Variant report

Variant	rs61733848
Chromosome Location	chr12:50043687-50043688
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50041438..50043991-chr12:50098293..50102538,4	K562	blood:
2	chr12:50036454..50040797-chr12:50041682..50045793,5	MCF-7	breast:
3	chr12:50017144..50019706-chr12:50042001..50044864,2	K562	blood:
4	chr12:50042864..50045064-chr12:50072583..50074493,2	K562	blood:
5	chr12:50038693..50045227-chr12:50048053..50053823,9	K562	blood:
6	chr12:50042119..50045004-chr12:50144023..50146762,2	K562	blood:
7	chr12:50037543..50040518-chr12:50041058..50044921,6	K562	blood:
8	chr12:50031008..50035244-chr12:50040764..50043908,4	K562	blood:
9	chr12:50035440..50045362-chr12:50096806..50104789,13	K562	blood:
10	chr12:50032076..50035986-chr12:50043238..50048000,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000161791	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000257570	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11168999	1.00[ASN][1000 genomes]
rs11169023	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299908	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305457	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306194	1.00[ASN][1000 genomes]
rs12306785	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310836	1.00[ASN][1000 genomes]
rs12317050	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320273	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322425	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56014465	1.00[ASN][1000 genomes]
rs56140046	1.00[ASN][1000 genomes]
rs58095611	1.00[ASN][1000 genomes]
rs7132759	1.00[ASN][1000 genomes]
rs7299820	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314265	1.00[ASN][1000 genomes]
rs73305039	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305072	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305076	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305095	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73306897	0.86[EUR][1000 genomes]
rs74089562	1.00[ASN][1000 genomes]
rs7963130	1.00[ASN][1000 genomes]
rs7970334	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
4	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 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	chr12:50030800-50057000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:50031200-50045600	Weak transcription	Small Intestine	intestine
3	chr12:50031600-50052200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:50031800-50056200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:50033200-50052600	Strong transcription	Brain Germinal Matrix	brain
6	chr12:50033800-50048800	Strong transcription	Fetal Brain Female	brain
7	chr12:50034200-50045000	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr12:50034200-50045800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:50034200-50053000	Strong transcription	NHLF	lung
10	chr12:50034200-50056200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:50034600-50045200	Strong transcription	Osteobl	bone
12	chr12:50034800-50044400	Genic enhancers	Placenta	Placenta
13	chr12:50034800-50056400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:50034800-50056600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:50035400-50045200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:50035600-50049800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:50035600-50055000	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr12:50035600-50056400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:50035800-50048800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr12:50036000-50044600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:50036200-50045800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:50036600-50045000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:50036600-50050800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:50036800-50054600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:50038000-50051800	Weak transcription	Colonic Mucosa	Colon
26	chr12:50038200-50043800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:50038600-50044600	Genic enhancers	Lung	lung
28	chr12:50038800-50043800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:50038800-50043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:50038800-50044400	Strong transcription	Colon Smooth Muscle	Colon
31	chr12:50038800-50045800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:50038800-50055600	Weak transcription	K562	blood
33	chr12:50038800-50056200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:50039000-50055400	Strong transcription	Dnd41	blood
35	chr12:50039200-50043800	Weak transcription	Fetal Kidney	kidney
36	chr12:50039200-50044600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr12:50039200-50048200	Strong transcription	Ovary	ovary
38	chr12:50039200-50052800	Strong transcription	Thymus	Thymus
39	chr12:50039200-50053600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:50039400-50044200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:50039400-50048400	Weak transcription	Fetal Heart	heart
42	chr12:50039400-50054600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:50039600-50044000	Weak transcription	A549	lung
44	chr12:50039600-50044400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:50039600-50046800	Weak transcription	NHDF-Ad	bronchial
46	chr12:50039600-50049200	Weak transcription	Right Atrium	heart
47	chr12:50039800-50047200	Weak transcription	Liver	Liver
48	chr12:50040000-50046800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr12:50040000-50054400	Strong transcription	Primary B cells from cord blood	blood
50	chr12:50040200-50045000	Strong transcription	Monocytes-CD14+_RO01746	blood

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