Variant report

Variant	rs73394503
Chromosome Location	chr12:104612767-104612768
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104612288..104614036-chr12:104992703..104994366,2	K562	blood:
2	chr12:104611588..104614072-chr12:104619313..104622128,3	K562	blood:
3	chr12:104611665..104617222-chr12:104678192..104683063,15	MCF-7	breast:
4	chr12:104611975..104613835-chr12:104679727..104682653,3	K562	blood:
5	chr12:104605545..104609502-chr12:104611890..104614832,4	MCF-7	breast:
6	chr12:104609968..104613463-chr12:104614519..104618118,3	K562	blood:
7	chr12:104612436..104616572-chr12:104617042..104624166,8	MCF-7	breast:
8	chr12:104603545..104605144-chr12:104611962..104614004,2	K562	blood:
9	chr12:104609776..104613159-chr12:104643212..104646798,4	K562	blood:
10	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:
11	chr12:104611527..104621556-chr12:104677756..104684608,20	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10861171	1.00[ASN][1000 genomes]
rs11829922	0.94[EUR][1000 genomes]
rs11837739	0.82[EUR][1000 genomes]
rs11838277	0.82[EUR][1000 genomes]
rs12303096	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12303143	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12320159	1.00[ASN][1000 genomes]
rs12320661	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17035253	0.82[EUR][1000 genomes]
rs17035296	0.82[EUR][1000 genomes]
rs17807362	0.94[EUR][1000 genomes]
rs57040145	0.82[EUR][1000 genomes]
rs57416848	0.94[EUR][1000 genomes]
rs57718153	0.94[EUR][1000 genomes]
rs58729796	0.94[EUR][1000 genomes]
rs59185359	0.86[EUR][1000 genomes]
rs60264625	0.82[EUR][1000 genomes]
rs60903309	1.00[ASN][1000 genomes]
rs61690515	0.94[EUR][1000 genomes]
rs73392542	0.82[EUR][1000 genomes]
rs73392580	0.94[EUR][1000 genomes]
rs73392585	1.00[ASN][1000 genomes]
rs73392594	0.94[EUR][1000 genomes]
rs73394521	0.94[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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104610000-104612800	Weak transcription	Esophagus	oesophagus
2	chr12:104610000-104612800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:104610000-104613000	Weak transcription	HepG2	liver
4	chr12:104610000-104613200	Weak transcription	Fetal Kidney	kidney
5	chr12:104610000-104613600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:104610200-104612800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:104610200-104612800	Weak transcription	Pancreas	Pancrea
8	chr12:104610200-104612800	Weak transcription	Small Intestine	intestine
9	chr12:104610200-104612800	Weak transcription	K562	blood
10	chr12:104610200-104612800	Weak transcription	NH-A	brain
11	chr12:104610200-104613000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:104610200-104613200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:104610200-104613600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:104610200-104613800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:104610200-104614800	Weak transcription	Gastric	stomach
16	chr12:104610400-104612800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:104610400-104612800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:104610400-104612800	Weak transcription	Brain Substantia Nigra	brain
19	chr12:104610400-104612800	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:104610400-104612800	Weak transcription	Fetal Heart	heart
21	chr12:104610400-104612800	Weak transcription	Osteobl	bone
22	chr12:104610400-104613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:104610400-104613000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:104610400-104613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:104610400-104613000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:104610400-104613000	Weak transcription	Fetal Lung	lung
27	chr12:104610400-104613000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:104610400-104613000	Weak transcription	Stomach Mucosa	stomach
29	chr12:104610400-104613200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:104610400-104613200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:104610400-104613200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:104610400-104613200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:104610400-104613200	Weak transcription	Adipose Nuclei	Adipose
34	chr12:104610400-104613200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:104610400-104613400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:104610400-104613400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:104610400-104613600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:104610400-104613600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:104610400-104613600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:104610400-104613600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:104610400-104613600	Enhancers	HUVEC	blood vessel
42	chr12:104610400-104613800	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:104610600-104613200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:104610600-104613400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:104610800-104612800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:104610800-104612800	Enhancers	Hela-S3	cervix
47	chr12:104610800-104613200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:104610800-104613800	Weak transcription	Right Atrium	heart
49	chr12:104610800-104614800	Weak transcription	Ovary	ovary
50	chr12:104611600-104612800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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