Variant report

Variant	rs2075577
Chromosome Location	chr11:73715542-73715543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73715121..73717630-chr11:73768007..73770046,2	MCF-7	breast:
2	chr11:73714167..73717044-chr11:73777878..73780816,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1685355	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1685356	0.92[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1726744	0.87[JPT][hapmap]
rs1726745	0.89[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1726746	0.91[JPT][hapmap]
rs1726764	0.91[JPT][hapmap]
rs1790398	0.87[JPT][hapmap]
rs1790399	0.87[JPT][hapmap]
rs1790404	0.86[JPT][hapmap]
rs4944036	0.87[JPT][hapmap]
rs588097	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs590336	0.89[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs591758	0.86[CHB][hapmap]
rs599277	0.82[CHB][hapmap]
rs631551	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs635441	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs647126	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs653529	0.86[CHB][hapmap]
rs659366	0.86[CHB][hapmap]
rs660339	0.82[CHB][hapmap]
rs673494	0.80[CHB][hapmap]
rs680307	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs682602	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7926165	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs826033	0.87[JPT][hapmap]
rs826039	0.87[JPT][hapmap]
rs826056	0.86[JPT][hapmap]
rs826061	0.87[JPT][hapmap]
rs826062	0.87[JPT][hapmap]
rs9735789	0.80[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2075577	ZNF621	trans	parietal	SCAN
rs2075577	MRPL48	cis	cerebellum	SCAN
rs2075577	C2CD3	cis	parietal	SCAN
rs2075577	FGF4	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73703000-73719400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:73707400-73719800	Weak transcription	Dnd41	blood
3	chr11:73708000-73717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:73708800-73729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:73709000-73724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:73709400-73716600	Weak transcription	Small Intestine	intestine
7	chr11:73710000-73715800	Strong transcription	Fetal Muscle Leg	muscle
8	chr11:73710200-73728400	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:73710400-73715800	Weak transcription	Fetal Intestine Large	intestine
10	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
11	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
12	chr11:73710800-73717000	Enhancers	K562	blood
13	chr11:73710800-73717800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:73710800-73722400	Weak transcription	NHDF-Ad	bronchial
15	chr11:73711000-73718400	Strong transcription	Fetal Brain Female	brain
16	chr11:73711000-73721200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:73711000-73729200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:73711200-73716200	Weak transcription	GM12878-XiMat	blood
19	chr11:73711200-73718200	Strong transcription	Brain Germinal Matrix	brain
20	chr11:73711400-73717000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr11:73711400-73717400	Strong transcription	Right Ventricle	heart
22	chr11:73711600-73715600	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr11:73711600-73715800	Strong transcription	Thymus	Thymus
24	chr11:73711600-73716600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:73711800-73716000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr11:73711800-73716200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:73711800-73716600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:73711800-73717200	Strong transcription	Placenta	Placenta
29	chr11:73711800-73718200	Strong transcription	Lung	lung
30	chr11:73711800-73718200	Strong transcription	Spleen	Spleen
31	chr11:73711800-73720200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:73711800-73729200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:73712000-73716600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:73712000-73717200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:73712000-73721200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:73712200-73721200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:73712200-73726800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:73712200-73743600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:73712200-73743800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:73712400-73716000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr11:73712400-73721800	Weak transcription	Colonic Mucosa	Colon
42	chr11:73712600-73722400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:73712800-73743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:73713000-73715800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:73713000-73716600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
46	chr11:73713000-73716800	Strong transcription	Aorta	Aorta
47	chr11:73713200-73715600	Strong transcription	Primary B cells from cord blood	blood
48	chr11:73713200-73716000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:73713400-73716000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr11:73713400-73716200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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