Variant report

Variant	rs4930327
Chromosome Location	chr11:65695222-65695223
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	chr11:65695024..65697839-chr11:65700291..65702313,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10896069	0.89[ASN][1000 genomes]
rs11227352	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11227357	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11227358	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11227361	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11227363	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11227369	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11227380	1.00[AMR][1000 genomes]
rs11227394	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs1211380	0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12223658	0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12286846	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1892901	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2096903	0.89[ASN][1000 genomes]
rs2847698	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3741372	1.00[AMR][1000 genomes]
rs3814747	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs3814748	0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs4930165	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4930329	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4930331	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7103709	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7125150	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs744478	0.82[JPT][hapmap]
rs7937692	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs9666934	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
6	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
7	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
10	esv3444925	chr11:65687425-65714023	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65687800-65699800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:65688600-65699000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:65688800-65715000	Weak transcription	Right Atrium	heart
4	chr11:65690400-65695400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:65690400-65699000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:65690400-65699400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:65690400-65699600	Weak transcription	NH-A	brain
8	chr11:65690400-65699800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:65690400-65702000	Weak transcription	Fetal Brain Male	brain
10	chr11:65690600-65695400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:65690600-65695600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:65690600-65695600	Weak transcription	Lung	lung
13	chr11:65690600-65695600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:65690600-65696400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:65690600-65697800	Weak transcription	Gastric	stomach
16	chr11:65690600-65705000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:65690800-65695400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:65690800-65695400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:65690800-65701000	Weak transcription	Esophagus	oesophagus
20	chr11:65691000-65695400	Weak transcription	HSMMtube	muscle
21	chr11:65691000-65699600	Weak transcription	A549	lung
22	chr11:65691200-65695400	Weak transcription	Liver	Liver
23	chr11:65691200-65695400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:65691200-65695600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:65691200-65699800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:65691200-65700000	Weak transcription	Brain Anterior Caudate	brain
27	chr11:65691200-65708600	Weak transcription	HSMM	muscle
28	chr11:65691400-65696200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:65692200-65698800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:65692600-65695600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:65692600-65699400	Weak transcription	Fetal Lung	lung
32	chr11:65692600-65701600	Weak transcription	NHLF	lung
33	chr11:65692800-65695400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:65692800-65697800	Weak transcription	Fetal Intestine Small	intestine
35	chr11:65692800-65698800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:65692800-65699400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:65692800-65700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:65693000-65699400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:65693200-65699400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:65693400-65697000	Weak transcription	Brain Germinal Matrix	brain
41	chr11:65693400-65699000	Weak transcription	Fetal Brain Female	brain
42	chr11:65693400-65699400	Weak transcription	Placenta	Placenta
43	chr11:65693600-65701600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:65693800-65695400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr11:65694000-65695400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:65694000-65695600	Weak transcription	Fetal Stomach	stomach
47	chr11:65694000-65696600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:65694000-65708200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:65694200-65695400	Enhancers	Fetal Thymus	thymus
50	chr11:65694600-65695400	Enhancers	Primary B cells from cord blood	blood

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