Variant report

Variant	rs557804
Chromosome Location	chr11:74492611-74492612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74466016..74468005-chr11:74492479..74494033,2	K562	blood:
2	chr11:74483422..74485043-chr11:74491640..74493577,2	K562	blood:
3	chr11:74482976..74485949-chr11:74491370..74492994,2	MCF-7	breast:
4	chr11:74486775..74489120-chr11:74491208..74495917,4	MCF-7	breast:
5	chr11:74491588..74493349-chr11:74499824..74502526,2	MCF-7	breast:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs100087	0.85[EUR][1000 genomes]
rs10899043	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236243	0.84[ASN][1000 genomes]
rs11236255	0.85[ASN][1000 genomes]
rs1125609	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs113187	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11827626	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12223829	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1282668	0.84[EUR][1000 genomes]
rs1282675	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1282677	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1315265	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1315299	0.82[ASN][1000 genomes]
rs1821352	0.84[ASN][1000 genomes]
rs1866562	0.84[ASN][1000 genomes]
rs2436762	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510692	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3132738	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3132908	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs474431	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs474445	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs474970	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs476040	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs483271	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs487207	0.84[ASN][1000 genomes]
rs487226	0.81[EUR][1000 genomes]
rs491826	0.81[ASN][1000 genomes]
rs493889	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs496698	0.81[EUR][1000 genomes]
rs498527	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs500827	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs503855	0.84[ASN][1000 genomes]
rs503994	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs504970	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs507247	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs507620	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs512782	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs513157	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs514534	0.81[EUR][1000 genomes]
rs515429	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs516287	0.85[ASN][1000 genomes]
rs517035	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs517666	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs517939	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524187	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs525802	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs527099	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs527661	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs529186	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs532952	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs533220	0.93[ASN][1000 genomes]
rs534595	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs535705	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs535794	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs536823	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs544852	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs544891	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs545202	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs545304	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs548106	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs550909	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs556908	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs556916	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs558303	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559211	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs563473	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs564229	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs571250	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs571437	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs575064	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs575886	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs576661	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs578477	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs579581	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs580042	0.96[ASN][1000 genomes]
rs580299	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs580541	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs592045	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs605954	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs633824	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs650130	0.84[ASN][1000 genomes]
rs655488	0.81[ASN][1000 genomes]
rs662062	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs673731	0.83[ASN][1000 genomes]
rs693212	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7121530	0.85[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	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
8	nsv897917	chr11:74474266-74595507	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic 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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74461600-74494000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:74467000-74494200	Weak transcription	Hela-S3	cervix
3	chr11:74467200-74493200	Weak transcription	Pancreas	Pancrea
4	chr11:74468000-74494000	Weak transcription	Dnd41	blood
5	chr11:74468000-74500800	Weak transcription	HepG2	liver
6	chr11:74470400-74494000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:74470600-74500800	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:74475400-74494600	Weak transcription	Esophagus	oesophagus
9	chr11:74476200-74493400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:74476200-74494400	Weak transcription	Fetal Stomach	stomach
11	chr11:74476600-74493200	Weak transcription	Right Atrium	heart
12	chr11:74478000-74501600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:74480200-74501400	Weak transcription	Fetal Intestine Small	intestine
14	chr11:74481200-74492800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:74481400-74494600	Weak transcription	Small Intestine	intestine
16	chr11:74481600-74493400	Weak transcription	HSMM	muscle
17	chr11:74481600-74493800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:74481800-74492800	Weak transcription	NHEK	skin
19	chr11:74481800-74493800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:74481800-74494000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:74482200-74493200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr11:74482400-74493200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:74483800-74497600	Weak transcription	Fetal Heart	heart
24	chr11:74484600-74492800	Weak transcription	HUVEC	blood vessel
25	chr11:74485200-74494000	Weak transcription	HMEC	breast
26	chr11:74485200-74502600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:74486400-74494000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:74486600-74497800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:74487200-74495400	Weak transcription	Fetal Kidney	kidney
30	chr11:74487600-74493400	Weak transcription	Thymus	Thymus
31	chr11:74488400-74494400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:74488400-74503800	Weak transcription	Stomach Mucosa	stomach
33	chr11:74488800-74500000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:74489000-74493200	Weak transcription	Primary T cells from cord blood	blood
35	chr11:74489000-74494000	Weak transcription	Spleen	Spleen
36	chr11:74489000-74495400	Weak transcription	Lung	lung
37	chr11:74489200-74493400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:74489400-74493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:74489400-74493800	Weak transcription	NHLF	lung
40	chr11:74489400-74494000	Weak transcription	A549	lung
41	chr11:74489800-74492800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:74489800-74494000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:74489800-74500800	Weak transcription	Left Ventricle	heart
44	chr11:74490200-74493000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:74490400-74493000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr11:74490600-74494000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:74490600-74495800	Weak transcription	Liver	Liver
48	chr11:74490800-74493600	Enhancers	Fetal Brain Male	brain
49	chr11:74490800-74494200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:74490800-74498000	Enhancers	Primary monocytes fromperipheralblood	blood

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