Variant report

Variant	rs11883406
Chromosome Location	chr19:42831714-42831715
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42758717..42760946-chr19:42831370..42833314,2	MCF-7	breast:
2	chr19:42589152..42591857-chr19:42830713..42833464,2	K562	blood:
3	chr19:42788208..42790691-chr19:42829217..42832174,3	K562	blood:

Variant related genes	Relation type
ENSG00000079432	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000268643	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10401178	1.00[CEU][hapmap]
rs10404589	1.00[CEU][hapmap]
rs10405152	1.00[CEU][hapmap]
rs11878811	1.00[AMR][1000 genomes]
rs11878959	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11879456	1.00[EUR][1000 genomes]
rs11880554	1.00[CEU][hapmap]
rs11881583	1.00[CEU][hapmap]
rs11882103	1.00[CEU][hapmap]
rs11882606	1.00[AMR][1000 genomes]
rs11883099	1.00[AMR][1000 genomes]
rs11883425	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16975799	1.00[CEU][hapmap]
rs1975178	1.00[EUR][1000 genomes]
rs35260629	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36024215	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3810147	0.81[AFR][1000 genomes]
rs41363350	1.00[EUR][1000 genomes]
rs45439592	1.00[EUR][1000 genomes]
rs45459094	1.00[EUR][1000 genomes]
rs45542141	1.00[EUR][1000 genomes]
rs45551231	1.00[EUR][1000 genomes]
rs45618138	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61739430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509015	1.00[CEU][hapmap]
rs7246161	1.00[EUR][1000 genomes]
rs7247278	1.00[CEU][hapmap]
rs7258854	1.00[CEU][hapmap]
rs9676326	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription 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	70 gene(s)	inside rSNPs	diseases
6	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
7	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42830200-42831800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr19:42830200-42832000	Flanking Active TSS	Dnd41	blood
3	chr19:42830600-42831800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:42830600-42832000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:42830600-42840200	Weak transcription	Aorta	Aorta
6	chr19:42830800-42831800	Enhancers	Primary B cells from peripheral blood	blood
7	chr19:42830800-42831800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr19:42830800-42831800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:42830800-42831800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:42830800-42831800	Enhancers	Liver	Liver
11	chr19:42830800-42832000	Enhancers	Brain Hippocampus Middle	brain
12	chr19:42830800-42832000	Enhancers	Brain Substantia Nigra	brain
13	chr19:42830800-42832000	Enhancers	Gastric	stomach
14	chr19:42830800-42832200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr19:42830800-42832400	Weak transcription	Placenta	Placenta
16	chr19:42830800-42832400	Enhancers	Spleen	Spleen
17	chr19:42830800-42832600	Enhancers	Adipose Nuclei	Adipose
18	chr19:42830800-42832600	Enhancers	Fetal Muscle Trunk	muscle
19	chr19:42830800-42832800	Enhancers	Lung	lung
20	chr19:42830800-42833400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:42830800-42833400	Enhancers	Ovary	ovary
22	chr19:42830800-42833600	Enhancers	Pancreas	Pancrea
23	chr19:42830800-42840000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr19:42830800-42840200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:42830800-42840400	Weak transcription	Colonic Mucosa	Colon
26	chr19:42830800-42840400	Weak transcription	A549	lung
27	chr19:42830800-42840600	Weak transcription	Primary B cells from cord blood	blood
28	chr19:42830800-42841000	Weak transcription	HSMMtube	muscle
29	chr19:42830800-42851200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr19:42830800-42856400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:42830800-42867200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr19:42830800-42867600	Weak transcription	Fetal Kidney	kidney
33	chr19:42830800-42879200	Weak transcription	Small Intestine	intestine
34	chr19:42830800-42884200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr19:42831000-42831800	Enhancers	Duodenum Mucosa	Duodenum
36	chr19:42831000-42831800	Enhancers	Right Ventricle	heart
37	chr19:42831000-42831800	Enhancers	K562	blood
38	chr19:42831000-42832000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr19:42831000-42832600	Enhancers	Left Ventricle	heart
40	chr19:42831000-42832600	Enhancers	Rectal Smooth Muscle	rectum
41	chr19:42831000-42832800	Enhancers	Psoas Muscle	Psoas
42	chr19:42831000-42833400	Enhancers	Fetal Intestine Large	intestine
43	chr19:42831000-42839400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:42831000-42840000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr19:42831000-42840400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr19:42831000-42840400	Weak transcription	Osteobl	bone
47	chr19:42831000-42843600	Weak transcription	Right Atrium	heart
48	chr19:42831000-42856200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:42831000-42860600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr19:42831000-42874400	Weak transcription	HSMM	muscle

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