Variant report

Variant	rs12821515
Chromosome Location	chr12:104610476-104610477
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104609767..104612445-chr12:104684528..104686596,2	K562	blood:
2	chr12:104601466..104604369-chr12:104609753..104612151,2	K562	blood:
3	chr12:104609573..104611470-chr12:104617391..104620267,2	K562	blood:
4	chr12:104609968..104613463-chr12:104614519..104618118,3	K562	blood:
5	chr12:104608375..104610840-chr12:104681920..104683609,3	MCF-7	breast:
6	chr12:104609776..104613159-chr12:104643212..104646798,4	K562	blood:
7	chr12:104606650..104611349-chr12:104679680..104683932,8	K562	blood:
8	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:
9	chr12:104458967..104460937-chr12:104609571..104611178,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10861167	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861168	0.83[EUR][1000 genomes]
rs11111926	0.82[EUR][1000 genomes]
rs11111927	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11111941	0.82[EUR][1000 genomes]
rs12814060	0.82[EUR][1000 genomes]
rs35724875	0.83[EUR][1000 genomes]
rs4290308	0.82[EUR][1000 genomes]
rs7306728	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104609400-104610600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:104609400-104610600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:104609800-104612200	Weak transcription	NHDF-Ad	bronchial
4	chr12:104610000-104610800	Flanking Active TSS	Hela-S3	cervix
5	chr12:104610000-104612800	Weak transcription	Esophagus	oesophagus
6	chr12:104610000-104612800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:104610000-104613000	Weak transcription	HepG2	liver
8	chr12:104610000-104613200	Weak transcription	Fetal Kidney	kidney
9	chr12:104610000-104613600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:104610200-104610600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:104610200-104610800	Enhancers	Placenta	Placenta
12	chr12:104610200-104611000	Flanking Active TSS	A549	lung
13	chr12:104610200-104611200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:104610200-104611800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:104610200-104612200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:104610200-104612200	Weak transcription	HSMMtube	muscle
17	chr12:104610200-104612400	Weak transcription	HSMM	muscle
18	chr12:104610200-104612600	Weak transcription	Lung	lung
19	chr12:104610200-104612800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:104610200-104612800	Weak transcription	Pancreas	Pancrea
21	chr12:104610200-104612800	Weak transcription	Small Intestine	intestine
22	chr12:104610200-104612800	Weak transcription	K562	blood
23	chr12:104610200-104612800	Weak transcription	NH-A	brain
24	chr12:104610200-104613000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:104610200-104613200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:104610200-104613600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:104610200-104613800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:104610200-104614800	Weak transcription	Gastric	stomach
29	chr12:104610400-104610600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr12:104610400-104610600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
31	chr12:104610400-104610600	Enhancers	Right Ventricle	heart
32	chr12:104610400-104610600	Active TSS	Stomach Smooth Muscle	stomach
33	chr12:104610400-104610600	Active TSS	NHEK	skin
34	chr12:104610400-104610800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:104610400-104610800	Enhancers	Ovary	ovary
36	chr12:104610400-104610800	Enhancers	Right Atrium	heart
37	chr12:104610400-104610800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr12:104610400-104611000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:104610400-104611800	Weak transcription	Left Ventricle	heart
40	chr12:104610400-104612000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:104610400-104612000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:104610400-104612000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:104610400-104612000	Weak transcription	NHLF	lung
44	chr12:104610400-104612200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:104610400-104612200	Weak transcription	HMEC	breast
46	chr12:104610400-104612400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:104610400-104612600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr12:104610400-104612800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:104610400-104612800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:104610400-104612800	Weak transcription	Brain Substantia Nigra	brain

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