Variant report

Variant	rs73538980
Chromosome Location	chr16:47281533-47281534
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	chr16:47281267..47281944-chr3:111725286..111725871,2	MCF-7	breast:
2	chr16:47269900..47272616-chr16:47277828..47281996,3	K562	blood:

Variant related genes	Relation type
ENSG00000129636	Chromatin interaction

Extended variants
information (count: 156 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs1018171	1.00[EUR][1000 genomes]
rs11859615	0.89[EUR][1000 genomes]
rs11860257	0.92[EUR][1000 genomes]
rs11860969	0.89[EUR][1000 genomes]
rs11861008	0.92[EUR][1000 genomes]
rs11862517	0.92[EUR][1000 genomes]
rs11865790	0.89[EUR][1000 genomes]
rs13330181	0.92[EUR][1000 genomes]
rs13330194	0.86[EUR][1000 genomes]
rs13330699	0.92[EUR][1000 genomes]
rs13330832	0.92[EUR][1000 genomes]
rs13331418	0.92[EUR][1000 genomes]
rs13332032	0.92[EUR][1000 genomes]
rs13332800	0.96[EUR][1000 genomes]
rs13333003	0.81[EUR][1000 genomes]
rs13334239	0.92[EUR][1000 genomes]
rs13334342	0.92[EUR][1000 genomes]
rs13334981	0.86[EUR][1000 genomes]
rs13335171	0.92[EUR][1000 genomes]
rs13336943	0.92[EUR][1000 genomes]
rs13338489	0.92[EUR][1000 genomes]
rs13338735	1.00[ASN][1000 genomes]
rs13339357	0.92[EUR][1000 genomes]
rs13339406	1.00[EUR][1000 genomes]
rs1541589	0.92[EUR][1000 genomes]
rs16945353	0.92[EUR][1000 genomes]
rs16945354	0.92[EUR][1000 genomes]
rs16945357	0.92[EUR][1000 genomes]
rs16945358	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16945372	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16945379	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16945382	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16952126	0.89[EUR][1000 genomes]
rs16952129	0.89[EUR][1000 genomes]
rs16952174	0.89[EUR][1000 genomes]
rs16952501	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16952538	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16952589	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16952886	0.89[EUR][1000 genomes]
rs16953067	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16953992	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954067	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16955095	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16955781	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16956024	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16956031	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16956083	0.92[EUR][1000 genomes]
rs16956093	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2062968	1.00[EUR][1000 genomes]
rs2078256	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2231981	0.89[EUR][1000 genomes]
rs28450418	0.92[EUR][1000 genomes]
rs28457669	0.89[EUR][1000 genomes]
rs28532949	0.89[EUR][1000 genomes]
rs28566542	0.92[EUR][1000 genomes]
rs28577929	0.92[EUR][1000 genomes]
rs28681341	0.92[EUR][1000 genomes]
rs28840689	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28844885	0.92[EUR][1000 genomes]
rs28898390	0.92[EUR][1000 genomes]
rs4386162	0.89[EUR][1000 genomes]
rs56819508	0.92[EUR][1000 genomes]
rs56830681	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57543382	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57772915	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57884999	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58251914	0.92[EUR][1000 genomes]
rs58837077	1.00[EUR][1000 genomes]
rs59305841	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59453301	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59547333	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59992453	0.81[EUR][1000 genomes]
rs60237214	0.89[EUR][1000 genomes]
rs61078258	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6598800	0.89[EUR][1000 genomes]
rs7184206	0.89[EUR][1000 genomes]
rs7185641	0.92[EUR][1000 genomes]
rs7185915	0.92[EUR][1000 genomes]
rs7186492	0.89[EUR][1000 genomes]
rs7188942	0.89[EUR][1000 genomes]
rs7192537	0.92[EUR][1000 genomes]
rs7194190	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7197586	0.92[EUR][1000 genomes]
rs7197973	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7199958	0.92[EUR][1000 genomes]
rs7200041	0.92[EUR][1000 genomes]
rs7200149	0.92[EUR][1000 genomes]
rs7200554	0.92[EUR][1000 genomes]
rs7201148	0.89[EUR][1000 genomes]
rs7202716	0.92[EUR][1000 genomes]
rs7202975	0.89[EUR][1000 genomes]
rs7204944	0.92[EUR][1000 genomes]
rs7206669	0.80[EUR][1000 genomes]
rs73536876	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73536884	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73536895	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73536899	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73538910	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73538974	1.00[EUR][1000 genomes]
rs73538991	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73538993	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73538997	0.92[EUR][1000 genomes]
rs73539001	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73541004	0.92[EUR][1000 genomes]
rs73541007	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73541010	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73541086	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73541089	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73541102	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73543108	0.92[EUR][1000 genomes]
rs73543111	0.92[EUR][1000 genomes]
rs73543118	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73547271	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73547284	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73547290	0.92[EUR][1000 genomes]
rs73549309	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73549315	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7498593	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7499413	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8044842	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8047754	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8048801	0.89[EUR][1000 genomes]
rs8053323	0.92[EUR][1000 genomes]
rs8055882	1.00[EUR][1000 genomes]
rs8063584	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9328592	0.92[EUR][1000 genomes]
rs9328707	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9921947	0.81[EUR][1000 genomes]
rs9922569	0.92[EUR][1000 genomes]
rs9922635	0.89[EUR][1000 genomes]
rs9923731	0.89[EUR][1000 genomes]
rs9926490	0.92[EUR][1000 genomes]
rs9926965	0.89[EUR][1000 genomes]
rs9927084	0.89[EUR][1000 genomes]
rs9928466	0.86[EUR][1000 genomes]
rs9928688	0.89[EUR][1000 genomes]
rs9932230	0.92[EUR][1000 genomes]
rs9933052	0.92[EUR][1000 genomes]
rs9935641	0.89[EUR][1000 genomes]
rs9936810	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active 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	28 gene(s)	inside rSNPs	diseases
4	esv1803802	chr16:47115776-47367144	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv906660	chr16:47123724-47347780	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1059763	chr16:47147194-47373834	ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv528423	chr16:47163874-47347780	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1821100	chr16:47171333-47330244	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv525170	chr16:47194051-47303635	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv1821089	chr16:47223418-47330244	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv1832105	chr16:47223418-47347780	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
16	nsv1060396	chr16:47264261-47469345	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47178800-47296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:47230000-47332600	Weak transcription	Thymus	Thymus
3	chr16:47231800-47298600	Weak transcription	Right Ventricle	heart
4	chr16:47232400-47291200	Weak transcription	GM12878-XiMat	blood
5	chr16:47236200-47291600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:47245200-47291600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr16:47245400-47294400	Weak transcription	Pancreas	Pancrea
8	chr16:47246200-47291000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr16:47246800-47298600	Weak transcription	Brain Angular Gyrus	brain
10	chr16:47247200-47299000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:47247600-47290000	Weak transcription	Esophagus	oesophagus
12	chr16:47248000-47290600	Weak transcription	HepG2	liver
13	chr16:47250400-47291400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr16:47250400-47296600	Weak transcription	Lung	lung
15	chr16:47251200-47289600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr16:47251600-47291000	Weak transcription	HSMM	muscle
17	chr16:47252000-47291800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr16:47252200-47291200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr16:47252800-47291000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:47252800-47291400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:47253000-47290800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:47253200-47291000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr16:47253200-47294400	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:47253400-47294800	Weak transcription	Psoas Muscle	Psoas
25	chr16:47258400-47292000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:47258600-47291400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr16:47258600-47291600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr16:47258600-47298400	Weak transcription	Fetal Intestine Small	intestine
29	chr16:47259200-47291400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr16:47259400-47286200	Weak transcription	Fetal Lung	lung
31	chr16:47259600-47291600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:47259800-47298200	Weak transcription	Colonic Mucosa	Colon
33	chr16:47260800-47293800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:47262400-47296600	Weak transcription	Gastric	stomach
35	chr16:47263400-47291400	Weak transcription	Left Ventricle	heart
36	chr16:47263400-47294200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr16:47263600-47297200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr16:47264200-47321000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr16:47264400-47290800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr16:47264400-47291000	Weak transcription	K562	blood
41	chr16:47264400-47291600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr16:47264600-47290800	Weak transcription	Fetal Muscle Leg	muscle
43	chr16:47264600-47291800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr16:47264600-47296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:47264600-47296600	Weak transcription	Aorta	Aorta
46	chr16:47264600-47296600	Weak transcription	Spleen	Spleen
47	chr16:47266000-47298800	Weak transcription	Brain Anterior Caudate	brain
48	chr16:47266200-47291600	Weak transcription	HSMMtube	muscle
49	chr16:47268000-47291600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr16:47269400-47286400	Weak transcription	Primary T cells from cord blood	blood

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