Variant report

Variant	rs6592549
Chromosome Location	chr11:73920918-73920919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73688015..73690454-chr11:73918428..73920943,2	K562	blood:
2	chr11:73914665..73916425-chr11:73919450..73922392,2	K562	blood:

Variant related genes	Relation type
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10488770	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]
rs10488771	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10501413	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10501414	1.00[CEU][hapmap];1.00[JPT][hapmap];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]
rs17132567	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];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];0.92[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];0.92[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];0.92[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];0.92[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[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[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];0.92[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];0.88[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];0.92[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];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186561	1.00[AFR][1000 genomes];0.92[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];0.92[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];0.88[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];0.92[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];0.92[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];0.92[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];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57115412	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];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58421256	1.00[AFR][1000 genomes];0.92[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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60206858	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60218608	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60219367	0.97[AFR][1000 genomes];0.92[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];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644421	1.00[CEU][hapmap]
rs6592550	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[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];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107268	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110062	1.00[CEU][hapmap];1.00[JPT][hapmap];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];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7120494	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7126381	1.00[CEU][hapmap]
rs7126696	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];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129659	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129774	1.00[CEU][hapmap];1.00[JPT][hapmap];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];0.92[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];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565839	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565840	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73565842	0.97[AFR][1000 genomes];0.92[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];0.92[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];0.92[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];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943916	1.00[ASN][1000 genomes]
rs7947458	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]
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]
rs826079	1.00[CEU][hapmap]
rs826081	1.00[CEU][hapmap]
rs826082	1.00[CEU][hapmap]
rs826085	0.86[ASN][1000 genomes]
rs947840	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73883600-73921000	Weak transcription	Esophagus	oesophagus
2	chr11:73883600-73923200	Weak transcription	Aorta	Aorta
3	chr11:73883800-73923200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:73884200-73941200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:73884200-73941800	Weak transcription	Small Intestine	intestine
6	chr11:73885600-73925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:73885600-73957000	Weak transcription	Fetal Brain Male	brain
8	chr11:73885800-73942400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:73891400-73924000	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:73894000-73921600	Weak transcription	Pancreas	Pancrea
11	chr11:73897200-73937600	Weak transcription	Fetal Heart	heart
12	chr11:73897600-73923200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:73897600-73923400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:73901600-73938000	Weak transcription	Psoas Muscle	Psoas
15	chr11:73902200-73936200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr11:73902600-73941200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:73903000-73923400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:73903000-73923400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:73903800-73923200	Weak transcription	Gastric	stomach
20	chr11:73903800-73923600	Weak transcription	Right Ventricle	heart
21	chr11:73905200-73941800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:73907400-73941200	Weak transcription	NHDF-Ad	bronchial
23	chr11:73907400-73969200	Weak transcription	HUVEC	blood vessel
24	chr11:73908200-73921400	Weak transcription	NHEK	skin
25	chr11:73909400-73928200	Strong transcription	HSMM	muscle
26	chr11:73911000-73923000	Weak transcription	Fetal Intestine Small	intestine
27	chr11:73913200-73923200	Weak transcription	Brain Substantia Nigra	brain
28	chr11:73913200-73941200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:73913600-73946800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:73913800-73961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:73914000-73921200	Weak transcription	Colonic Mucosa	Colon
32	chr11:73914200-73921400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:73914200-73921800	Strong transcription	Dnd41	blood
34	chr11:73914800-73921800	Strong transcription	Primary B cells from cord blood	blood
35	chr11:73914800-73922000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:73914800-73922600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr11:73914800-73923000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:73914800-73927000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:73915000-73921600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:73915000-73922000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:73915000-73922000	Strong transcription	Adipose Nuclei	Adipose
42	chr11:73915000-73923200	Weak transcription	Spleen	Spleen
43	chr11:73915000-73924000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:73915000-73924200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:73915000-73926400	Strong transcription	HSMMtube	muscle
46	chr11:73915000-73927200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:73915200-73921400	Strong transcription	Fetal Thymus	thymus
48	chr11:73915200-73922000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:73915200-73922000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr11:73915200-73924600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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