Variant report

Variant	rs55910624
Chromosome Location	chr3:119543921-119543922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119538908..119542311-chr3:119543644..119546581,3	K562	blood:
2	chr3:119539097..119541500-chr3:119541978..119544255,2	MCF-7	breast:
3	chr3:119542022..119546217-chr3:119548294..119552137,4	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10511395	0.80[EUR][1000 genomes]
rs1054190	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1054191	0.80[EUR][1000 genomes]
rs11914561	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11915898	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11919783	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11923782	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11923854	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11927667	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11929668	0.80[EUR][1000 genomes]
rs1381841	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17204605	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17810302	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55644728	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55658250	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56114552	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6765004	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs68194015	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73175828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73175830	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73175844	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73175849	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73175853	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73175858	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175860	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175862	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175863	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73175864	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73175870	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73175873	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73175877	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73175879	0.88[AMR][1000 genomes]
rs73175880	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73175886	0.82[AMR][1000 genomes]
rs73175888	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73175891	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7645180	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119529400-119544000	Weak transcription	Right Atrium	heart
2	chr3:119529400-119566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:119529600-119582000	Weak transcription	Spleen	Spleen
4	chr3:119532400-119551000	Weak transcription	Right Ventricle	heart
5	chr3:119534000-119544800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:119534800-119558600	Weak transcription	Colonic Mucosa	Colon
7	chr3:119535000-119544200	Weak transcription	HepG2	liver
8	chr3:119536200-119569000	Weak transcription	Esophagus	oesophagus
9	chr3:119536400-119545600	Weak transcription	Left Ventricle	heart
10	chr3:119536400-119570200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:119536600-119576000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:119536600-119576400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:119537000-119544800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:119537000-119548200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:119537200-119544600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr3:119537200-119550600	Weak transcription	Fetal Heart	heart
17	chr3:119537800-119544600	Weak transcription	Fetal Intestine Small	intestine
18	chr3:119538200-119544800	Weak transcription	NHLF	lung
19	chr3:119538400-119545400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr3:119538600-119550800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:119539000-119550800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:119539000-119576400	Weak transcription	Ovary	ovary
23	chr3:119540400-119544000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:119540400-119544200	Weak transcription	Osteobl	bone
25	chr3:119540400-119544400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:119540400-119544600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:119540400-119545000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr3:119540400-119547600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:119540400-119563600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:119540400-119574800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:119540400-119576600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:119540600-119548000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:119540800-119546600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:119540800-119547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:119540800-119577000	Weak transcription	Aorta	Aorta
36	chr3:119541000-119544400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr3:119541000-119548200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr3:119541000-119581600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr3:119541200-119544000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:119541200-119544400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:119541200-119561800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:119541200-119587000	Weak transcription	Gastric	stomach
43	chr3:119541600-119544800	Weak transcription	A549	lung
44	chr3:119541600-119545000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr3:119541800-119546000	Weak transcription	Brain Anterior Caudate	brain
46	chr3:119541800-119559200	Weak transcription	Pancreas	Pancrea
47	chr3:119541800-119560000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr3:119542000-119544800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:119542200-119544800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr3:119542200-119548400	Weak transcription	Colon Smooth Muscle	Colon

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