Variant report

Variant	rs2293689
Chromosome Location	chr19:35775626-35775627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35775409..35778067-chr19:35786470..35789278,2	K562	blood:
2	chr19:35771828..35773656-chr19:35775065..35777175,3	K562	blood:
3	chr19:35775470..35777616-chr19:35783839..35785786,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HAMP-1	chr19:35773420-35776043	NONHSAT065819

Variant related genes	Relation type
ENSG00000105697	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11670645	0.84[ASN][1000 genomes]
rs2272539	0.90[ASN][1000 genomes]
rs495570	0.85[CHB][hapmap]
rs61744843	0.96[AFR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS 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 miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35762800-35780000	Weak transcription	Hela-S3	cervix
2	chr19:35767800-35775800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:35768400-35781400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:35768800-35781400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:35770000-35775800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:35770400-35776800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:35771800-35776200	Weak transcription	Fetal Kidney	kidney
8	chr19:35772000-35781200	Weak transcription	Brain Substantia Nigra	brain
9	chr19:35774000-35775800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:35774000-35775800	Weak transcription	K562	blood
11	chr19:35774800-35809600	Weak transcription	Right Atrium	heart
12	chr19:35775000-35776200	Enhancers	Ovary	ovary
13	chr19:35775200-35776000	Flanking Active TSS	HepG2	liver
14	chr19:35775200-35776200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:35775200-35776200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:35775400-35775800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:35775400-35776400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr19:35775400-35776600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr19:35775400-35777200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr19:35775400-35782600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr19:35775600-35775800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:35775600-35775800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
23	chr19:35775600-35776000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr19:35775600-35776000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:35775600-35776000	Flanking Active TSS	Liver	Liver
26	chr19:35775600-35776000	Enhancers	Brain Cingulate Gyrus	brain
27	chr19:35775600-35776000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr19:35775600-35776200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr19:35775600-35776200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr19:35775600-35776200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:35775600-35776200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:35775600-35776200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr19:35775600-35776200	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr19:35775600-35776200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr19:35775600-35776200	Enhancers	Pancreas	Pancrea
36	chr19:35775600-35776400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr19:35775600-35776400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr19:35775600-35776400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr19:35775600-35776400	Enhancers	Brain Angular Gyrus	brain
40	chr19:35775600-35776600	Enhancers	Fetal Lung	lung
41	chr19:35775600-35777200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links