Variant report

Variant	rs4799630
Chromosome Location	chr18:29674569-29674570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr18:29674539-29674697	K562	blood:	n/a	n/a
2	POLR2A	chr18:29671561-29677909	K562	blood:	n/a	n/a
3	CUX1	chr18:29674376-29674704	K562	blood:	n/a	n/a
4	MAFF	chr18:29674401-29674579	K562	blood:	n/a	n/a
5	IRF1	chr18:29674520-29674956	K562	blood:	n/a	n/a
6	TBL1XR1	chr18:29674122-29674776	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:29672647..29674860-chr18:29703384..29706167,2	MCF-7	breast:
2	chr18:29670755..29674701-chr18:29702072..29706406,4	K562	blood:
3	chr18:29521522..29523729-chr18:29672844..29674625,2	MCF-7	breast:
4	chr18:29671668..29674127-chr18:29674569..29677601,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265008	TF binding region
ENSG00000134758	Chromatin interaction
ENSG00000153339	Chromatin interaction
ENSG00000265008	Chromatin interaction
ENSG00000263393	Chromatin interaction
ENSG00000263823	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16962699	0.84[ASN][1000 genomes]
rs16962701	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4239374	0.82[ASN][1000 genomes]
rs4799327	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4799328	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55786778	0.86[ASN][1000 genomes]
rs56273402	0.82[ASN][1000 genomes]
rs56360277	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56810557	0.84[ASN][1000 genomes]
rs61271315	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67074695	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs68037424	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7229437	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7230167	0.86[ASN][1000 genomes]
rs7237971	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73415858	0.86[ASN][1000 genomes]
rs73415859	0.84[ASN][1000 genomes]
rs73415860	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757673	chr18:29632749-29674992	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2758719	chr18:29632749-29674992	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv909522	chr18:29645496-29674992	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv909523	chr18:29645496-29679922	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1055457	chr18:29654978-29677371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29671200-29675000	Active TSS	GM12878-XiMat	blood
2	chr18:29671400-29674800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr18:29671800-29674600	Active TSS	Muscle Satellite Cultured Cells	--
4	chr18:29672600-29676000	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr18:29673400-29674600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr18:29673400-29674600	Flanking Active TSS	Liver	Liver
7	chr18:29673400-29675000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
8	chr18:29673400-29692800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:29673400-29713800	Weak transcription	Spleen	Spleen
10	chr18:29673600-29674600	Transcr. at gene 5' and 3'	NHEK	skin
11	chr18:29673600-29675400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr18:29673600-29675400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr18:29673600-29678400	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr18:29673800-29674600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:29673800-29674800	Enhancers	Small Intestine	intestine
16	chr18:29673800-29675200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr18:29673800-29675200	Enhancers	Adipose Nuclei	Adipose
18	chr18:29673800-29675200	Enhancers	Brain Hippocampus Middle	brain
19	chr18:29673800-29675800	Weak transcription	Left Ventricle	heart
20	chr18:29673800-29675800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr18:29673800-29676400	Weak transcription	Aorta	Aorta
22	chr18:29673800-29676400	Enhancers	Brain Angular Gyrus	brain
23	chr18:29673800-29676600	Enhancers	Brain Cingulate Gyrus	brain
24	chr18:29673800-29676600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr18:29673800-29676600	Enhancers	Brain Substantia Nigra	brain
26	chr18:29673800-29676800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr18:29673800-29677000	Enhancers	Fetal Heart	heart
28	chr18:29673800-29678000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:29673800-29679400	Weak transcription	Gastric	stomach
30	chr18:29673800-29702000	Weak transcription	Pancreas	Pancrea
31	chr18:29673800-29714000	Weak transcription	Esophagus	oesophagus
32	chr18:29673800-29714200	Weak transcription	Ovary	ovary
33	chr18:29673800-29715200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr18:29673800-29715200	Weak transcription	Lung	lung
35	chr18:29673800-29715800	Weak transcription	Colonic Mucosa	Colon
36	chr18:29673800-29717000	Weak transcription	HSMMtube	muscle
37	chr18:29674000-29674600	Enhancers	Fetal Kidney	kidney
38	chr18:29674000-29674600	Flanking Active TSS	HUVEC	blood vessel
39	chr18:29674000-29674600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr18:29674000-29674800	Enhancers	Fetal Stomach	stomach
41	chr18:29674000-29675000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr18:29674000-29675200	Enhancers	Fetal Intestine Small	intestine
43	chr18:29674000-29675400	Enhancers	Stomach Mucosa	stomach
44	chr18:29674000-29676000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr18:29674000-29676000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr18:29674000-29676400	Genic enhancers	Primary B cells from peripheral blood	blood
47	chr18:29674000-29677400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr18:29674000-29679000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr18:29674000-29679600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr18:29674000-29689200	Weak transcription	Right Atrium	heart

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