Variant report

Variant	rs56306303
Chromosome Location	chr12:49081232-49081233
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49079263..49083026-chr12:49101907..49104961,3	K562	blood:
2	chr12:49079132..49081728-chr12:49082778..49085110,2	K562	blood:
3	chr12:49072887..49077758-chr12:49080125..49086735,20	MCF-7	breast:
4	chr12:49078444..49081393-chr12:49097132..49098901,2	MCF-7	breast:
5	chr12:49080142..49082217-chr12:49109244..49111484,3	K562	blood:
6	chr12:49080816..49082790-chr12:49089685..49091197,2	K562	blood:
7	chr12:49080316..49082217-chr12:49109829..49111484,2	K562	blood:
8	chr12:49081164..49084548-chr12:49085177..49089897,6	K562	blood:
9	chr12:49079263..49083026-chr12:49101684..49104961,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139620	Chromatin interaction
ENSG00000129315	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs3902956	1.00[AFR][1000 genomes]
rs55823822	0.84[AFR][1000 genomes]
rs56015238	1.00[AFR][1000 genomes]
rs56037864	0.85[AFR][1000 genomes]
rs56942518	1.00[AFR][1000 genomes]
rs58685133	1.00[AFR][1000 genomes]
rs59636982	0.81[AFR][1000 genomes]
rs61522435	1.00[AFR][1000 genomes]
rs74088109	1.00[AFR][1000 genomes]
rs74088111	1.00[AFR][1000 genomes]
rs74088113	1.00[AFR][1000 genomes]
rs74088132	1.00[AFR][1000 genomes]
rs74088154	1.00[AFR][1000 genomes]
rs74088160	1.00[AFR][1000 genomes]
rs74088162	1.00[AFR][1000 genomes]
rs74089307	0.85[AFR][1000 genomes]
rs74089309	1.00[AFR][1000 genomes]
rs74089329	1.00[AFR][1000 genomes]
rs74089330	1.00[AFR][1000 genomes]
rs74089332	1.00[AFR][1000 genomes]
rs74089333	1.00[AFR][1000 genomes]
rs74089334	1.00[AFR][1000 genomes]
rs74089339	1.00[AFR][1000 genomes]
rs74089356	1.00[AFR][1000 genomes]
rs74089365	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49076000-49087000	Weak transcription	Stomach Mucosa	stomach
2	chr12:49076400-49083200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:49076600-49081400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:49076600-49081600	Weak transcription	Osteobl	bone
5	chr12:49076600-49081800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:49076600-49081800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:49076600-49082200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:49076600-49082200	Weak transcription	Fetal Brain Male	brain
9	chr12:49076600-49082200	Weak transcription	Left Ventricle	heart
10	chr12:49076600-49082200	Weak transcription	NHDF-Ad	bronchial
11	chr12:49076600-49082400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:49076600-49082400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:49076600-49082400	Weak transcription	Fetal Lung	lung
14	chr12:49076600-49082600	Weak transcription	Brain Angular Gyrus	brain
15	chr12:49076600-49082600	Weak transcription	Brain Substantia Nigra	brain
16	chr12:49076600-49082800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:49076600-49083600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:49076600-49083800	Weak transcription	Lung	lung
19	chr12:49076600-49084200	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:49076600-49084200	Weak transcription	Psoas Muscle	Psoas
21	chr12:49076600-49084200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:49076600-49084200	Weak transcription	Small Intestine	intestine
23	chr12:49076600-49084200	Weak transcription	NHLF	lung
24	chr12:49076600-49084800	Weak transcription	Colonic Mucosa	Colon
25	chr12:49076600-49085600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:49076600-49086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:49076600-49086400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:49076600-49086400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:49076600-49086400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:49076600-49086600	Weak transcription	Fetal Kidney	kidney
31	chr12:49076600-49086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:49076600-49086800	Weak transcription	Aorta	Aorta
33	chr12:49076600-49086800	Weak transcription	Esophagus	oesophagus
34	chr12:49076600-49086800	Weak transcription	Gastric	stomach
35	chr12:49076600-49086800	Weak transcription	Ovary	ovary
36	chr12:49076600-49086800	Weak transcription	Pancreas	Pancrea
37	chr12:49076600-49086800	Weak transcription	Spleen	Spleen
38	chr12:49076600-49096400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:49076600-49109000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:49076800-49081400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:49076800-49081400	Weak transcription	Brain Anterior Caudate	brain
42	chr12:49076800-49081400	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:49076800-49081400	Weak transcription	HMEC	breast
44	chr12:49076800-49081600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:49076800-49081600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:49076800-49081600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:49076800-49081800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:49076800-49081800	Weak transcription	Fetal Stomach	stomach
49	chr12:49076800-49082000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:49076800-49082200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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