Variant report

Variant	rs28403215
Chromosome Location	chr4:3172439-3172440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs110501	0.86[EUR][1000 genomes]
rs16843836	0.82[ASN][1000 genomes]
rs17780797	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1891701	0.92[ASN][1000 genomes]
rs2071655	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071662	0.87[EUR][1000 genomes]
rs2237006	0.85[EUR][1000 genomes]
rs2269477	0.94[ASN][1000 genomes]
rs2285086	0.88[EUR][1000 genomes]
rs2298967	0.93[ASN][1000 genomes]
rs2298971	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28867436	0.91[EUR][1000 genomes]
rs362275	0.85[ASN][1000 genomes]
rs362319	0.87[EUR][1000 genomes]
rs362331	0.90[EUR][1000 genomes]
rs362336	0.87[ASN][1000 genomes]
rs363063	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs363064	0.94[ASN][1000 genomes]
rs363066	0.92[ASN][1000 genomes]
rs363088	0.90[ASN][1000 genomes]
rs363092	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs363096	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs363099	0.89[ASN][1000 genomes]
rs3755883	0.84[ASN][1000 genomes]
rs3856973	0.85[EUR][1000 genomes]
rs3905238	0.83[EUR][1000 genomes]
rs4690011	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4690072	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4690073	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4690075	0.98[ASN][1000 genomes]
rs55962025	0.83[ASN][1000 genomes]
rs59613878	0.95[ASN][1000 genomes]
rs60197694	0.93[ASN][1000 genomes]
rs61792530	0.93[ASN][1000 genomes]
rs6446722	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6446723	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66684864	0.93[ASN][1000 genomes]
rs6844859	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6855981	0.93[ASN][1000 genomes]
rs73193303	0.94[ASN][1000 genomes]
rs7685686	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7691627	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs82332	0.85[ASN][1000 genomes]
rs82333	0.86[EUR][1000 genomes]
rs82334	0.85[ASN][1000 genomes]
rs916171	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv461164	chr4:3149016-3215835	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv593439	chr4:3149016-3215835	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
2	chr4:3145800-3239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:3150000-3174400	Weak transcription	HMEC	breast
4	chr4:3156800-3174000	Weak transcription	A549	lung
5	chr4:3158600-3173600	Weak transcription	Fetal Kidney	kidney
6	chr4:3159400-3173600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:3162000-3173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:3162400-3173600	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:3162400-3174000	Weak transcription	Brain Substantia Nigra	brain
10	chr4:3162400-3174000	Weak transcription	Ovary	ovary
11	chr4:3162400-3174200	Weak transcription	NHLF	lung
12	chr4:3162400-3174600	Weak transcription	HUVEC	blood vessel
13	chr4:3162400-3175000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:3162600-3174000	Weak transcription	Colonic Mucosa	Colon
15	chr4:3162600-3174000	Weak transcription	Hela-S3	cervix
16	chr4:3162600-3174000	Weak transcription	HSMM	muscle
17	chr4:3162600-3182200	Weak transcription	Small Intestine	intestine
18	chr4:3162800-3174000	Weak transcription	Aorta	Aorta
19	chr4:3163000-3174000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:3163000-3182000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:3163400-3173600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:3163400-3174200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:3164200-3174400	Weak transcription	Fetal Brain Male	brain
24	chr4:3164400-3173000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:3164600-3173600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr4:3164600-3174800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:3164800-3172600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:3164800-3174000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:3164800-3174200	Weak transcription	Psoas Muscle	Psoas
30	chr4:3166200-3177400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:3167800-3203400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr4:3168000-3180800	Strong transcription	Fetal Stomach	stomach
33	chr4:3168000-3182600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:3168000-3191800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr4:3168000-3192600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:3168000-3197600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:3168000-3202800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr4:3168000-3203000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr4:3168400-3173600	Weak transcription	Brain Angular Gyrus	brain
40	chr4:3168600-3173600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:3168600-3173600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:3168600-3174000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr4:3168600-3174200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:3168800-3173600	Weak transcription	Adipose Nuclei	Adipose
45	chr4:3168800-3173600	Weak transcription	Brain Anterior Caudate	brain
46	chr4:3168800-3173600	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:3168800-3173600	Weak transcription	Placenta	Placenta
48	chr4:3168800-3173600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:3168800-3173800	Weak transcription	Fetal Lung	lung
50	chr4:3168800-3174000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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