Variant report

Variant	rs56185035
Chromosome Location	chr19:36138477-36138478
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36137918-36140030	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:36138471-36138501	K562	blood:	n/a	n/a
3	TCF12	chr19:36138310-36140193	A549	lung:	n/a	chr19:36139365-36139375 chr19:36139976-36139984

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36136475..36140054-chr19:36207952..36210367,3	MCF-7	breast:
2	chr19:36118346..36121729-chr19:36137061..36140850,4	MCF-7	breast:

Variant related genes	Relation type
COX6B1	TF binding region
ENSG00000126254	Chromatin interaction
ENSG00000272333	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2272538	0.83[ASN][1000 genomes]
rs2285412	0.84[ASN][1000 genomes]
rs2285418	0.94[ASN][1000 genomes]
rs57095084	0.84[ASN][1000 genomes]
rs59328743	0.94[ASN][1000 genomes]
rs7252115	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36136000-36138600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:36136000-36138600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:36136000-36138600	Weak transcription	Aorta	Aorta
4	chr19:36136000-36138600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:36136000-36138800	Weak transcription	HSMMtube	muscle
6	chr19:36136000-36139200	Weak transcription	Small Intestine	intestine
7	chr19:36136200-36138600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:36136200-36138600	Weak transcription	Stomach Mucosa	stomach
9	chr19:36136200-36138800	Weak transcription	Right Atrium	heart
10	chr19:36136400-36138600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:36136400-36138600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:36136400-36138600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:36136400-36138600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:36136400-36138600	Weak transcription	Primary B cells from cord blood	blood
15	chr19:36136400-36138600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:36136400-36138600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:36136400-36138600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:36136400-36138600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:36136400-36138600	Weak transcription	Brain Angular Gyrus	brain
20	chr19:36136400-36138600	Weak transcription	Brain Anterior Caudate	brain
21	chr19:36136400-36138600	Weak transcription	Brain Germinal Matrix	brain
22	chr19:36136400-36138600	Weak transcription	Brain Hippocampus Middle	brain
23	chr19:36136400-36138600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:36136400-36138600	Weak transcription	Brain Substantia Nigra	brain
25	chr19:36136400-36138600	Weak transcription	Colonic Mucosa	Colon
26	chr19:36136400-36138600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:36136400-36138600	Weak transcription	Fetal Brain Male	brain
28	chr19:36136400-36138600	Weak transcription	Fetal Intestine Large	intestine
29	chr19:36136400-36138600	Weak transcription	Fetal Kidney	kidney
30	chr19:36136400-36138600	Weak transcription	Psoas Muscle	Psoas
31	chr19:36136400-36138600	Weak transcription	Thymus	Thymus
32	chr19:36136400-36138600	Weak transcription	Hela-S3	cervix
33	chr19:36136400-36138800	Weak transcription	HUVEC	blood vessel
34	chr19:36136400-36139000	Weak transcription	Esophagus	oesophagus
35	chr19:36136400-36139200	Weak transcription	Fetal Heart	heart
36	chr19:36136400-36139200	Weak transcription	NHDF-Ad	bronchial
37	chr19:36136600-36138600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr19:36136600-36138600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:36136600-36138600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:36136600-36138600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:36136600-36138600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr19:36136600-36138600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:36136600-36138600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:36136600-36138600	Weak transcription	Liver	Liver
45	chr19:36136600-36138600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr19:36136600-36138600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:36136600-36138600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr19:36136600-36138600	Weak transcription	Fetal Intestine Small	intestine
49	chr19:36136600-36138600	Weak transcription	Fetal Stomach	stomach
50	chr19:36136600-36138600	Weak transcription	Left Ventricle	heart

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