Variant report

Variant	rs7947458
Chromosome Location	chr11:73926053-73926054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10488770	1.00[CEU][hapmap];1.00[JPT][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]
rs10488771	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10501413	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10501414	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1055178	0.86[ASN][1000 genomes]
rs11235979	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11235981	0.86[ASN][1000 genomes]
rs11235982	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11823967	1.00[CEU][hapmap]
rs12277116	0.86[ASN][1000 genomes]
rs12277407	0.86[ASN][1000 genomes]
rs12286033	1.00[CEU][hapmap]
rs12291090	1.00[ASN][1000 genomes]
rs12295243	0.86[ASN][1000 genomes]
rs12421228	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12794753	1.00[ASN][1000 genomes]
rs1685340	1.00[CEU][hapmap]
rs17132602	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132610	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132617	1.00[CEU][hapmap]
rs17132620	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132629	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132632	1.00[CEU][hapmap]
rs17132721	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132796	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132801	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132816	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132818	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132826	1.00[CEU][hapmap];1.00[JPT][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]
rs17132836	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132837	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132846	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132855	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132864	1.00[CEU][hapmap];1.00[JPT][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]
rs17132870	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17132881	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17132882	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132891	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132911	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132914	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132921	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132931	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132947	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132965	1.00[ASN][1000 genomes]
rs17132991	1.00[JPT][hapmap]
rs17133043	1.00[JPT][hapmap]
rs17160052	1.00[CEU][hapmap];1.00[JPT][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]
rs1726759	1.00[CEU][hapmap]
rs1790392	0.86[ASN][1000 genomes]
rs1790393	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2154971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272321	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs34895949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3897548	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4121666	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs41349744	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4489773	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575301	1.00[CEU][hapmap];1.00[JPT][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]
rs512641	1.00[JPT][hapmap]
rs520523	1.00[CEU][hapmap]
rs528900	1.00[CEU][hapmap]
rs531902	1.00[CEU][hapmap]
rs55793503	0.86[ASN][1000 genomes]
rs55814391	1.00[ASN][1000 genomes]
rs560814	1.00[CEU][hapmap]
rs56142225	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56171120	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56295430	0.86[ASN][1000 genomes]
rs56343229	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56808069	1.00[ASN][1000 genomes]
rs56984031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57115412	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57384187	1.00[ASN][1000 genomes]
rs57393325	1.00[ASN][1000 genomes]
rs57642592	1.00[ASN][1000 genomes]
rs58102808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58421256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58727177	0.86[ASN][1000 genomes]
rs58898896	1.00[ASN][1000 genomes]
rs600145	1.00[CEU][hapmap]
rs60044681	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60206858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60218608	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60219367	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60636561	0.86[ASN][1000 genomes]
rs60759798	0.86[ASN][1000 genomes]
rs60981452	0.98[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61132076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644421	1.00[CEU][hapmap]
rs6592549	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592550	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670974	1.00[CEU][hapmap]
rs7106817	1.00[CEU][hapmap];1.00[JPT][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]
rs7107268	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110062	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113898	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117866	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7120494	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7126381	1.00[CEU][hapmap]
rs7126696	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127358	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129659	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129774	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73549014	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73549059	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73549071	1.00[ASN][1000 genomes]
rs73550730	1.00[ASN][1000 genomes]
rs73550751	1.00[ASN][1000 genomes]
rs73550754	1.00[ASN][1000 genomes]
rs73550755	1.00[ASN][1000 genomes]
rs73550761	1.00[ASN][1000 genomes]
rs73550769	0.86[ASN][1000 genomes]
rs73550772	1.00[ASN][1000 genomes]
rs73555974	0.86[ASN][1000 genomes]
rs73555986	0.86[ASN][1000 genomes]
rs73557906	0.86[ASN][1000 genomes]
rs73561882	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73561885	1.00[ASN][1000 genomes]
rs73565826	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565828	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565829	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565839	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565840	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565842	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924965	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925320	1.00[CEU][hapmap];1.00[JPT][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]
rs7925695	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926891	1.00[CEU][hapmap];1.00[JPT][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]
rs7943916	1.00[ASN][1000 genomes]
rs826048	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs826059	0.86[ASN][1000 genomes]
rs826068	0.86[ASN][1000 genomes]
rs826069	0.86[ASN][1000 genomes]
rs826071	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs826072	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs826073	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs826075	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs826085	0.86[ASN][1000 genomes]
rs947840	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73884200-73941200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:73884200-73941800	Weak transcription	Small Intestine	intestine
3	chr11:73885600-73957000	Weak transcription	Fetal Brain Male	brain
4	chr11:73885800-73942400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:73897200-73937600	Weak transcription	Fetal Heart	heart
6	chr11:73901600-73938000	Weak transcription	Psoas Muscle	Psoas
7	chr11:73902200-73936200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr11:73902600-73941200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:73905200-73941800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:73907400-73941200	Weak transcription	NHDF-Ad	bronchial
11	chr11:73907400-73969200	Weak transcription	HUVEC	blood vessel
12	chr11:73909400-73928200	Strong transcription	HSMM	muscle
13	chr11:73913200-73941200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:73913600-73946800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:73913800-73961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:73914800-73927000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:73915000-73926400	Strong transcription	HSMMtube	muscle
18	chr11:73915000-73927200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:73915600-73941200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:73915600-73960600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:73916000-73957000	Weak transcription	NHLF	lung
22	chr11:73916800-73939800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:73918000-73942000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:73918200-73942400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:73918400-73936400	Weak transcription	Ovary	ovary
26	chr11:73920800-73941200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:73921600-73941200	Weak transcription	Osteobl	bone
28	chr11:73921800-73926400	Weak transcription	NH-A	brain
29	chr11:73921800-73941200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:73921800-73941200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:73921800-73942400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:73921800-73949800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr11:73921800-73950200	Weak transcription	Fetal Kidney	kidney
34	chr11:73921800-73957200	Weak transcription	Pancreas	Pancrea
35	chr11:73921800-73962000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:73922000-73941000	Weak transcription	HMEC	breast
37	chr11:73922000-73941800	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:73922200-73933200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:73922200-73941000	Weak transcription	HepG2	liver
40	chr11:73922200-73941200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:73922600-73941200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:73922800-73926200	Strong transcription	Liver	Liver
43	chr11:73922800-73926600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:73923200-73927400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:73923400-73927600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:73923400-73939600	Weak transcription	Primary B cells from cord blood	blood
47	chr11:73924000-73931400	Weak transcription	Hela-S3	cervix
48	chr11:73924200-73937400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:73924200-73941000	Weak transcription	Brain Anterior Caudate	brain
50	chr11:73924200-73941200	Weak transcription	Lung	lung

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