Variant report

Variant	rs73189458
Chromosome Location	chr4:2892412-2892413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2892098..2895386-chr4:2900898..2904479,3	K562	blood:
2	chr4:2884994..2887786-chr4:2890994..2893239,2	K562	blood:
3	chr4:2888568..2890455-chr4:2892356..2894749,2	K562	blood:
4	chr4:2892123..2895002-chr4:2897727..2899403,2	K562	blood:

Variant related genes	Relation type
ENSG00000087274	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1012365	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1263338	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1263339	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1263342	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1263344	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1263349	0.80[EUR][1000 genomes]
rs12642795	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12650114	0.80[ASN][1000 genomes]
rs1419045	0.90[EUR][1000 genomes]
rs16843452	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16843523	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2051560	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2071695	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2097081	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2185885	0.89[EUR][1000 genomes]
rs2237004	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2239728	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2282772	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2282773	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2282774	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2285084	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2301374	0.84[EUR][1000 genomes]
rs3775068	0.80[ASN][1000 genomes]
rs3796469	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4690000	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4690001	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4690005	0.81[ASN][1000 genomes]
rs4690065	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4961	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4963	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4964	0.82[EUR][1000 genomes]
rs73082333	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7654786	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7664801	0.86[EUR][1000 genomes];0.87[ASN][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	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2870200-2914000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:2871200-2896000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:2871200-2900600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:2874200-2900000	Weak transcription	Hela-S3	cervix
5	chr4:2876600-2919200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr4:2877200-2919400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:2880600-2915000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:2881000-2895600	Weak transcription	Right Atrium	heart
9	chr4:2883600-2918600	Strong transcription	Fetal Stomach	stomach
10	chr4:2888200-2892600	Weak transcription	Brain Substantia Nigra	brain
11	chr4:2888200-2893000	Weak transcription	NHDF-Ad	bronchial
12	chr4:2888200-2899200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:2888400-2895800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:2888600-2892800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:2888600-2893200	Weak transcription	Fetal Brain Female	brain
16	chr4:2888600-2895200	Weak transcription	Colonic Mucosa	Colon
17	chr4:2888600-2895200	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:2888600-2895400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:2888600-2895400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:2888600-2895400	Weak transcription	HMEC	breast
21	chr4:2888600-2896200	Weak transcription	Ovary	ovary
22	chr4:2888600-2896200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr4:2888600-2896400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:2888600-2896400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:2888600-2896600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:2888600-2896600	Weak transcription	Small Intestine	intestine
27	chr4:2888600-2897200	Weak transcription	NHEK	skin
28	chr4:2888600-2899600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:2888600-2899800	Weak transcription	Fetal Brain Male	brain
30	chr4:2888800-2893000	Weak transcription	Brain Angular Gyrus	brain
31	chr4:2888800-2893000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:2888800-2893000	Weak transcription	NH-A	brain
33	chr4:2888800-2895400	Weak transcription	Fetal Kidney	kidney
34	chr4:2888800-2896400	Weak transcription	NHLF	lung
35	chr4:2888800-2899400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:2889000-2892600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:2889000-2892600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:2889000-2895400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:2889000-2895400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:2889000-2895600	Weak transcription	GM12878-XiMat	blood
41	chr4:2889000-2895600	Weak transcription	K562	blood
42	chr4:2889200-2893200	Weak transcription	Osteobl	bone
43	chr4:2889200-2895600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:2889200-2899400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:2889400-2895000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:2889400-2895800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr4:2889600-2892600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:2889600-2892800	Weak transcription	Brain Anterior Caudate	brain
49	chr4:2889600-2892800	Weak transcription	Gastric	stomach
50	chr4:2889600-2893000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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