Variant report

Variant	rs11830164
Chromosome Location	chr12:49044856-49044857
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49043504..49045672-chr12:49045695..49048721,3	MCF-7	breast:
2	chr12:49041453..49045537-chr12:49046563..49050434,5	MCF-7	breast:
3	chr12:49044206..49046725-chr12:49074611..49077605,2	K562	blood:

Variant related genes	Relation type
ENSG00000221491	Chromatin interaction
ENSG00000139620	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11168583	1.00[EUR][1000 genomes]
rs11168585	1.00[EUR][1000 genomes]
rs11168587	1.00[EUR][1000 genomes]
rs11168603	1.00[EUR][1000 genomes]
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]
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	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11834377	1.00[EUR][1000 genomes]
rs11835422	1.00[EUR][1000 genomes]
rs11837122	1.00[EUR][1000 genomes]
rs11837337	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11837993	1.00[EUR][1000 genomes]
rs11838121	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11838289	1.00[EUR][1000 genomes]
rs11838360	1.00[EUR][1000 genomes]
rs12300165	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]
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]
rs7303057	1.00[EUR][1000 genomes]
rs7312311	1.00[EUR][1000 genomes]
rs7315319	1.00[EUR][1000 genomes]
rs73296825	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]
rs7970421	1.00[EUR][1000 genomes]
rs7973146	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49027600-49046600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:49028200-49045000	Weak transcription	Colonic Mucosa	Colon
3	chr12:49030000-49047200	Weak transcription	Esophagus	oesophagus
4	chr12:49033800-49045200	Weak transcription	Spleen	Spleen
5	chr12:49034600-49045800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:49034800-49045200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:49034800-49045400	Weak transcription	NHDF-Ad	bronchial
8	chr12:49035000-49045600	Weak transcription	K562	blood
9	chr12:49035200-49046800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:49035400-49046200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:49035400-49047000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:49035400-49047000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:49035800-49046800	Weak transcription	Gastric	stomach
14	chr12:49035800-49046800	Weak transcription	Ovary	ovary
15	chr12:49036000-49045600	Weak transcription	Right Ventricle	heart
16	chr12:49036400-49045000	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:49036400-49045200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:49036400-49045400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:49036600-49045000	Weak transcription	Left Ventricle	heart
20	chr12:49036600-49045200	Weak transcription	Brain Substantia Nigra	brain
21	chr12:49036800-49045200	Weak transcription	GM12878-XiMat	blood
22	chr12:49036800-49045200	Weak transcription	NH-A	brain
23	chr12:49036800-49072000	Strong transcription	Liver	Liver
24	chr12:49037000-49045200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:49037000-49046600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:49037000-49046800	Weak transcription	NHLF	lung
27	chr12:49037200-49045600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:49037200-49045800	Weak transcription	Fetal Kidney	kidney
29	chr12:49037200-49046400	Weak transcription	HUVEC	blood vessel
30	chr12:49037400-49045600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:49037400-49045600	Weak transcription	Fetal Lung	lung
32	chr12:49037400-49046400	Weak transcription	Brain Germinal Matrix	brain
33	chr12:49037400-49046800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:49037400-49047400	Weak transcription	Fetal Brain Male	brain
35	chr12:49037800-49045000	Weak transcription	Fetal Brain Female	brain
36	chr12:49037800-49056600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:49037800-49072400	Strong transcription	Placenta	Placenta
38	chr12:49038200-49070800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:49038400-49045600	Weak transcription	HSMMtube	muscle
40	chr12:49038400-49060600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:49038600-49045200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:49038800-49071800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:49039000-49072200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:49039200-49046400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:49039200-49047600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:49039400-49068800	Weak transcription	Right Atrium	heart
47	chr12:49039400-49071800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:49039800-49071000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:49039800-49071000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr12:49040000-49057000	Strong transcription	Dnd41	blood

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