Variant report

Variant	rs4552394
Chromosome Location	chr3:119546483-119546484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119538908..119542311-chr3:119543644..119546581,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1579030	0.85[AMR][1000 genomes]
rs17246730	0.85[AMR][1000 genomes]
rs58991487	0.85[AMR][1000 genomes]
rs72548703	0.85[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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119529400-119566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:119529600-119582000	Weak transcription	Spleen	Spleen
3	chr3:119532400-119551000	Weak transcription	Right Ventricle	heart
4	chr3:119534800-119558600	Weak transcription	Colonic Mucosa	Colon
5	chr3:119536200-119569000	Weak transcription	Esophagus	oesophagus
6	chr3:119536400-119570200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:119536600-119576000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:119536600-119576400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:119537000-119548200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:119537200-119550600	Weak transcription	Fetal Heart	heart
11	chr3:119538600-119550800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:119539000-119550800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:119539000-119576400	Weak transcription	Ovary	ovary
14	chr3:119540400-119547600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:119540400-119563600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr3:119540400-119574800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:119540400-119576600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:119540600-119548000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:119540800-119546600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:119540800-119547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:119540800-119577000	Weak transcription	Aorta	Aorta
22	chr3:119541000-119548200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:119541000-119581600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:119541200-119561800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr3:119541200-119587000	Weak transcription	Gastric	stomach
26	chr3:119541800-119559200	Weak transcription	Pancreas	Pancrea
27	chr3:119541800-119560000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:119542200-119548400	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:119542200-119550600	Weak transcription	NH-A	brain
30	chr3:119542400-119581200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:119542600-119548000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:119542600-119560800	Weak transcription	Hela-S3	cervix
33	chr3:119542600-119581600	Weak transcription	HUVEC	blood vessel
34	chr3:119542800-119575000	Weak transcription	Fetal Kidney	kidney
35	chr3:119543200-119548800	Weak transcription	Fetal Brain Male	brain
36	chr3:119543400-119548600	Strong transcription	Primary T cells from cord blood	blood
37	chr3:119543400-119549000	Weak transcription	Brain Substantia Nigra	brain
38	chr3:119543800-119548000	Weak transcription	Stomach Mucosa	stomach
39	chr3:119544000-119561800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:119544400-119546800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:119544600-119547600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr3:119545000-119546800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr3:119545000-119550800	Weak transcription	A549	lung
44	chr3:119545000-119551800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:119545000-119559600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:119545000-119576400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr3:119545200-119548200	Weak transcription	Brain Hippocampus Middle	brain
48	chr3:119545200-119550600	Weak transcription	HSMMtube	muscle
49	chr3:119545200-119552000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr3:119545200-119559200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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