Variant report

Variant	rs11168690
Chromosome Location	chr12:49092479-49092480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49074472..49077646-chr12:49090893..49095740,4	MCF-7	breast:
2	chr12:49085516..49089992-chr12:49092342..49097404,5	K562	blood:
3	chr12:49085858..49087944-chr12:49092342..49095303,3	K562	blood:
4	chr12:49073473..49077014-chr12:49091691..49094539,3	K562	blood:

Variant related genes	Relation type
ENSG00000139620	Chromatin interaction
ENSG00000129315	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10875851	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168620	1.00[ASN][1000 genomes]
rs11168659	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168660	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168661	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168664	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168667	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168680	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168692	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168693	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168694	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168695	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168699	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168700	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168701	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168708	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168715	1.00[ASN][1000 genomes]
rs11168717	1.00[ASN][1000 genomes]
rs11168718	1.00[ASN][1000 genomes]
rs11168719	1.00[ASN][1000 genomes]
rs11168722	1.00[ASN][1000 genomes]
rs11168727	1.00[ASN][1000 genomes]
rs11168781	1.00[ASN][1000 genomes]
rs11832160	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837643	1.00[ASN][1000 genomes]
rs12366919	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369279	1.00[ASN][1000 genomes]
rs17123362	1.00[ASN][1000 genomes]
rs17834622	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895994	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409084	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3013	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132370	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405363	1.00[ASN][1000 genomes]
rs55644947	1.00[ASN][1000 genomes]
rs56182935	1.00[ASN][1000 genomes]
rs61942011	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61942012	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942013	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942014	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942015	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942016	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942018	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942047	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942048	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942049	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942051	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942052	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61942053	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61942058	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942059	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943193	1.00[ASN][1000 genomes]
rs61943194	1.00[ASN][1000 genomes]
rs6580694	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138342	1.00[ASN][1000 genomes]
rs7294389	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295027	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295138	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296987	1.00[ASN][1000 genomes]
rs7303113	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105786	1.00[ASN][1000 genomes]
rs74088163	1.00[ASN][1000 genomes]
rs7486636	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964801	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966343	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967175	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967542	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973954	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975102	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7977935	1.00[ASN][1000 genomes]
rs7979508	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953673	1.00[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	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49076600-49096400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:49076600-49109000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:49080800-49097400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:49081000-49097200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:49081000-49101000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:49081200-49093600	Strong transcription	NH-A	brain
7	chr12:49081400-49104000	Strong transcription	Hela-S3	cervix
8	chr12:49081600-49093600	Strong transcription	Osteobl	bone
9	chr12:49081600-49095000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:49081600-49097400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:49081600-49099800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:49081600-49103800	Strong transcription	Dnd41	blood
13	chr12:49081600-49107200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:49081600-49107600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:49081600-49108400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:49081800-49094400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:49081800-49099400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:49082000-49094800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:49082000-49104000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:49082000-49107600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:49082200-49094800	Strong transcription	NHDF-Ad	bronchial
22	chr12:49082200-49100800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:49082200-49107200	Strong transcription	Liver	Liver
24	chr12:49082200-49107400	Strong transcription	Placenta	Placenta
25	chr12:49082200-49108000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:49082200-49108400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr12:49082200-49108600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:49082200-49108600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:49082200-49108800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:49082400-49093800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr12:49082400-49094800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:49082400-49094800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:49082400-49100200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr12:49082600-49107600	Strong transcription	Fetal Thymus	thymus
35	chr12:49082800-49094600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:49082800-49095200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:49082800-49101800	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr12:49084200-49093400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:49085800-49093600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:49085800-49094400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:49086600-49093000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:49086800-49092800	Strong transcription	Fetal Intestine Small	intestine
43	chr12:49086800-49094600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:49088200-49097600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:49088200-49107200	Weak transcription	Small Intestine	intestine
46	chr12:49088200-49107400	Weak transcription	Psoas Muscle	Psoas
47	chr12:49088200-49107600	Weak transcription	Stomach Mucosa	stomach
48	chr12:49088400-49098000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:49089600-49095800	Weak transcription	Fetal Brain Female	brain
50	chr12:49089600-49096000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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