Variant report

Variant	rs549513
Chromosome Location	chr11:102282452-102282453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102278180..102279807-chr11:102281474..102283543,3	K562	blood:
2	chr11:102275664..102278453-chr11:102281044..102282865,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11225242	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11225243	1.00[ASN][1000 genomes]
rs11225244	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11225247	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12274405	1.00[JPT][hapmap]
rs12277747	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2436036	1.00[GIH][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes]
rs2567752	0.86[ASW][hapmap];0.85[CEU][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.80[TSI][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484068	1.00[CEU][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs485020	1.00[CEU][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs531350	0.85[CEU][hapmap];0.92[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs577850	0.83[CEU][hapmap];0.90[EUR][1000 genomes]
rs589068	0.99[EUR][1000 genomes]
rs660908	0.85[CEU][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs670334	0.85[CEU][hapmap];0.92[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs679366	1.00[ASN][1000 genomes]
rs7952037	1.00[JPT][hapmap]

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	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102220000-102283000	Weak transcription	Hela-S3	cervix
2	chr11:102265000-102287800	Weak transcription	Psoas Muscle	Psoas
3	chr11:102265000-102290800	Weak transcription	Small Intestine	intestine
4	chr11:102273000-102288000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:102273000-102302400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:102273200-102289800	Weak transcription	NHEK	skin
7	chr11:102273200-102292400	Weak transcription	HUVEC	blood vessel
8	chr11:102273200-102300800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:102274200-102282800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:102274400-102289600	Weak transcription	HMEC	breast
11	chr11:102274400-102294000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:102275000-102290600	Weak transcription	Fetal Intestine Large	intestine
13	chr11:102277200-102284200	Weak transcription	Aorta	Aorta
14	chr11:102277200-102284200	Weak transcription	Lung	lung
15	chr11:102277200-102284200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:102277200-102285600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr11:102277200-102297000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:102277400-102283200	Weak transcription	Adipose Nuclei	Adipose
19	chr11:102278000-102284200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:102278200-102289600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:102278600-102287200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:102278600-102300600	Weak transcription	Esophagus	oesophagus
23	chr11:102279400-102285200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:102279600-102282600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:102280200-102282800	Strong transcription	Liver	Liver
26	chr11:102280200-102284400	Strong transcription	Fetal Intestine Small	intestine
27	chr11:102280400-102282800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr11:102280600-102282800	Strong transcription	GM12878-XiMat	blood
29	chr11:102280800-102283200	Enhancers	NHDF-Ad	bronchial
30	chr11:102280800-102284000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr11:102280800-102285400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr11:102281000-102282800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:102281000-102282800	Genic enhancers	Fetal Thymus	thymus
34	chr11:102281000-102283200	Genic enhancers	Primary T cells fromperipheralblood	blood
35	chr11:102281000-102283200	Enhancers	Brain Germinal Matrix	brain
36	chr11:102281000-102283600	Enhancers	A549	lung
37	chr11:102281000-102284800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr11:102281400-102282600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:102281400-102283000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:102281400-102286000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:102281400-102287800	Weak transcription	Primary B cells from cord blood	blood
42	chr11:102281400-102293600	Weak transcription	Fetal Stomach	stomach
43	chr11:102281400-102296400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:102281400-102296600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:102281400-102297600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:102281600-102282600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:102281600-102282600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:102281600-102282600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr11:102281600-102282600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:102281600-102282600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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