Variant report

Variant	rs73544953
Chromosome Location	chr11:107668653-107668654
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107663159..107665072-chr11:107667163..107669875,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11824910	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12280019	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12281832	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12577389	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17107496	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305287	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28421595	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2851458	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35129453	0.81[AFR][1000 genomes]
rs4753816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4753817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754251	0.82[AMR][1000 genomes]
rs4754253	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4754254	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4754255	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4754257	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4754260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57278949	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59414522	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7109991	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7122701	1.00[ASN][1000 genomes]
rs7127864	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73544920	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73544924	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73544936	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73544947	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546810	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7935788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804592	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9804688	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1052198	chr11:107509918-107684371	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
10	nsv556378	chr11:107621538-107671626	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv556379	chr11:107627609-107671626	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv527748	chr11:107627852-107670228	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv556380	chr11:107644296-107671626	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
14	nsv556381	chr11:107644296-107684371	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
15	esv2760411	chr11:107646932-107672045	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
16	nsv1036874	chr11:107648305-107679828	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
17	nsv520229	chr11:107649026-107670228	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
18	nsv898379	chr11:107649026-107673300	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
19	nsv468867	chr11:107649026-107697633	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
20	nsv556382	chr11:107649026-107697633	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
21	nsv556383	chr11:107651095-107671626	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
22	nsv556384	chr11:107651095-107672045	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
23	esv18098	chr11:107653021-107672290	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
24	esv2421534	chr11:107653081-107671601	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
25	nsv556385	chr11:107653081-107671626	ZNF genes & repeats Enhancers Strong transcription Genic enhancers Weak transcription Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
26	nsv556386	chr11:107653081-107672045	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
27	nsv898380	chr11:107653081-107673300	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
28	nsv1035229	chr11:107653731-107717190	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
29	nsv442244	chr11:107653743-107671188	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
30	esv2762944	chr11:107653743-107672045	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
31	nsv556387	chr11:107655949-107671626	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
32	nsv556388	chr11:107655949-107673300	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
33	esv2829960	chr11:107661242-107670228	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107654000-107676800	Weak transcription	NH-A	brain
2	chr11:107656600-107673400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:107656600-107679800	Weak transcription	Osteobl	bone
4	chr11:107656800-107673800	Weak transcription	K562	blood
5	chr11:107658800-107679000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:107658800-107680600	Weak transcription	Small Intestine	intestine
7	chr11:107659000-107679200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:107659400-107679200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:107660800-107676800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:107661000-107671200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:107661000-107678600	Weak transcription	Lung	lung
12	chr11:107661000-107693200	Weak transcription	Spleen	Spleen
13	chr11:107661200-107676000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:107661600-107679600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:107661800-107675600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:107661800-107679200	Weak transcription	Aorta	Aorta
17	chr11:107661800-107680600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:107661800-107685800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:107661800-107691800	Weak transcription	Esophagus	oesophagus
20	chr11:107662000-107674400	Weak transcription	Adipose Nuclei	Adipose
21	chr11:107662200-107681000	Weak transcription	Hela-S3	cervix
22	chr11:107662400-107675800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:107662400-107682800	Weak transcription	Pancreas	Pancrea
24	chr11:107662400-107686400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:107662800-107683800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:107663000-107682800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:107663000-107683400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:107663000-107683600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:107663200-107684200	Weak transcription	HepG2	liver
30	chr11:107663200-107690200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:107663600-107676000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:107663600-107679000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:107663600-107682200	Weak transcription	Ovary	ovary
34	chr11:107664000-107669400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:107664000-107670000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:107664000-107672200	Weak transcription	Fetal Intestine Small	intestine
37	chr11:107664000-107676400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:107664200-107673000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:107664200-107673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:107664400-107673200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:107664600-107683800	Weak transcription	Stomach Mucosa	stomach
42	chr11:107664600-107686000	Weak transcription	Gastric	stomach
43	chr11:107665200-107675800	Weak transcription	NHEK	skin
44	chr11:107665400-107675000	Weak transcription	A549	lung
45	chr11:107665800-107671000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:107665800-107675800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:107666000-107671200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:107666000-107672200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:107666000-107673200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:107666200-107671200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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