Variant report

Variant	rs28989210
Chromosome Location	chr4:144278861-144278862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144264438..144268402-chr4:144278355..144282865,4	K562	blood:
2	chr4:144262793..144271335-chr4:144272377..144280163,14	K562	blood:
3	chr4:144278484..144280281-chr4:144303228..144305385,2	MCF-7	breast:
4	chr4:144256714..144259978-chr4:144276972..144280167,4	MCF-7	breast:
5	chr4:144272912..144279199-chr4:144279482..144284125,11	K562	blood:
6	chr4:144255843..144260329-chr4:144275960..144279644,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228981	Chromatin interaction
ENSG00000109458	Chromatin interaction
ENSG00000178972	Chromatin interaction
ENSG00000265623	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs62337484	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62337514	1.00[AFR][1000 genomes]
rs62337521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337523	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337524	1.00[AFR][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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1026110	chr4:144239825-144292148	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144272000-144279200	Enhancers	Brain Anterior Caudate	brain
2	chr4:144272000-144281400	Enhancers	Brain Substantia Nigra	brain
3	chr4:144272400-144279200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:144272800-144280200	Enhancers	Colon Smooth Muscle	Colon
5	chr4:144272800-144281200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:144272800-144284600	Enhancers	Fetal Intestine Small	intestine
7	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:144274600-144279400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:144275000-144279200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:144275200-144279800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:144275800-144283000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:144276000-144279000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:144276000-144279000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:144276000-144279000	Enhancers	Small Intestine	intestine
15	chr4:144276200-144279000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr4:144276200-144280800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:144276200-144283000	Enhancers	HMEC	breast
18	chr4:144276400-144279000	Enhancers	Liver	Liver
19	chr4:144276400-144279000	Enhancers	Placenta	Placenta
20	chr4:144276400-144279000	Enhancers	Gastric	stomach
21	chr4:144276400-144279000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr4:144276400-144280400	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:144276400-144281200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr4:144276400-144286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:144276600-144279000	Enhancers	Colonic Mucosa	Colon
26	chr4:144276800-144279600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:144276800-144280600	Weak transcription	Esophagus	oesophagus
28	chr4:144276800-144284800	Weak transcription	Lung	lung
29	chr4:144277000-144279600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr4:144277000-144279600	Weak transcription	HUVEC	blood vessel
31	chr4:144277000-144280000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:144277000-144280000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:144277000-144280000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:144277000-144280000	Enhancers	Rectal Smooth Muscle	rectum
35	chr4:144277000-144280000	Weak transcription	Right Atrium	heart
36	chr4:144277000-144280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:144277000-144280600	Weak transcription	Ovary	ovary
38	chr4:144277000-144282600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:144277000-144282800	Enhancers	Fetal Lung	lung
40	chr4:144277200-144279200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:144277200-144279600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:144277200-144279600	Weak transcription	NHDF-Ad	bronchial
43	chr4:144277200-144279800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr4:144277200-144280000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:144277200-144280000	Enhancers	Primary hematopoietic stem cells	blood
46	chr4:144277200-144280000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:144277200-144280000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:144277200-144280600	Weak transcription	Spleen	Spleen
49	chr4:144277200-144281800	Weak transcription	HSMM	muscle
50	chr4:144277200-144284000	Enhancers	Fetal Intestine Large	intestine

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