Variant report

Variant	rs55666835
Chromosome Location	chr12:56820748-56820749
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10876883	1.00[EUR][1000 genomes]
rs11171812	1.00[EUR][1000 genomes]
rs11171823	1.00[EUR][1000 genomes]
rs11832580	0.88[AFR][1000 genomes]
rs11835538	1.00[EUR][1000 genomes]
rs12305578	1.00[EUR][1000 genomes]
rs12311878	1.00[EUR][1000 genomes]
rs55728562	1.00[EUR][1000 genomes]
rs61522113	1.00[EUR][1000 genomes]
rs61733875	0.86[AFR][1000 genomes]
rs6581093	0.84[AFR][1000 genomes]
rs73324365	1.00[EUR][1000 genomes]
rs7969172	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56799400-56831600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56803600-56822200	Weak transcription	Colonic Mucosa	Colon
3	chr12:56805000-56826000	Weak transcription	Right Ventricle	heart
4	chr12:56805800-56828200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:56806000-56821800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:56806000-56831200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:56806800-56822600	Weak transcription	HSMM	muscle
8	chr12:56806800-56828200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:56807000-56827800	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:56807200-56825800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:56807200-56828200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:56807200-56829000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:56807400-56828000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr12:56807400-56828000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:56807600-56828000	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr12:56807600-56828000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:56807600-56828000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:56807600-56828200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:56809200-56828000	Strong transcription	Fetal Thymus	thymus
20	chr12:56809200-56828600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:56809600-56828000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:56809800-56827400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:56809800-56827600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:56809800-56827800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:56809800-56827800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:56809800-56829000	Strong transcription	Dnd41	blood
27	chr12:56810000-56826000	Weak transcription	NHDF-Ad	bronchial
28	chr12:56810000-56828000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:56810000-56828800	Weak transcription	Small Intestine	intestine
30	chr12:56810000-56829400	Weak transcription	Brain Substantia Nigra	brain
31	chr12:56810200-56828000	Strong transcription	A549	lung
32	chr12:56810200-56829400	Weak transcription	HSMMtube	muscle
33	chr12:56810600-56825000	Strong transcription	Fetal Intestine Large	intestine
34	chr12:56810800-56826000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:56811200-56824600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:56811400-56828200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:56811800-56830400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:56811800-56842400	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:56813000-56825000	Strong transcription	K562	blood
40	chr12:56813000-56842600	Weak transcription	Fetal Heart	heart
41	chr12:56813200-56841200	Weak transcription	Fetal Kidney	kidney
42	chr12:56813600-56827200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:56813800-56842400	Weak transcription	Right Atrium	heart
44	chr12:56814000-56827800	Strong transcription	NHEK	skin
45	chr12:56814000-56828000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:56814200-56825000	Strong transcription	Primary B cells from cord blood	blood
47	chr12:56815800-56822000	Weak transcription	HUVEC	blood vessel
48	chr12:56816000-56821800	Weak transcription	Brain Angular Gyrus	brain
49	chr12:56816000-56825200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:56816000-56826000	Weak transcription	Brain Anterior Caudate	brain

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