Variant report

Variant	rs73599916
Chromosome Location	chr12:1568138-1568139
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	chr12:1565787..1568238-chr12:1569679..1572728,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs59531263	0.95[AFR][1000 genomes]
rs59676203	1.00[AFR][1000 genomes]
rs73597996	0.84[AFR][1000 genomes]
rs73597997	0.84[AFR][1000 genomes]
rs73597998	0.95[AFR][1000 genomes]
rs73599905	0.95[AFR][1000 genomes]
rs73599909	0.95[AFR][1000 genomes]
rs73599912	1.00[AFR][1000 genomes]
rs73599919	1.00[AFR][1000 genomes]
rs73599984	1.00[AFR][1000 genomes]
rs73599986	1.00[AFR][1000 genomes]
rs73599994	1.00[AFR][1000 genomes]
rs73599995	1.00[AFR][1000 genomes]
rs73599999	1.00[AFR][1000 genomes]
rs73601903	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv573	chr12:1560167-1604539	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1530800-1583000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:1531400-1574200	Weak transcription	Thymus	Thymus
3	chr12:1532400-1581000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:1544800-1582800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:1545000-1583000	Weak transcription	HepG2	liver
6	chr12:1545400-1570600	Weak transcription	Fetal Intestine Large	intestine
7	chr12:1546000-1582000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:1546600-1583200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:1552600-1582600	Weak transcription	A549	lung
10	chr12:1552800-1572200	Weak transcription	Fetal Brain Female	brain
11	chr12:1552800-1598000	Weak transcription	Esophagus	oesophagus
12	chr12:1553400-1572800	Weak transcription	Fetal Kidney	kidney
13	chr12:1553400-1582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:1553600-1568200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:1553600-1572400	Weak transcription	Right Atrium	heart
16	chr12:1553600-1581800	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:1554000-1582600	Weak transcription	Ovary	ovary
18	chr12:1554200-1572200	Weak transcription	Aorta	Aorta
19	chr12:1554200-1582600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:1554800-1574800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:1555200-1584200	Weak transcription	Spleen	Spleen
22	chr12:1555400-1582600	Weak transcription	Placenta	Placenta
23	chr12:1555400-1582600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:1555800-1581600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:1556000-1572400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:1556200-1583000	Weak transcription	Hela-S3	cervix
27	chr12:1557600-1581800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:1558000-1582400	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:1558000-1583000	Weak transcription	Brain Angular Gyrus	brain
30	chr12:1558200-1571800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:1558200-1572200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:1558200-1574400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:1558200-1582000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:1558400-1574400	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:1558400-1599400	Weak transcription	Pancreas	Pancrea
36	chr12:1558600-1573200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:1558600-1581400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:1558800-1574200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:1558800-1574600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:1558800-1574800	Weak transcription	Fetal Stomach	stomach
41	chr12:1559800-1572800	Weak transcription	Adipose Nuclei	Adipose
42	chr12:1559800-1582600	Weak transcription	Primary B cells from cord blood	blood
43	chr12:1560000-1572200	Weak transcription	Fetal Lung	lung
44	chr12:1560200-1569800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:1560800-1575600	Weak transcription	Fetal Intestine Small	intestine
46	chr12:1561600-1569400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:1562600-1574800	Weak transcription	Lung	lung
48	chr12:1563400-1582800	Weak transcription	Brain Anterior Caudate	brain
49	chr12:1563800-1571400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:1563800-1574600	Weak transcription	Liver	Liver

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