Variant report

Variant	rs524187
Chromosome Location	chr11:74467413-74467414
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74457724..74462703-chr11:74463031..74468958,12	K562	blood:
2	chr11:74466016..74468005-chr11:74492479..74494033,2	K562	blood:
3	chr11:74441741..74443246-chr11:74464573..74467415,2	K562	blood:

Variant related genes	Relation type
ENSG00000054938	Chromatin interaction
ENSG00000166439	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10899043	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236243	0.85[ASN][1000 genomes]
rs11236255	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1125609	0.84[ASN][1000 genomes]
rs113187	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11827626	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12223829	0.84[ASN][1000 genomes]
rs1282675	0.80[ASN][1000 genomes]
rs1282677	0.80[ASN][1000 genomes]
rs1315265	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1315299	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1821352	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1866562	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2436762	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2510692	0.80[ASN][1000 genomes]
rs3132738	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3132908	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474431	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs474445	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs474970	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs476040	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs483271	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs487207	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs491826	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs493889	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs498527	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs500827	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs503855	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs504970	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs507247	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs507620	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs512782	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs513157	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs515429	0.91[ASN][1000 genomes]
rs516287	0.86[ASN][1000 genomes]
rs517035	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs517666	0.82[ASN][1000 genomes]
rs517939	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs525802	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs527099	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs527661	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs529186	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs532952	0.93[ASN][1000 genomes]
rs533220	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs534595	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs535705	0.83[ASN][1000 genomes]
rs535794	0.92[ASN][1000 genomes]
rs536823	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs544852	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs544891	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs545202	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs545304	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs548106	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs550909	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs556908	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs556916	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs557804	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs558303	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs559211	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs563473	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs564229	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs571250	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs571437	0.83[ASN][1000 genomes]
rs575064	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs575886	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs576661	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs578477	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs579581	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs580042	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs580299	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs580541	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs592045	0.80[ASN][1000 genomes]
rs605954	0.81[ASN][1000 genomes]
rs650130	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs655488	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs662062	0.82[ASN][1000 genomes]
rs673731	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs693212	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7121530	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
7	esv1840811	chr11:74452658-74488369	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv897916	chr11:74465068-74574677	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74461200-74479400	Weak transcription	Spleen	Spleen
2	chr11:74461600-74467600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:74461600-74473600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:74461600-74474800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:74461600-74475000	Weak transcription	Fetal Intestine Small	intestine
6	chr11:74461600-74476400	Weak transcription	Thymus	Thymus
7	chr11:74461600-74494000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:74462000-74470200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:74462200-74474800	Weak transcription	Fetal Stomach	stomach
10	chr11:74462400-74479000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:74462400-74481200	Weak transcription	Primary T cells from cord blood	blood
12	chr11:74462600-74467600	Weak transcription	Dnd41	blood
13	chr11:74462600-74473800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:74462600-74487800	Weak transcription	K562	blood
15	chr11:74462800-74473800	Weak transcription	Primary B cells from cord blood	blood
16	chr11:74464600-74468000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:74464600-74468000	Enhancers	Adipose Nuclei	Adipose
18	chr11:74464600-74468000	Enhancers	HepG2	liver
19	chr11:74465200-74480600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:74465400-74467800	Enhancers	Brain Substantia Nigra	brain
21	chr11:74465800-74467800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:74465800-74467800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr11:74465800-74467800	Enhancers	HSMMtube	muscle
24	chr11:74465800-74468800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:74465800-74479000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:74466000-74467600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:74466000-74468000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:74466000-74468000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:74466000-74474800	Weak transcription	Left Ventricle	heart
30	chr11:74466000-74478800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr11:74466000-74478800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:74466000-74479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:74466200-74467800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:74466200-74473800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:74466400-74468000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:74466400-74468000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr11:74466400-74473800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:74466400-74474600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:74466600-74467800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr11:74466600-74467800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:74466600-74467800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr11:74466600-74468000	Enhancers	Psoas Muscle	Psoas
43	chr11:74466600-74473800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr11:74466800-74467600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:74466800-74467800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:74466800-74467800	Enhancers	NH-A	brain
47	chr11:74466800-74468000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:74466800-74468000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:74466800-74468000	Enhancers	NHDF-Ad	bronchial
50	chr11:74466800-74468000	Enhancers	NHLF	lung

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