Variant report

Variant	rs531103717
Chromosome Location	chr19:56906750-56906751
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	chr19:56896992..56902951-chr19:56903012..56907037,12	K562	blood:
2	chr19:56902006..56908060-chr19:56909612..56917978,15	K562	blood:

Variant related genes	Relation type
ENSG00000267781	Chromatin interaction
ENSG00000267192	Chromatin interaction
ENSG00000198440	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56900000-56906800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:56903600-56907000	ZNF genes & repeats	A549	lung
3	chr19:56905000-56913600	ZNF genes & repeats	Liver	Liver
4	chr19:56905200-56907000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:56905200-56907000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr19:56905400-56909000	Weak transcription	Spleen	Spleen
7	chr19:56905400-56909200	Weak transcription	Ovary	ovary
8	chr19:56905400-56909400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:56905400-56910800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:56905400-56911000	Weak transcription	Stomach Mucosa	stomach
11	chr19:56905600-56906800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:56905600-56908400	Weak transcription	Primary T cells from cord blood	blood
13	chr19:56905600-56908400	Weak transcription	HSMMtube	muscle
14	chr19:56905600-56908800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:56905600-56909200	Weak transcription	Aorta	Aorta
16	chr19:56905600-56909400	Weak transcription	Brain Germinal Matrix	brain
17	chr19:56905600-56909400	Weak transcription	Brain Substantia Nigra	brain
18	chr19:56905600-56909400	Weak transcription	Fetal Brain Female	brain
19	chr19:56905600-56910000	Weak transcription	Fetal Brain Male	brain
20	chr19:56905600-56910200	Weak transcription	Fetal Kidney	kidney
21	chr19:56905600-56914600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr19:56905800-56907400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:56905800-56908600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:56905800-56908800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:56905800-56908800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr19:56905800-56908800	Weak transcription	Brain Hippocampus Middle	brain
27	chr19:56905800-56909000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:56905800-56909000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr19:56905800-56909000	Weak transcription	Fetal Muscle Leg	muscle
30	chr19:56905800-56909000	Weak transcription	Fetal Stomach	stomach
31	chr19:56905800-56909000	Weak transcription	Left Ventricle	heart
32	chr19:56905800-56909200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:56905800-56909200	Weak transcription	Colon Smooth Muscle	Colon
34	chr19:56905800-56909200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr19:56905800-56909200	Weak transcription	Fetal Lung	lung
36	chr19:56905800-56910000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr19:56905800-56914400	Weak transcription	Fetal Heart	heart
38	chr19:56906000-56908800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:56906000-56908800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr19:56906000-56909400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:56906000-56909400	Weak transcription	Right Ventricle	heart
42	chr19:56906000-56910200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr19:56906000-56910200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:56906000-56910400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr19:56906200-56909000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr19:56906200-56909200	Weak transcription	Brain Anterior Caudate	brain
47	chr19:56906200-56909400	Weak transcription	Brain Angular Gyrus	brain
48	chr19:56906200-56909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:56906400-56907000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:56906400-56907200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links