Variant report

Variant	rs1790144
Chromosome Location	chr11:75211901-75211902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75187485..75189633-chr11:75210513..75213163,2	MCF-7	breast:
2	chr11:75211217..75212883-chr11:75213293..75214975,2	K562	blood:
3	chr11:75035315..75036959-chr11:75209813..75212313,2	MCF-7	breast:
4	chr11:75210912..75212429-chr11:75217763..75219597,2	K562	blood:
5	chr11:75209740..75211543-chr11:75211641..75214647,3	MCF-7	breast:
6	chr11:75210731..75213962-chr11:75224563..75227666,3	MCF-7	breast:
7	chr11:75210912..75213100-chr11:75217815..75220736,3	K562	blood:
8	chr11:75174189..75176597-chr11:75211783..75214629,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254460	Chromatin interaction
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1540210	1.00[JPT][hapmap];0.92[LWK][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs1540211	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1783557	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783559	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790152	1.00[JPT][hapmap]
rs1793397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2853066	1.00[JPT][hapmap]
rs499613	0.81[YRI][hapmap]
rs504793	1.00[JPT][hapmap]
rs514477	1.00[JPT][hapmap]
rs549034	1.00[JPT][hapmap]
rs550881	1.00[JPT][hapmap]
rs581007	1.00[JPT][hapmap]
rs589724	1.00[JPT][hapmap]
rs667410	1.00[JPT][hapmap]
rs682292	1.00[JPT][hapmap]

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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1790144	ASXL1	trans	cerebellum	SCAN
rs1790144	P2RY2	cis	parietal	SCAN
rs1790144	MYO7A	cis	parietal	SCAN
rs1790144	UCP3	cis	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75200000-75219600	Weak transcription	Fetal Brain Female	brain
2	chr11:75203800-75217800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:75203800-75219200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:75204000-75216600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:75204200-75213400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:75206800-75214200	Enhancers	Placenta	Placenta
7	chr11:75207400-75216400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:75207600-75216400	Weak transcription	Left Ventricle	heart
9	chr11:75208200-75212200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:75208400-75212400	Enhancers	HSMMtube	muscle
11	chr11:75209000-75212200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:75209000-75213400	Enhancers	Adipose Nuclei	Adipose
13	chr11:75209200-75212800	Enhancers	HMEC	breast
14	chr11:75209200-75213000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:75209200-75213400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:75209400-75212400	Enhancers	Fetal Muscle Leg	muscle
17	chr11:75209400-75212600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:75209600-75212400	Enhancers	NHEK	skin
19	chr11:75209600-75212600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:75209600-75212800	Enhancers	Fetal Muscle Trunk	muscle
21	chr11:75209800-75212600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:75210000-75212200	Enhancers	Right Atrium	heart
23	chr11:75210200-75216400	Weak transcription	Psoas Muscle	Psoas
24	chr11:75210400-75219400	Weak transcription	Pancreas	Pancrea
25	chr11:75210600-75212000	Enhancers	Lung	lung
26	chr11:75210600-75212200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:75210600-75212800	Enhancers	Spleen	Spleen
28	chr11:75210800-75213600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:75211000-75212000	Weak transcription	Fetal Intestine Large	intestine
30	chr11:75211000-75212600	Weak transcription	HUVEC	blood vessel
31	chr11:75211200-75212000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:75211200-75212000	Enhancers	HSMM	muscle
33	chr11:75211200-75212600	Strong transcription	Fetal Intestine Small	intestine
34	chr11:75211200-75213800	Enhancers	HepG2	liver
35	chr11:75211200-75216400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:75211200-75219800	Weak transcription	Esophagus	oesophagus
37	chr11:75211400-75214800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:75211400-75214800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr11:75211400-75216600	Weak transcription	K562	blood
40	chr11:75211400-75216800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:75211400-75217800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:75211400-75218200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr11:75211600-75212000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:75211600-75212200	Enhancers	GM12878-XiMat	blood
45	chr11:75211600-75212400	Enhancers	Hela-S3	cervix
46	chr11:75211600-75212600	Enhancers	A549	lung
47	chr11:75211600-75213400	Weak transcription	NHLF	lung
48	chr11:75211800-75212200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr11:75211800-75216400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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