Variant report

Variant	rs60451375
Chromosome Location	chr19:56917470-56917471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56902006..56908060-chr19:56909612..56917978,15	K562	blood:
2	chr19:56902257..56906485-chr19:56913118..56917978,7	K562	blood:

Variant related genes	Relation type
ENSG00000266631	Chromatin interaction
ENSG00000018869	Chromatin interaction
ENSG00000267454	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56068433	1.00[AMR][1000 genomes]
rs57562849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937256	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv544096	chr19:56905651-56933455	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv3373403	chr19:56913940-56918638	Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3389334	chr19:56914840-56917838	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56914600-56917600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:56915800-56924200	ZNF genes & repeats	Fetal Brain Male	brain
3	chr19:56915800-56927000	ZNF genes & repeats	HSMM	muscle
4	chr19:56916000-56938600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:56916200-56917800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:56916200-56919000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:56916200-56920200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:56916400-56917600	ZNF genes & repeats	Thymus	Thymus
9	chr19:56916400-56918200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:56916400-56918400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:56916400-56918400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr19:56916400-56918400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:56916400-56918600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr19:56916400-56918600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:56916400-56920400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
16	chr19:56916400-56926200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:56916400-56927000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr19:56916400-56929800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr19:56916400-56936600	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr19:56916400-56956000	ZNF genes & repeats	Liver	Liver
21	chr19:56916600-56918200	Weak transcription	Colonic Mucosa	Colon
22	chr19:56916600-56918400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:56916600-56918400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:56916600-56918400	Weak transcription	Osteobl	bone
25	chr19:56916600-56920000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:56916600-56920200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:56916600-56935600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:56916600-56956000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr19:56916800-56917600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:56916800-56918000	Weak transcription	Fetal Intestine Large	intestine
31	chr19:56916800-56918200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:56916800-56918200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr19:56916800-56918200	Weak transcription	Brain Anterior Caudate	brain
34	chr19:56916800-56918200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr19:56916800-56918200	Weak transcription	Left Ventricle	heart
36	chr19:56916800-56918200	Weak transcription	Ovary	ovary
37	chr19:56916800-56918200	Weak transcription	HSMMtube	muscle
38	chr19:56916800-56918400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:56916800-56918400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:56916800-56918400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr19:56916800-56918400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:56916800-56918400	Weak transcription	NH-A	brain
43	chr19:56916800-56918600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:56916800-56918600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr19:56916800-56918600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:56916800-56918600	Weak transcription	Brain Substantia Nigra	brain
47	chr19:56916800-56918600	Weak transcription	NHEK	skin
48	chr19:56916800-56918800	Weak transcription	Fetal Thymus	thymus
49	chr19:56916800-56919600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr19:56916800-56920000	Weak transcription	Pancreas	Pancrea

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