr19:18265600-18271800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:18265600-18272000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:18265600-18272400	Weak transcription	Fetal Kidney	kidney
14	chr19:18265600-18274000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr19:18266400-18271400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr19:18266800-18272000	Weak transcription	Aorta	Aorta
17	chr19:18267400-18271400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:18267400-18272600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:18267600-18271000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr19:18267600-18271600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr19:18267800-18271600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr19:18267800-18271800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:18268000-18271600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:18268000-18271600	Genic enhancers	Fetal Muscle Leg	muscle
25	chr19:18268200-18271200	Weak transcription	Gastric	stomach
26	chr19:18268200-18271400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:18268200-18272400	Enhancers	Placenta	Placenta
28	chr19:18268400-18270800	Weak transcription	HepG2	liver
29	chr19:18268400-18271200	Weak transcription	Adipose Nuclei	Adipose
30	chr19:18268400-18271200	Weak transcription	GM12878-XiMat	blood
31	chr19:18268400-18271400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr19:18268400-18271400	Weak transcription	Osteobl	bone
33	chr19:18268400-18271600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:18268400-18271600	Weak transcription	Ovary	ovary
35	chr19:18268400-18271800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:18268600-18270800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:18268600-18271000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr19:18268600-18271000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr19:18268600-18271000	Weak transcription	Spleen	Spleen
40	chr19:18268600-18271200	Weak transcription	Colon Smooth Muscle	Colon
41	chr19:18268600-18271200	Weak transcription	Lung	lung
42	chr19:18268600-18271200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr19:18268600-18271200	Weak transcription	NHLF	lung
44	chr19:18268600-18271400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:18268600-18271400	Weak transcription	Right Atrium	heart
46	chr19:18268600-18271400	Weak transcription	NHDF-Ad	bronchial
47	chr19:18268600-18271600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:18268600-18271600	Weak transcription	Liver	Liver
49	chr19:18268600-18271600	Enhancers	Brain Cingulate Gyrus	brain
50	chr19:18268600-18271600	Genic enhancers	Fetal Muscle Trunk	muscle

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