Variant report

Variant	rs74088110
Chromosome Location	chr12:49072714-49072715
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: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	chr12:49072667..49077768-chr12:49107571..49112359,8	MCF-7	breast:
2	chr12:49072707..49077771-chr12:49103757..49111723,15	MCF-7	breast:
3	chr12:49071716..49073261-chr12:49207426..49209393,2	MCF-7	breast:
4	chr12:49059501..49061624-chr12:49071853..49074328,2	K562	blood:
5	chr12:49052583..49059422-chr12:49071692..49076510,9	K562	blood:
6	chr12:49052650..49057544-chr12:49071692..49076123,6	K562	blood:
7	chr12:49072639..49079132-chr12:49108469..49112073,12	K562	blood:
8	chr12:49071141..49073350-chr12:49108510..49110706,2	K562	blood:
9	chr12:49049997..49051694-chr12:49071950..49074374,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139620	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000206612	Chromatin interaction
ENSG00000207313	Chromatin interaction
ENSG00000129315	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11829853	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11830884	0.90[AFR][1000 genomes]
rs11833747	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11835040	1.00[AMR][1000 genomes]
rs11837122	0.83[AFR][1000 genomes]
rs11837277	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11837337	0.81[AFR][1000 genomes]
rs11837959	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11838009	0.83[AFR][1000 genomes]
rs11838360	0.90[AFR][1000 genomes]
rs2898086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898088	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2898089	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34046666	1.00[EUR][1000 genomes]
rs34080613	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35678179	1.00[AMR][1000 genomes]
rs36119652	0.81[AFR][1000 genomes]
rs3902957	1.00[AMR][1000 genomes]
rs56182935	0.85[EUR][1000 genomes]
rs56934678	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57337154	0.90[AFR][1000 genomes]
rs57454425	0.90[AFR][1000 genomes]
rs57658152	0.89[AFR][1000 genomes]
rs58539734	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59304927	0.81[AFR][1000 genomes]
rs59815296	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60351852	0.90[AFR][1000 genomes]
rs61496293	0.92[EUR][1000 genomes]
rs61751603	1.00[AMR][1000 genomes]
rs61942054	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7297499	0.90[AFR][1000 genomes]
rs7299151	0.92[EUR][1000 genomes]
rs7312311	0.90[AFR][1000 genomes]
rs7315319	0.89[AFR][1000 genomes]
rs74088105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74088137	0.90[AFR][1000 genomes]
rs74088149	0.83[AFR][1000 genomes]
rs74088163	0.83[AFR][1000 genomes]
rs74088167	0.83[AFR][1000 genomes]
rs74089369	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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	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
2	nsv519053	chr12:49065727-49079470	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49040400-49072800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:49041800-49073800	Strong transcription	Fetal Intestine Large	intestine
3	chr12:49042400-49072800	Strong transcription	Fetal Muscle Leg	muscle
4	chr12:49044200-49072800	Strong transcription	Fetal Thymus	thymus
5	chr12:49045600-49073400	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr12:49057800-49072800	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:49058400-49074000	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:49065800-49072800	Weak transcription	Esophagus	oesophagus
9	chr12:49065800-49074600	Weak transcription	Aorta	Aorta
10	chr12:49066400-49075000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:49066600-49072800	Weak transcription	Right Ventricle	heart
12	chr12:49066600-49073400	Weak transcription	Gastric	stomach
13	chr12:49067600-49073400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:49068200-49073400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:49068600-49072800	Weak transcription	Pancreas	Pancrea
16	chr12:49069200-49072800	Weak transcription	Lung	lung
17	chr12:49069400-49072800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:49069400-49074200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:49069800-49072800	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr12:49069800-49073800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:49070200-49072800	Strong transcription	Left Ventricle	heart
22	chr12:49070400-49072800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:49070400-49072800	Weak transcription	Fetal Stomach	stomach
24	chr12:49070400-49072800	Weak transcription	Right Atrium	heart
25	chr12:49070400-49073400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:49070400-49073400	Weak transcription	Fetal Intestine Small	intestine
27	chr12:49070400-49073600	Weak transcription	Spleen	Spleen
28	chr12:49070400-49075000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:49070600-49074600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
30	chr12:49070800-49074400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:49070800-49075000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr12:49071000-49072800	Genic enhancers	Brain Germinal Matrix	brain
33	chr12:49071000-49072800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:49071000-49073200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:49071000-49073200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
36	chr12:49071000-49073400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:49071000-49073400	Genic enhancers	NHDF-Ad	bronchial
38	chr12:49071000-49073800	Genic enhancers	Adipose Nuclei	Adipose
39	chr12:49071000-49074000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:49071000-49074000	Genic enhancers	Primary B cells from cord blood	blood
41	chr12:49071000-49074200	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:49071000-49074600	Genic enhancers	Colon Smooth Muscle	Colon
43	chr12:49071200-49073200	Genic enhancers	HSMM	muscle
44	chr12:49071200-49074000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:49071200-49074000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:49071200-49074400	Transcr. at gene 5' and 3'	Hela-S3	cervix
47	chr12:49071200-49074800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:49071400-49072800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:49071400-49072800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr12:49071400-49073400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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