Variant report

Variant	rs34318926
Chromosome Location	chr19:56121332-56121333
allele	C/T
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	chr19:56119987..56121639-chr19:56154945..56156477,2	K562	blood:
2	chr19:56119781..56121487-chr19:56154204..56156477,2	K562	blood:
3	chr19:56119724..56122187-chr19:56130812..56133496,2	K562	blood:
4	chr19:56116994..56118715-chr19:56119312..56122594,3	MCF-7	breast:
5	chr19:56111368..56114320-chr19:56120080..56122567,3	MCF-7	breast:
6	chr19:56119724..56122803-chr19:56135661..56138277,3	K562	blood:
7	chr19:56119981..56122745-chr19:56123136..56127076,6	K562	blood:
8	chr11:65193263..65195565-chr19:56121088..56123035,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171425	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000179922	Chromatin interaction
ENSG00000171443	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12460543	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2280254	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2292810	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2292811	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34907477	0.83[ASN][1000 genomes]
rs35763366	0.81[EUR][1000 genomes]
rs3852898	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57314044	0.82[ASN][1000 genomes]
rs751729	0.88[ASN][1000 genomes]
rs8110652	0.83[ASN][1000 genomes]
rs908668	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56117600-56124800	Weak transcription	Small Intestine	intestine
2	chr19:56118000-56121400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
3	chr19:56118200-56125600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:56118200-56135000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:56118400-56121600	Strong transcription	Primary hematopoietic stem cells	blood
6	chr19:56118400-56121800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:56118400-56122000	Weak transcription	Psoas Muscle	Psoas
8	chr19:56118400-56122600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr19:56118400-56123000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:56118400-56123000	Weak transcription	NHLF	lung
11	chr19:56118400-56125200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:56118400-56125400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:56118400-56125600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:56118400-56125600	Weak transcription	Esophagus	oesophagus
15	chr19:56118400-56126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:56118400-56126000	Weak transcription	Brain Substantia Nigra	brain
17	chr19:56118400-56126800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:56118400-56127000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:56118400-56127400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr19:56118400-56128800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr19:56118400-56134400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:56118400-56135200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:56118400-56135200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:56118400-56135200	Weak transcription	HUVEC	blood vessel
25	chr19:56118600-56121600	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr19:56118600-56122200	Strong transcription	Primary B cells from cord blood	blood
27	chr19:56118600-56122200	Weak transcription	Brain Angular Gyrus	brain
28	chr19:56118600-56126000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr19:56118600-56127400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr19:56118600-56128800	Weak transcription	Stomach Mucosa	stomach
31	chr19:56118600-56129600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:56118600-56129800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:56118600-56131600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:56118600-56131800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:56118600-56134800	Strong transcription	Fetal Intestine Small	intestine
36	chr19:56118600-56134800	Weak transcription	K562	blood
37	chr19:56118600-56135200	Weak transcription	Fetal Brain Male	brain
38	chr19:56118800-56122000	Weak transcription	Pancreas	Pancrea
39	chr19:56118800-56122000	Weak transcription	Right Ventricle	heart
40	chr19:56118800-56122400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:56118800-56122800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:56118800-56127600	Weak transcription	HMEC	breast
43	chr19:56118800-56129400	Strong transcription	Thymus	Thymus
44	chr19:56118800-56131000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr19:56119400-56123000	Weak transcription	Brain Hippocampus Middle	brain
46	chr19:56119600-56121600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:56119600-56121800	Weak transcription	Fetal Heart	heart
48	chr19:56119600-56122000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:56119600-56122000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr19:56119600-56122200	Strong transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links