Variant report

Variant	rs60903309
Chromosome Location	chr12:104612169-104612170
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104609767..104612445-chr12:104684528..104686596,2	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	chr12:104603545..104605144-chr12:104611962..104614004,2	K562	blood:
8	chr12:104609776..104613159-chr12:104643212..104646798,4	K562	blood:
9	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:
10	chr12:104611527..104621556-chr12:104677756..104684608,20	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10745993	0.87[AFR][1000 genomes]
rs10861169	0.93[AFR][1000 genomes]
rs10861170	0.94[AFR][1000 genomes]
rs10861171	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320159	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321026	0.87[AFR][1000 genomes]
rs4609668	0.81[AFR][1000 genomes]
rs4964256	0.85[AFR][1000 genomes]
rs4964678	0.87[AFR][1000 genomes]
rs6539130	0.85[AFR][1000 genomes]
rs7296260	0.84[EUR][1000 genomes]
rs7297296	0.85[AFR][1000 genomes]
rs73392585	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394503	1.00[ASN][1000 genomes]
rs7966970	0.87[AFR][1000 genomes]
rs7975524	0.87[AFR][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	chr12:104609800-104612200	Weak transcription	NHDF-Ad	bronchial
2	chr12:104610000-104612800	Weak transcription	Esophagus	oesophagus
3	chr12:104610000-104612800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:104610000-104613000	Weak transcription	HepG2	liver
5	chr12:104610000-104613200	Weak transcription	Fetal Kidney	kidney
6	chr12:104610000-104613600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:104610200-104612200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:104610200-104612200	Weak transcription	HSMMtube	muscle
9	chr12:104610200-104612400	Weak transcription	HSMM	muscle
10	chr12:104610200-104612600	Weak transcription	Lung	lung
11	chr12:104610200-104612800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:104610200-104612800	Weak transcription	Pancreas	Pancrea
13	chr12:104610200-104612800	Weak transcription	Small Intestine	intestine
14	chr12:104610200-104612800	Weak transcription	K562	blood
15	chr12:104610200-104612800	Weak transcription	NH-A	brain
16	chr12:104610200-104613000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:104610200-104613200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:104610200-104613600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:104610200-104613800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:104610200-104614800	Weak transcription	Gastric	stomach
21	chr12:104610400-104612200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:104610400-104612200	Weak transcription	HMEC	breast
23	chr12:104610400-104612400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:104610400-104612600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:104610400-104612800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:104610400-104612800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:104610400-104612800	Weak transcription	Brain Substantia Nigra	brain
28	chr12:104610400-104612800	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:104610400-104612800	Weak transcription	Fetal Heart	heart
30	chr12:104610400-104612800	Weak transcription	Osteobl	bone
31	chr12:104610400-104613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:104610400-104613000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:104610400-104613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:104610400-104613000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:104610400-104613000	Weak transcription	Fetal Lung	lung
36	chr12:104610400-104613000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:104610400-104613000	Weak transcription	Stomach Mucosa	stomach
38	chr12:104610400-104613200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:104610400-104613200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:104610400-104613200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:104610400-104613200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:104610400-104613200	Weak transcription	Adipose Nuclei	Adipose
43	chr12:104610400-104613200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:104610400-104613400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr12:104610400-104613400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:104610400-104613600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:104610400-104613600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:104610400-104613600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr12:104610400-104613600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:104610400-104613600	Enhancers	HUVEC	blood vessel

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