Variant report

Variant	rs7303057
Chromosome Location	chr12:49104935-49104936
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49079263..49083026-chr12:49101684..49104961,3	K562	blood:
2	chr12:49102550..49104993-chr12:49107788..49111188,3	K562	blood:
3	chr12:49079263..49083026-chr12:49101907..49104961,3	K562	blood:
4	chr12:49103301..49108658-chr12:49108679..49112078,7	K562	blood:
5	chr12:49098999..49101688-chr12:49103437..49107228,4	MCF-7	breast:
6	chr12:49072707..49077771-chr12:49103757..49111723,15	MCF-7	breast:
7	chr12:49103973..49105738-chr12:49108981..49111725,2	MCF-7	breast:
8	chr12:49054826..49056736-chr12:49104354..49106982,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000129315	Chromatin interaction
ENSG00000139620	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11168610	1.00[EUR][1000 genomes]
rs11168626	1.00[EUR][1000 genomes]
rs11503892	1.00[EUR][1000 genomes]
rs11534	1.00[EUR][1000 genomes]
rs11551273	1.00[EUR][1000 genomes]
rs11830117	1.00[EUR][1000 genomes]
rs11830164	1.00[EUR][1000 genomes]
rs11830884	1.00[EUR][1000 genomes]
rs11831374	1.00[EUR][1000 genomes]
rs11832320	1.00[EUR][1000 genomes]
rs11833394	1.00[EUR][1000 genomes]
rs11833669	1.00[EUR][1000 genomes]
rs11835422	1.00[EUR][1000 genomes]
rs11837122	1.00[EUR][1000 genomes]
rs11837337	1.00[EUR][1000 genomes]
rs11837993	1.00[EUR][1000 genomes]
rs11838121	1.00[EUR][1000 genomes]
rs11838289	1.00[EUR][1000 genomes]
rs11838360	1.00[EUR][1000 genomes]
rs12304826	1.00[EUR][1000 genomes]
rs12305150	1.00[EUR][1000 genomes]
rs12307016	1.00[EUR][1000 genomes]
rs17123267	1.00[EUR][1000 genomes]
rs17123398	1.00[EUR][1000 genomes]
rs34139009	1.00[EUR][1000 genomes]
rs36119652	1.00[EUR][1000 genomes]
rs55956587	1.00[EUR][1000 genomes]
rs56179964	1.00[EUR][1000 genomes]
rs57337154	1.00[EUR][1000 genomes]
rs57454425	1.00[EUR][1000 genomes]
rs57658152	1.00[EUR][1000 genomes]
rs59304927	1.00[EUR][1000 genomes]
rs59708884	1.00[EUR][1000 genomes]
rs60351852	1.00[EUR][1000 genomes]
rs71439468	1.00[EUR][1000 genomes]
rs7303289	1.00[AFR][1000 genomes]
rs7312311	1.00[EUR][1000 genomes]
rs7315319	1.00[EUR][1000 genomes]
rs74088131	1.00[EUR][1000 genomes]
rs74088137	1.00[EUR][1000 genomes]
rs74088163	1.00[EUR][1000 genomes]
rs74088167	1.00[EUR][1000 genomes]
rs74088185	1.00[EUR][1000 genomes]
rs74088186	1.00[EUR][1000 genomes]
rs74089357	1.00[EUR][1000 genomes]
rs74089364	1.00[EUR][1000 genomes]
rs7956989	1.00[EUR][1000 genomes]
rs7959705	1.00[EUR][1000 genomes]
rs7970421	1.00[EUR][1000 genomes]
rs7973146	1.00[EUR][1000 genomes]
rs7973248	1.00[EUR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49076600-49109000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:49081600-49107200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:49081600-49107600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:49081600-49108400	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:49082000-49107600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr12:49082200-49107200	Strong transcription	Liver	Liver
7	chr12:49082200-49107400	Strong transcription	Placenta	Placenta
8	chr12:49082200-49108000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:49082200-49108400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:49082200-49108600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:49082200-49108600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:49082200-49108800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:49082600-49107600	Strong transcription	Fetal Thymus	thymus
14	chr12:49088200-49107200	Weak transcription	Small Intestine	intestine
15	chr12:49088200-49107400	Weak transcription	Psoas Muscle	Psoas
16	chr12:49088200-49107600	Weak transcription	Stomach Mucosa	stomach
17	chr12:49089800-49109400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:49090000-49107200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:49090000-49107600	Weak transcription	Brain Angular Gyrus	brain
20	chr12:49090000-49107800	Weak transcription	Fetal Heart	heart
21	chr12:49090000-49108400	Weak transcription	Fetal Brain Male	brain
22	chr12:49091800-49107400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:49093400-49108000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr12:49095000-49108600	Strong transcription	Fetal Stomach	stomach
25	chr12:49095600-49107400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:49095600-49107800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:49095600-49108800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:49095800-49107200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:49095800-49107600	Strong transcription	A549	lung
30	chr12:49095800-49108400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:49096000-49107200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:49096000-49107400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:49097600-49108600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:49097600-49109400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:49097800-49108400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:49098200-49107600	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:49098200-49107800	Weak transcription	Fetal Kidney	kidney
38	chr12:49098200-49109600	Weak transcription	Aorta	Aorta
39	chr12:49098400-49107400	Weak transcription	Pancreas	Pancrea
40	chr12:49098600-49107400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:49098800-49105200	Weak transcription	HMEC	breast
42	chr12:49098800-49108600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:49099000-49105400	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:49099000-49105400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:49099000-49107200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:49099200-49106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:49099200-49107000	Weak transcription	NHLF	lung
48	chr12:49099200-49108600	Weak transcription	Gastric	stomach
49	chr12:49099200-49108800	Weak transcription	Brain Substantia Nigra	brain
50	chr12:49099400-49105800	Weak transcription	Ovary	ovary

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