Variant report

Variant	rs2704054
Chromosome Location	chr18:29091901-29091902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29077877..29084482-chr18:29088955..29095937,13	K562	blood:
2	chr18:29078512..29082072-chr18:29089360..29094851,6	K562	blood:
3	chr18:29089902..29091907-chr18:29103774..29106283,2	MCF-7	breast:
4	chr18:29089738..29092422-chr18:29128090..29130094,2	MCF-7	breast:
5	chr18:29084753..29086828-chr18:29089364..29091948,2	K562	blood:
6	chr18:29082210..29085319-chr18:29089707..29093199,4	K562	blood:

Variant related genes	Relation type
ENSG00000046604	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10502571	1.00[ASN][1000 genomes]
rs56848605	1.00[ASN][1000 genomes]
rs57047618	1.00[ASN][1000 genomes]
rs57843942	1.00[ASN][1000 genomes]
rs59665004	1.00[ASN][1000 genomes]
rs59698374	1.00[ASN][1000 genomes]
rs73414289	1.00[ASN][1000 genomes]
rs73416205	1.00[ASN][1000 genomes]
rs8093731	1.00[ASN][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	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29080600-29093200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29080600-29100000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr18:29080600-29100400	Weak transcription	Fetal Thymus	thymus
4	chr18:29080800-29092400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr18:29081600-29092000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:29081600-29092200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr18:29081600-29092200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr18:29081600-29093200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr18:29081800-29092200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr18:29083400-29092600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:29084800-29093600	Weak transcription	Gastric	stomach
12	chr18:29087200-29096200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:29088000-29094200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:29088400-29093200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr18:29088600-29092000	Enhancers	GM12878-XiMat	blood
16	chr18:29088600-29093200	Enhancers	NHEK	skin
17	chr18:29088600-29093400	Enhancers	HMEC	breast
18	chr18:29088600-29094400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr18:29088600-29094400	Enhancers	HepG2	liver
20	chr18:29088600-29094600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:29088600-29095000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr18:29088800-29092800	Enhancers	A549	lung
23	chr18:29089600-29093000	Enhancers	Stomach Mucosa	stomach
24	chr18:29089600-29093400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:29089600-29094200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr18:29090000-29094600	Enhancers	Fetal Intestine Large	intestine
27	chr18:29090200-29092600	Weak transcription	Ovary	ovary
28	chr18:29090400-29092000	Enhancers	Fetal Heart	heart
29	chr18:29090400-29092400	Enhancers	Hela-S3	cervix
30	chr18:29090600-29092200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr18:29090600-29094800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:29090800-29094000	Enhancers	Placenta	Placenta
33	chr18:29090800-29094000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr18:29091000-29092200	Enhancers	Esophagus	oesophagus
35	chr18:29091000-29092800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:29091000-29092800	Enhancers	Colonic Mucosa	Colon
37	chr18:29091000-29093400	Enhancers	Duodenum Mucosa	Duodenum
38	chr18:29091000-29094800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr18:29091200-29092000	Genic enhancers	Fetal Intestine Small	intestine
40	chr18:29091200-29092200	Weak transcription	NH-A	brain
41	chr18:29091400-29092600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr18:29091400-29092600	Weak transcription	Pancreas	Pancrea
43	chr18:29091400-29092600	Weak transcription	K562	blood
44	chr18:29091400-29093800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr18:29091400-29094600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr18:29091400-29103800	Weak transcription	Left Ventricle	heart
47	chr18:29091600-29092000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr18:29091800-29092200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr18:29091800-29092400	Weak transcription	Right Atrium	heart
50	chr18:29091800-29094000	Enhancers	Right Ventricle	heart

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