Variant report

Variant	rs4768841
Chromosome Location	chr12:48098369-48098370
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48090015..48092688-chr12:48097959..48099858,2	MCF-7	breast:
2	chr12:48098316..48105030-chr12:48164986..48170762,10	K562	blood:
3	chr12:48094047..48097465-chr12:48098016..48100930,6	MCF-7	breast:
4	chr12:48097907..48100262-chr12:48151350..48154397,3	K562	blood:
5	chr12:48058375..48060319-chr12:48098023..48100043,2	K562	blood:
6	chr12:48097267..48105309-chr12:48111877..48120917,8	MCF-7	breast:
7	chr12:48098184..48101263-chr12:48165431..48167554,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000211584	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000257433	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10082722	0.88[EUR][1000 genomes]
rs10083203	0.88[EUR][1000 genomes]
rs1046438	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10875668	0.88[EUR][1000 genomes]
rs10875672	0.90[EUR][1000 genomes]
rs10875675	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875678	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168172	0.88[EUR][1000 genomes]
rs11168174	0.86[EUR][1000 genomes]
rs11168189	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168210	0.85[ASN][1000 genomes]
rs11503868	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11534912	0.89[EUR][1000 genomes]
rs11559971	0.85[ASN][1000 genomes]
rs12301106	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12318569	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233051	0.81[ASN][1000 genomes]
rs2022528	0.88[EUR][1000 genomes]
rs2057730	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2239187	0.89[ASN][1000 genomes]
rs2285831	0.82[ASN][1000 genomes]
rs2524319	0.81[ASN][1000 genomes]
rs3809318	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768161	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768840	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768842	0.82[ASN][1000 genomes]
rs56009115	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7294629	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7298493	0.88[EUR][1000 genomes]
rs73102109	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73104122	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73113128	0.88[EUR][1000 genomes]
rs7312135	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7314657	0.88[EUR][1000 genomes]
rs74088008	0.86[ASN][1000 genomes]
rs7960755	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929269	0.88[ASN][1000 genomes]
rs9668083	0.90[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	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:48046600-48099200	Weak transcription	Gastric	stomach
3	chr12:48046800-48098600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:48046800-48099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:48050200-48098600	Weak transcription	Pancreas	Pancrea
6	chr12:48056000-48099000	Weak transcription	Right Ventricle	heart
7	chr12:48057200-48098800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:48058000-48098600	Weak transcription	Colonic Mucosa	Colon
9	chr12:48062800-48098600	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:48063000-48099000	Weak transcription	Small Intestine	intestine
11	chr12:48064600-48099200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:48074200-48099000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:48075600-48098600	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:48076000-48098800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:48083600-48098600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:48083800-48098600	Weak transcription	Esophagus	oesophagus
17	chr12:48083800-48098800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:48083800-48099200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:48086400-48098800	Weak transcription	Fetal Brain Male	brain
20	chr12:48086600-48098800	Weak transcription	HSMMtube	muscle
21	chr12:48086800-48099000	Weak transcription	Lung	lung
22	chr12:48087000-48099000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:48087200-48098600	Weak transcription	Fetal Intestine Small	intestine
24	chr12:48087600-48098800	Weak transcription	NHLF	lung
25	chr12:48094600-48098400	Weak transcription	Fetal Stomach	stomach
26	chr12:48094600-48098600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:48094600-48098800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:48094800-48098400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:48094800-48098400	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:48094800-48098600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:48094800-48098600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:48094800-48098600	Weak transcription	Fetal Intestine Large	intestine
33	chr12:48094800-48098600	Weak transcription	Fetal Lung	lung
34	chr12:48094800-48098600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:48094800-48098600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:48094800-48098600	Weak transcription	NH-A	brain
37	chr12:48094800-48098600	Weak transcription	NHEK	skin
38	chr12:48094800-48098800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:48094800-48098800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:48094800-48098800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:48094800-48098800	Weak transcription	Brain Anterior Caudate	brain
42	chr12:48094800-48098800	Weak transcription	Brain Substantia Nigra	brain
43	chr12:48094800-48099000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:48094800-48099000	Weak transcription	Aorta	Aorta
45	chr12:48094800-48099000	Weak transcription	Ovary	ovary
46	chr12:48095000-48098400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:48095000-48098600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:48095000-48098600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:48095000-48098600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:48095000-48098600	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links