Variant report

Variant	rs4806279
Chromosome Location	chr19:36618332-36618333
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36617835..36619366-chr19:36705301..36707421,2	MCF-7	breast:
2	chr19:36583233..36586201-chr19:36617082..36618818,2	K562	blood:
3	chr19:36618311..36619273-chr19:36661263..36662378,12	K562	blood:
4	chr19:36618000..36620412-chr19:36704144..36708307,3	K562	blood:
5	chr19:36615077..36620423-chr19:36622100..36624907,6	K562	blood:
6	chr19:36617317..36620455-chr19:36659858..36661867,3	MCF-7	breast:
7	chr19:36618283..36619274-chr19:36661381..36662319,5	MCF-7	breast:
8	chr19:36610352..36613134-chr19:36616460..36619107,3	K562	blood:
9	chr19:36617223..36621168-chr19:36621174..36623571,4	MCF-7	breast:
10	chr19:36616979..36620071-chr19:36629993..36632800,4	K562	blood:
11	chr19:36617250..36625256-chr19:36625801..36633837,31	MCF-7	breast:
12	chr19:36612874..36616073-chr19:36617819..36620812,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196357	Chromatin interaction
ENSG00000126247	Chromatin interaction
ENSG00000105254	Chromatin interaction
ENSG00000167635	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10407011	0.87[ASN][1000 genomes]
rs10426582	0.80[AMR][1000 genomes]
rs12972660	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12977802	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12979093	0.80[AMR][1000 genomes]
rs2072606	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2075474	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2239510	0.87[ASN][1000 genomes]
rs3810445	0.81[EUR][1000 genomes]
rs4806253	0.80[AMR][1000 genomes]
rs4806280	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56034793	0.80[AMR][1000 genomes]
rs62109743	0.80[AMR][1000 genomes]
rs7250448	0.80[AMR][1000 genomes]
rs7257383	0.80[AMR][1000 genomes]
rs8100250	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 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	chr19:36607200-36618600	Weak transcription	Psoas Muscle	Psoas
2	chr19:36607400-36618400	Weak transcription	Stomach Mucosa	stomach
3	chr19:36607400-36618600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:36607400-36618800	Weak transcription	Small Intestine	intestine
5	chr19:36607600-36618400	Weak transcription	K562	blood
6	chr19:36608200-36618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:36613600-36618400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:36614000-36618400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:36614200-36618800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:36615200-36618400	Weak transcription	Primary B cells from cord blood	blood
11	chr19:36615200-36618400	Weak transcription	HUVEC	blood vessel
12	chr19:36615200-36618600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:36615400-36618600	Weak transcription	Fetal Brain Male	brain
14	chr19:36616600-36618600	Weak transcription	HSMMtube	muscle
15	chr19:36616600-36619000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:36616800-36618400	Weak transcription	Brain Substantia Nigra	brain
17	chr19:36616800-36618400	Weak transcription	Colonic Mucosa	Colon
18	chr19:36616800-36618400	Weak transcription	Fetal Kidney	kidney
19	chr19:36616800-36618400	Weak transcription	Hela-S3	cervix
20	chr19:36616800-36618600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:36616800-36618600	Weak transcription	NH-A	brain
22	chr19:36616800-36619000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:36617000-36618400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:36617000-36618400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr19:36617000-36618400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr19:36617000-36618400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:36617000-36618400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:36617000-36618400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr19:36617000-36618400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:36617000-36618400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:36617000-36618400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:36617000-36618400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:36617000-36618400	Weak transcription	Brain Angular Gyrus	brain
34	chr19:36617000-36618400	Weak transcription	Brain Anterior Caudate	brain
35	chr19:36617000-36618400	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:36617000-36618400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr19:36617000-36618400	Weak transcription	Colon Smooth Muscle	Colon
38	chr19:36617000-36618400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr19:36617000-36618400	Weak transcription	Esophagus	oesophagus
40	chr19:36617000-36618400	Weak transcription	Fetal Brain Female	brain
41	chr19:36617000-36618400	Weak transcription	Left Ventricle	heart
42	chr19:36617000-36618400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr19:36617000-36618400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:36617000-36618400	Weak transcription	Right Ventricle	heart
45	chr19:36617000-36618400	Weak transcription	HepG2	liver
46	chr19:36617000-36618400	Weak transcription	HSMM	muscle
47	chr19:36617000-36618400	Weak transcription	NHDF-Ad	bronchial
48	chr19:36617000-36618400	Weak transcription	NHEK	skin
49	chr19:36617000-36618400	Weak transcription	NHLF	lung
50	chr19:36617000-36618400	Weak transcription	Osteobl	bone

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