Variant report

Variant	rs28594565
Chromosome Location	chr4:148885457-148885458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148884380..148886490-chr4:148890987..148892658,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10029241	1.00[EUR][1000 genomes]
rs10029666	1.00[EUR][1000 genomes]
rs10030416	1.00[AMR][1000 genomes]
rs17024101	1.00[EUR][1000 genomes]
rs17024109	1.00[EUR][1000 genomes]
rs28375864	1.00[EUR][1000 genomes]
rs28522552	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28529145	1.00[EUR][1000 genomes]
rs28592193	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28633738	1.00[EUR][1000 genomes]
rs28637907	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28687202	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716209	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36114707	1.00[EUR][1000 genomes]
rs57726071	1.00[EUR][1000 genomes]
rs59333422	1.00[EUR][1000 genomes]
rs59532898	1.00[EUR][1000 genomes]
rs60042934	1.00[EUR][1000 genomes]
rs61012783	1.00[EUR][1000 genomes]
rs61764246	1.00[EUR][1000 genomes]
rs6843781	1.00[AMR][1000 genomes]
rs6850705	1.00[AMR][1000 genomes]
rs72957750	1.00[EUR][1000 genomes]
rs73853989	1.00[EUR][1000 genomes]
rs7689751	1.00[AMR][1000 genomes]
rs7689903	1.00[AMR][1000 genomes]
rs9996205	1.00[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	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
2	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1024596	chr4:148830472-148886915	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148826600-148888200	Weak transcription	Fetal Thymus	thymus
2	chr4:148850200-148890800	Weak transcription	HUVEC	blood vessel
3	chr4:148856400-148889000	Weak transcription	Placenta	Placenta
4	chr4:148859400-148898000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:148861800-148890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:148862800-148887800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:148864200-148887200	Weak transcription	NHLF	lung
8	chr4:148864400-148896800	Weak transcription	Osteobl	bone
9	chr4:148864800-148891200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:148866400-148887400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:148866400-148889800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:148866400-148927400	Weak transcription	Thymus	Thymus
13	chr4:148867200-148891200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:148868200-148902600	Weak transcription	NH-A	brain
15	chr4:148877600-148889600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:148878000-148890600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:148878400-148890600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:148878400-148896400	Weak transcription	HMEC	breast
19	chr4:148878600-148896400	Weak transcription	NHEK	skin
20	chr4:148879400-148889200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:148879400-148890400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:148879400-148890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:148879600-148888800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:148879600-148891600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr4:148879800-148890800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:148879800-148891200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:148880000-148892400	Weak transcription	Psoas Muscle	Psoas
28	chr4:148880000-148892400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:148880200-148887600	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:148880200-148889800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:148880200-148896600	Weak transcription	Fetal Heart	heart
32	chr4:148881800-148889400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:148881800-148889600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:148882000-148888200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:148883000-148885800	Strong transcription	Aorta	Aorta
36	chr4:148883000-148886400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:148883400-148887200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:148883400-148887400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:148883400-148896400	Weak transcription	Gastric	stomach
40	chr4:148884200-148889200	Strong transcription	GM12878-XiMat	blood
41	chr4:148884400-148885800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:148884400-148885800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:148884400-148886000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:148884400-148886400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:148884400-148890400	Strong transcription	HSMM	muscle
46	chr4:148884600-148885800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:148884600-148889800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:148884800-148885600	Strong transcription	Fetal Intestine Small	intestine
49	chr4:148884800-148885600	Genic enhancers	Fetal Stomach	stomach
50	chr4:148884800-148885800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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