Variant report

Variant	rs10219550
Chromosome Location	chr12:46619981-46619982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46619242..46624120-chr12:46635510..46639158,5	K562	blood:
2	chr12:46618654..46626602-chr12:46659026..46664546,12	MCF-7	breast:
3	chr12:46618211..46621572-chr12:46623361..46625417,5	K562	blood:
4	chr12:46619817..46622496-chr12:46626390..46627893,2	K562	blood:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10160965	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10880936	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs10880937	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10880938	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs10880940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10880941	1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10880942	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs11183397	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs11183401	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs12307102	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs17096799	0.92[EUR][1000 genomes]
rs1822740	0.91[ASN][1000 genomes]
rs1822741	0.92[ASN][1000 genomes]
rs2125644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57668910	0.98[ASN][1000 genomes]
rs58776177	0.98[ASN][1000 genomes]
rs60679059	0.92[EUR][1000 genomes]
rs7953774	0.93[ASN][1000 genomes]
rs7965237	0.88[ASN][1000 genomes]
rs7971883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975060	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7980222	0.95[ASN][1000 genomes]
rs957128	0.92[EUR][1000 genomes]
rs963325	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
3	chr12:46604000-46623400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:46604000-46633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:46604000-46637400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:46610400-46624000	Weak transcription	Pancreas	Pancrea
7	chr12:46610600-46640000	Weak transcription	Esophagus	oesophagus
8	chr12:46613400-46621400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:46613800-46639800	Weak transcription	Lung	lung
10	chr12:46614000-46624200	Weak transcription	Fetal Brain Male	brain
11	chr12:46614400-46621600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:46614400-46627400	Weak transcription	Right Ventricle	heart
13	chr12:46615600-46632400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:46615600-46636600	Weak transcription	Brain Anterior Caudate	brain
15	chr12:46615800-46621600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:46615800-46623600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:46615800-46637800	Weak transcription	Dnd41	blood
18	chr12:46615800-46653800	Weak transcription	NH-A	brain
19	chr12:46616000-46640600	Strong transcription	Fetal Thymus	thymus
20	chr12:46616000-46650400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:46616200-46621400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:46616200-46621400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:46616200-46636600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:46616400-46620200	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr12:46616400-46620200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:46616400-46637200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:46616400-46637800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:46616400-46653600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:46616800-46627200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:46616800-46638600	Strong transcription	HMEC	breast
31	chr12:46616800-46639800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:46616800-46641600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:46617000-46636800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:46617000-46637800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:46617000-46653000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:46617200-46636200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:46617200-46639000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:46617200-46640200	Strong transcription	Hela-S3	cervix
39	chr12:46617400-46621600	Weak transcription	Fetal Brain Female	brain
40	chr12:46618200-46620400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr12:46618200-46620400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:46618200-46622400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:46618400-46621200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:46618400-46621400	Weak transcription	K562	blood
45	chr12:46618400-46621600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:46618400-46623000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:46618400-46632200	Weak transcription	Brain Germinal Matrix	brain
48	chr12:46618400-46639800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:46618400-46639800	Weak transcription	Spleen	Spleen
50	chr12:46618400-46641400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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