Variant report

Variant	rs58023561
Chromosome Location	chr12:1605584-1605585
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	chr12:1603741..1607368-chr12:1607408..1611728,5	K562	blood:
2	chr12:1603741..1607368-chr12:1607408..1611542,6	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11061763	1.00[ASN][1000 genomes]
rs11829753	0.92[EUR][1000 genomes]
rs12300475	1.00[ASN][1000 genomes]
rs12309872	1.00[ASN][1000 genomes]
rs12318883	1.00[ASN][1000 genomes]
rs12319342	1.00[ASN][1000 genomes]
rs12319376	1.00[ASN][1000 genomes]
rs16927897	1.00[ASN][1000 genomes]
rs16928481	1.00[ASN][1000 genomes]
rs16928482	1.00[ASN][1000 genomes]
rs2057801	1.00[ASN][1000 genomes]
rs58064734	0.89[EUR][1000 genomes]
rs59394469	1.00[ASN][1000 genomes]
rs60912810	0.85[EUR][1000 genomes]
rs6489287	1.00[ASN][1000 genomes]
rs7969825	1.00[ASN][1000 genomes]
rs7973613	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised 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
11	nsv1049247	chr12:1566534-1671806	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1049391	chr12:1589463-1622803	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1051478	chr12:1590503-1626412	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv556950	chr12:1603428-1638868	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1598400-1610200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:1598400-1610800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:1598600-1606600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:1598800-1608600	Weak transcription	A549	lung
5	chr12:1600000-1605600	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:1600600-1607600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:1600800-1612600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:1600800-1613600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:1601000-1605600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:1601200-1609400	Weak transcription	Hela-S3	cervix
11	chr12:1601400-1606600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:1601600-1605800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:1601600-1605800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:1601800-1605600	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:1601800-1605800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:1601800-1606400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:1602000-1605800	Weak transcription	Brain Angular Gyrus	brain
18	chr12:1602000-1606200	Weak transcription	Aorta	Aorta
19	chr12:1602000-1609400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:1602000-1609400	Weak transcription	Fetal Brain Male	brain
21	chr12:1602000-1609400	Weak transcription	Thymus	Thymus
22	chr12:1602200-1609400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:1602200-1609400	Weak transcription	Brain Anterior Caudate	brain
24	chr12:1602200-1611400	Weak transcription	Fetal Brain Female	brain
25	chr12:1602200-1613800	Weak transcription	Primary B cells from cord blood	blood
26	chr12:1602400-1608000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:1603400-1606000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:1603400-1607400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:1603400-1611400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:1603600-1605600	Weak transcription	Fetal Intestine Large	intestine
31	chr12:1603600-1609400	Weak transcription	Spleen	Spleen
32	chr12:1603600-1609400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr12:1603600-1609600	Weak transcription	Left Ventricle	heart
34	chr12:1603600-1611200	Weak transcription	Brain Germinal Matrix	brain
35	chr12:1603800-1606000	Weak transcription	Liver	Liver
36	chr12:1604600-1605600	Enhancers	Fetal Muscle Trunk	muscle
37	chr12:1604600-1606000	Enhancers	Pancreas	Pancrea
38	chr12:1604800-1605600	Enhancers	Fetal Muscle Leg	muscle
39	chr12:1604800-1605600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr12:1604800-1605800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:1604800-1606600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:1604800-1606800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:1604800-1613400	Weak transcription	Primary T cells from cord blood	blood
44	chr12:1605000-1605600	Enhancers	Fetal Lung	lung
45	chr12:1605000-1605800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:1605000-1606000	Flanking Active TSS	HSMMtube	muscle
47	chr12:1605000-1607200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:1605000-1611600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:1605000-1611800	Weak transcription	Fetal Intestine Small	intestine
50	chr12:1605200-1605600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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