Variant report

Variant	rs2946005
Chromosome Location	chr11:46001229-46001230
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45986502..45989270-chr11:45998897..46001765,2	K562	blood:
2	chr11:45919268..45921220-chr11:46000248..46001826,2	MCF-7	breast:
3	chr11:46000949..46006706-chr11:46011674..46018213,17	K562	blood:
4	chr11:45985178..45989270-chr11:45998832..46003040,4	K562	blood:
5	chr11:45994869..45996498-chr11:46000981..46003078,2	K562	blood:
6	chr11:45997750..46001916-chr11:46003160..46008009,7	K562	blood:
7	chr11:45998746..46001549-chr11:46002921..46008009,7	K562	blood:

Variant related genes	Relation type
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10128629	1.00[ASN][1000 genomes]
rs1024004	1.00[CHB][hapmap]
rs1038733	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10734539	1.00[ASN][1000 genomes]
rs10734540	1.00[ASN][1000 genomes]
rs10742773	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769177	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10838528	1.00[ASN][1000 genomes]
rs10838537	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10838558	1.00[CEU][hapmap]
rs10838563	1.00[ASN][1000 genomes]
rs10838564	1.00[CEU][hapmap]
rs11038827	1.00[ASN][1000 genomes]
rs11820849	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11820877	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827732	1.00[ASN][1000 genomes]
rs11828167	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292649	1.00[ASN][1000 genomes]
rs1401420	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1490082	1.00[ASN][1000 genomes]
rs1490087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1565412	1.00[CEU][hapmap]
rs16938429	1.00[CEU][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938437	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907003	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1973721	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1994599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2013010	1.00[CEU][hapmap]
rs2130469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2130470	1.00[ASN][1000 genomes]
rs2130471	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2130473	1.00[ASN][1000 genomes]
rs2171895	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2860376	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2860433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2863714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932510	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2932512	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2932515	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2932516	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2945996	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945998	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2946000	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2946002	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2946008	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2946009	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959082	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2959083	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2959085	1.00[CEU][hapmap]
rs2959088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2959089	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959095	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959097	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2959103	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959104	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs3107239	0.81[AFR][1000 genomes]
rs3929339	1.00[CEU][hapmap]
rs4237661	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs4281461	1.00[ASN][1000 genomes]
rs4756042	1.00[CEU][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756043	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4756048	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4756057	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs4756058	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs4756059	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs55945697	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61652532	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61882507	1.00[ASN][1000 genomes]
rs61882508	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882509	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882510	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882511	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882513	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882514	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882534	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882535	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882536	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882538	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882539	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882540	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882541	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882542	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882543	1.00[ASN][1000 genomes]
rs61882544	1.00[ASN][1000 genomes]
rs61882545	1.00[ASN][1000 genomes]
rs61882546	1.00[ASN][1000 genomes]
rs61882547	1.00[ASN][1000 genomes]
rs6485660	1.00[CEU][hapmap]
rs6485663	1.00[CEU][hapmap]
rs6485664	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7103299	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7106689	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7111900	1.00[ASN][1000 genomes]
rs7120227	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7125387	1.00[ASN][1000 genomes]
rs7129942	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7130282	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73452216	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7478883	1.00[ASN][1000 genomes]
rs7924996	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7932895	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934407	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7934572	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934681	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937896	1.00[CEU][hapmap]
rs7942083	1.00[CEU][hapmap]
rs7942246	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7943416	1.00[ASN][1000 genomes]
rs7946524	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs923531	1.00[CHB][hapmap]
rs939106	1.00[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];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	nsv523952	chr11:45983385-46028281	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45957200-46004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:45957200-46004400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:45967600-46004600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:45982200-46002200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:45983000-46002200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:45985000-46002200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:45985400-46002600	Strong transcription	Primary B cells from cord blood	blood
8	chr11:45985800-46003800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:45987000-46004000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:45987600-46004600	Weak transcription	Gastric	stomach
11	chr11:45988400-46004400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:45990400-46001600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:45991000-46004400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:45991000-46004400	Weak transcription	A549	lung
15	chr11:45991800-46003600	Weak transcription	Brain Germinal Matrix	brain
16	chr11:45992200-46004400	Weak transcription	HMEC	breast
17	chr11:45992600-46003600	Weak transcription	Fetal Brain Male	brain
18	chr11:45992800-46003600	Weak transcription	Brain Angular Gyrus	brain
19	chr11:45992800-46004200	Weak transcription	HSMM	muscle
20	chr11:45992800-46004600	Weak transcription	Fetal Kidney	kidney
21	chr11:45993000-46003600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:45993000-46004200	Weak transcription	NHLF	lung
23	chr11:45993000-46004400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:45993000-46004400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:45993000-46004400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:45993000-46004400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:45993000-46004600	Weak transcription	Esophagus	oesophagus
28	chr11:45993000-46004600	Weak transcription	Spleen	Spleen
29	chr11:45993000-46015000	Weak transcription	Psoas Muscle	Psoas
30	chr11:45993000-46017600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:45993200-46004200	Weak transcription	HUVEC	blood vessel
32	chr11:45993600-46004600	Weak transcription	Small Intestine	intestine
33	chr11:45995000-46001600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:45995000-46001600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:45995000-46002200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:45995200-46001400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr11:45995200-46002000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:45995400-46001600	Strong transcription	Placenta	Placenta
39	chr11:45995400-46002400	Weak transcription	K562	blood
40	chr11:45995400-46004000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr11:45996000-46002000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:45996000-46002000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:45996200-46001600	Strong transcription	Fetal Stomach	stomach
44	chr11:45996400-46001400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:45996400-46001600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:45996800-46004400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:45996800-46004400	Weak transcription	NHDF-Ad	bronchial
48	chr11:45997000-46002000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:45997200-46001600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:45997200-46002000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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