Variant report

Variant	rs73040872
Chromosome Location	chr12:1479808-1479809
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	chr12:1478838..1481812-chr12:1484445..1488758,4	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10128898	0.87[ASN][1000 genomes]
rs12099759	0.82[ASN][1000 genomes]
rs12306442	0.87[ASN][1000 genomes]
rs16928398	0.82[ASN][1000 genomes]
rs34875056	0.82[ASN][1000 genomes]
rs56706235	0.87[ASN][1000 genomes]
rs58591108	0.82[ASN][1000 genomes]
rs59010136	0.82[ASN][1000 genomes]
rs60507093	0.82[ASN][1000 genomes]
rs6489283	0.87[ASN][1000 genomes]
rs6489285	0.84[ASN][1000 genomes]
rs7132825	0.87[ASN][1000 genomes]
rs7301869	0.87[ASN][1000 genomes]
rs7302582	0.89[EUR][1000 genomes]
rs73026462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73029182	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73029185	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73038684	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040878	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040881	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040882	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040896	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305331	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74057163	0.82[ASN][1000 genomes]
rs74057165	0.82[ASN][1000 genomes]
rs74057172	0.82[ASN][1000 genomes]
rs7958646	0.87[ASN][1000 genomes]
rs7970589	0.87[ASN][1000 genomes]
rs7978960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9668403	0.82[ASN][1000 genomes]
rs9668404	0.82[ASN][1000 genomes]
rs9669360	0.82[ASN][1000 genomes]
rs9669370	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948760	chr12:863833-1542875	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv898579	chr12:1013176-1510505	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv898580	chr12:1024688-1569097	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS 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	37 gene(s)	inside rSNPs	diseases
7	esv2762958	chr12:1049279-1554962	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1052559	chr12:1077964-1588543	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv898581	chr12:1084783-1527359	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv1046134	chr12:1153489-1675223	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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
11	nsv541344	chr12:1153489-1675223	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
13	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
14	nsv1039826	chr12:1259831-1483326	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1050361	chr12:1274052-1541558	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv556944	chr12:1308553-1569097	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
17	nsv898583	chr12:1314430-1507616	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv470257	chr12:1314430-1514021	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv1054178	chr12:1372157-1682699	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
20	nsv541347	chr12:1372157-1682699	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
21	nsv1035935	chr12:1400974-1608625	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
22	nsv1039946	chr12:1429190-1548852	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv1044918	chr12:1432740-1584649	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
24	nsv541348	chr12:1432740-1584649	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
25	nsv556949	chr12:1437726-1514021	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv1046515	chr12:1440896-1588543	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
27	nsv975621	chr12:1477974-1481966	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1428200-1500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:1439000-1497800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:1441000-1480200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:1442600-1480800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:1444200-1481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:1449800-1484400	Weak transcription	Esophagus	oesophagus
7	chr12:1450000-1480400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:1450000-1484200	Weak transcription	Aorta	Aorta
9	chr12:1450000-1500000	Weak transcription	Spleen	Spleen
10	chr12:1455400-1481200	Weak transcription	Brain Angular Gyrus	brain
11	chr12:1457600-1489000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:1460200-1485000	Weak transcription	Fetal Intestine Small	intestine
13	chr12:1460200-1485600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:1460200-1485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:1461400-1480200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:1461400-1483800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:1461600-1481600	Weak transcription	HMEC	breast
18	chr12:1465400-1489000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:1466600-1483000	Weak transcription	Fetal Stomach	stomach
20	chr12:1466800-1483200	Weak transcription	NHLF	lung
21	chr12:1467400-1481000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:1470000-1482800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:1470400-1481800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:1470800-1482800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:1471000-1480800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:1471800-1487200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:1472000-1487800	Weak transcription	K562	blood
28	chr12:1473200-1481000	Weak transcription	Right Atrium	heart
29	chr12:1473200-1500400	Weak transcription	Right Ventricle	heart
30	chr12:1473400-1485000	Weak transcription	Left Ventricle	heart
31	chr12:1474000-1483800	Weak transcription	Primary B cells from cord blood	blood
32	chr12:1474200-1480400	Weak transcription	Primary T cells from cord blood	blood
33	chr12:1475200-1481000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:1475200-1482200	Weak transcription	NHEK	skin
35	chr12:1475600-1496800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:1476200-1488600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:1477000-1480200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:1477000-1486200	Weak transcription	HepG2	liver
39	chr12:1477000-1489400	Weak transcription	Brain Anterior Caudate	brain
40	chr12:1477000-1489400	Weak transcription	Fetal Brain Male	brain
41	chr12:1477000-1489400	Weak transcription	Lung	lung
42	chr12:1477000-1500000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:1477200-1481200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:1477200-1483200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:1477200-1483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:1477200-1484400	Weak transcription	Fetal Brain Female	brain
47	chr12:1477200-1489000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:1477200-1500000	Weak transcription	Fetal Kidney	kidney
49	chr12:1477400-1499800	Weak transcription	HSMM	muscle
50	chr12:1477800-1483000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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