Variant report

Variant	rs73794824
Chromosome Location	chr4:2926062-2926063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2844628..2846821-chr4:2925950..2928753,2	MCF-7	breast:
2	chr4:2873606..2876373-chr4:2925507..2927684,2	MCF-7	breast:
3	chr4:2794541..2797530-chr4:2924553..2926506,2	K562	blood:
4	chr4:2909857..2911472-chr4:2925477..2927647,2	K562	blood:

Variant related genes	Relation type
ENSG00000087274	Chromatin interaction
ENSG00000087266	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16843459	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16843490	1.00[AMR][1000 genomes]
rs16843682	1.00[AMR][1000 genomes]
rs35304823	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35983864	1.00[AMR][1000 genomes]
rs55676948	1.00[AMR][1000 genomes]
rs56315133	1.00[AMR][1000 genomes]
rs57551202	1.00[AMR][1000 genomes]
rs57960709	1.00[AMR][1000 genomes]
rs58279895	1.00[AMR][1000 genomes]
rs60514033	1.00[AMR][1000 genomes]
rs60745500	1.00[AMR][1000 genomes]
rs61652297	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61747144	1.00[AMR][1000 genomes]
rs6830234	1.00[AMR][1000 genomes]
rs73792109	1.00[AMR][1000 genomes]
rs73792110	1.00[AMR][1000 genomes]
rs73792112	1.00[AMR][1000 genomes]
rs73792115	1.00[AMR][1000 genomes]
rs73792116	1.00[AMR][1000 genomes]
rs73794816	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794825	1.00[AMR][1000 genomes]
rs73794827	1.00[AMR][1000 genomes]
rs7657843	1.00[AMR][1000 genomes]
rs7676937	1.00[AMR][1000 genomes]
rs7699427	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2893200-2932600	Strong transcription	Fetal Thymus	thymus
2	chr4:2901200-2934600	Weak transcription	Hela-S3	cervix
3	chr4:2907400-2935400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:2910600-2927800	Weak transcription	Small Intestine	intestine
5	chr4:2911200-2935000	Weak transcription	Psoas Muscle	Psoas
6	chr4:2912600-2934800	Weak transcription	A549	lung
7	chr4:2913000-2935000	Weak transcription	K562	blood
8	chr4:2915600-2933000	Weak transcription	Right Atrium	heart
9	chr4:2916400-2929800	Weak transcription	Fetal Heart	heart
10	chr4:2917000-2932000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:2918800-2927800	Weak transcription	Fetal Brain Male	brain
12	chr4:2923400-2932000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr4:2923400-2932000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr4:2923800-2926200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:2923800-2933600	Strong transcription	Thymus	Thymus
16	chr4:2924000-2926200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:2924000-2926200	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr4:2924000-2926600	Genic enhancers	Brain Hippocampus Middle	brain
19	chr4:2924000-2927000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:2924000-2932000	Strong transcription	Fetal Muscle Leg	muscle
21	chr4:2924000-2934400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:2924200-2926200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:2924200-2926800	Genic enhancers	Brain Cingulate Gyrus	brain
24	chr4:2924200-2927000	Genic enhancers	H1 Cell Line	embryonic stem cell
25	chr4:2924200-2927000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:2924200-2927000	Genic enhancers	Spleen	Spleen
27	chr4:2924200-2927400	Genic enhancers	Fetal Intestine Small	intestine
28	chr4:2924200-2927800	Genic enhancers	Fetal Intestine Large	intestine
29	chr4:2924200-2928200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:2924200-2928800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:2924200-2932000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:2924200-2932400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:2924200-2932600	Strong transcription	Rectal Smooth Muscle	rectum
34	chr4:2924200-2932600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr4:2924200-2932800	Strong transcription	Adipose Nuclei	Adipose
36	chr4:2924200-2933000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr4:2924200-2934400	Strong transcription	Fetal Stomach	stomach
38	chr4:2924200-2934800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:2924400-2932400	Strong transcription	Ovary	ovary
40	chr4:2924400-2933800	Strong transcription	Fetal Brain Female	brain
41	chr4:2924400-2934200	Strong transcription	Brain Germinal Matrix	brain
42	chr4:2924600-2932000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr4:2924600-2932200	Strong transcription	Left Ventricle	heart
44	chr4:2924600-2932600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:2924800-2926800	Genic enhancers	Brain Anterior Caudate	brain
46	chr4:2924800-2927000	Genic enhancers	Pancreas	Pancrea
47	chr4:2924800-2930400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:2924800-2931400	Strong transcription	Colonic Mucosa	Colon
49	chr4:2924800-2931600	Strong transcription	HepG2	liver
50	chr4:2924800-2931800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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