Variant report

Variant	rs3758730
Chromosome Location	chr11:34475099-34475100
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34459364..34461462-chr11:34473954..34476897,2	MCF-7	breast:
2	chr11:34470791..34472988-chr11:34473448..34475474,2	K562	blood:
3	chr11:34072099..34074725-chr11:34473129..34475989,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135387	Chromatin interaction
ENSG00000121691	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10768074	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10836212	0.82[ASN][1000 genomes]
rs10836213	0.82[ASN][1000 genomes]
rs10836214	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs10836219	0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs10836220	0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs10836221	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs10836226	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10836227	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10836228	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10836231	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10836232	0.95[CHB][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836233	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836235	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836250	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs11032677	0.89[ASN][1000 genomes]
rs11032685	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032686	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032687	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032688	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032689	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11032690	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032691	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032692	0.85[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032693	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11032694	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11032697	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032701	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032716	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032717	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11608027	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12221624	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs12276378	0.87[ASN][1000 genomes]
rs12277763	0.87[ASN][1000 genomes]
rs12285367	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12289239	0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs12292102	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12708346	0.82[ASN][1000 genomes]
rs12786782	0.87[ASN][1000 genomes]
rs12802066	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12803540	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1408034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408036	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1408037	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1408038	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1408039	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1408040	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16930094	0.87[CEU][hapmap]
rs17881488	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17884666	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17885743	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980719	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs2073059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2223676	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2274044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2284364	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2420387	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34682777	0.87[ASN][1000 genomes]
rs60077297	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61447308	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6484720	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6484721	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7106007	0.87[CEU][hapmap]
rs7111687	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7111765	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7111903	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7115206	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7117384	0.91[ASN][1000 genomes]
rs7117540	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7118388	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs7127109	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7127314	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7127560	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7131159	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7131473	0.91[ASN][1000 genomes]
rs7928156	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7928368	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs7928635	0.82[ASN][1000 genomes]
rs7929333	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7929460	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7929574	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7929899	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7929931	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7929952	0.85[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7930070	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7944397	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs7947841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34461400-34482800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:34461800-34485800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:34462000-34477600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:34466000-34479000	Weak transcription	Small Intestine	intestine
5	chr11:34468000-34481000	Weak transcription	Stomach Mucosa	stomach
6	chr11:34469800-34479000	Strong transcription	HepG2	liver
7	chr11:34469800-34487400	Strong transcription	Hela-S3	cervix
8	chr11:34470200-34486600	Genic enhancers	Liver	Liver
9	chr11:34470400-34475800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:34470400-34482800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:34470400-34487400	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:34470600-34476000	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:34470600-34476400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:34470800-34475400	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:34470800-34476000	Strong transcription	Brain Anterior Caudate	brain
16	chr11:34470800-34476200	Strong transcription	K562	blood
17	chr11:34470800-34488000	Strong transcription	Brain Hippocampus Middle	brain
18	chr11:34470800-34488000	Strong transcription	Fetal Intestine Large	intestine
19	chr11:34470800-34494200	Strong transcription	Brain Germinal Matrix	brain
20	chr11:34470800-34495600	Strong transcription	Stomach Smooth Muscle	stomach
21	chr11:34471000-34478600	Strong transcription	GM12878-XiMat	blood
22	chr11:34471000-34481400	Strong transcription	Fetal Lung	lung
23	chr11:34471000-34485400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:34471000-34487200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr11:34471000-34487400	Strong transcription	Osteobl	bone
26	chr11:34471000-34494000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:34471200-34479600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:34471200-34481200	Strong transcription	Fetal Brain Female	brain
29	chr11:34471200-34483400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:34471200-34487000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:34471400-34475800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:34471400-34475800	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:34471400-34475800	Strong transcription	HUVEC	blood vessel
34	chr11:34471400-34475800	Strong transcription	NHLF	lung
35	chr11:34471400-34476200	Strong transcription	Colonic Mucosa	Colon
36	chr11:34471400-34476400	Strong transcription	NH-A	brain
37	chr11:34471400-34476800	Strong transcription	Rectal Smooth Muscle	rectum
38	chr11:34471400-34477000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:34471400-34478600	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr11:34471400-34480200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:34471400-34481000	Strong transcription	Left Ventricle	heart
42	chr11:34471400-34481400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:34471400-34481600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr11:34471400-34481800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:34471400-34486400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:34471400-34486600	Strong transcription	Primary T cells from cord blood	blood
47	chr11:34471400-34487000	Strong transcription	Thymus	Thymus
48	chr11:34471400-34487200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:34471400-34487200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr11:34471400-34487400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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