Variant report

Variant	rs5030676
Chromosome Location	chr4:110612183-110612184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:110612127-110612213	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:110350104..110351990-chr4:110609862..110612756,2	K562	blood:
2	chr4:110611889..110614128-chr4:110622707..110624451,2	MCF-7	breast:
3	chr4:110350104..110352430-chr4:110610795..110612756,2	K562	blood:

Variant related genes	Relation type
ENSG00000273447	TF binding region
ENSG00000138794	Chromatin interaction

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

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

rs_ID	r²[population]
rs11932581	1.00[AMR][1000 genomes]
rs28733095	1.00[AMR][1000 genomes]
rs5030591	1.00[AFR][1000 genomes]
rs5030605	0.81[AFR][1000 genomes]
rs58489427	1.00[AMR][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	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv595142	chr4:110609481-110656730	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110572600-110623200	Weak transcription	Esophagus	oesophagus
2	chr4:110589600-110623200	Weak transcription	Brain Substantia Nigra	brain
3	chr4:110598800-110622800	Weak transcription	NHEK	skin
4	chr4:110600200-110613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:110600800-110622600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:110601200-110615800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr4:110601600-110613400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:110601800-110622800	Weak transcription	Right Atrium	heart
9	chr4:110602600-110620000	Weak transcription	Small Intestine	intestine
10	chr4:110604200-110613400	Weak transcription	Osteobl	bone
11	chr4:110604200-110613800	Weak transcription	Right Ventricle	heart
12	chr4:110605000-110613200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:110605000-110622800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:110605200-110619800	Strong transcription	Dnd41	blood
15	chr4:110605400-110616000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr4:110605600-110612400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:110605600-110612400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:110605600-110616000	Strong transcription	Primary hematopoietic stem cells	blood
19	chr4:110605600-110619800	Strong transcription	Fetal Thymus	thymus
20	chr4:110605600-110622800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:110605800-110619400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:110605800-110622800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:110606000-110616000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:110606400-110613000	Weak transcription	Colonic Mucosa	Colon
25	chr4:110606400-110613200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:110606400-110622800	Weak transcription	Hela-S3	cervix
27	chr4:110607200-110622800	Weak transcription	Fetal Brain Male	brain
28	chr4:110607400-110618600	Strong transcription	Fetal Intestine Small	intestine
29	chr4:110607600-110619000	Strong transcription	Fetal Intestine Large	intestine
30	chr4:110607800-110623200	Weak transcription	Brain Angular Gyrus	brain
31	chr4:110608200-110617800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:110608400-110616000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:110608400-110618800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr4:110608600-110619400	Strong transcription	Liver	Liver
35	chr4:110608800-110612600	Weak transcription	Ovary	ovary
36	chr4:110608800-110613400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:110608800-110619200	Strong transcription	Adipose Nuclei	Adipose
38	chr4:110609000-110615800	Strong transcription	HUVEC	blood vessel
39	chr4:110609000-110616200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:110609000-110622800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:110609200-110615200	Weak transcription	Stomach Mucosa	stomach
42	chr4:110609200-110616000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:110609400-110613000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:110609600-110623000	Weak transcription	A549	lung
45	chr4:110609800-110619600	Weak transcription	HepG2	liver
46	chr4:110609800-110623200	Weak transcription	Psoas Muscle	Psoas
47	chr4:110610000-110619400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:110610200-110614400	Strong transcription	Left Ventricle	heart
49	chr4:110610200-110616200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:110610200-110617200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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