Variant report

Variant	rs59397548
Chromosome Location	chr12:122468756-122468757
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122466594..122469077-chr12:122514843..122517151,2	MCF-7	breast:
2	chr12:122467382..122468928-chr12:122633431..122635226,2	K562	blood:
3	chr12:122366146..122368604-chr12:122467424..122470233,2	MCF-7	breast:
4	chr12:122465918..122468766-chr12:122476959..122479262,2	K562	blood:
5	chr12:122394265..122395832-chr12:122468104..122470419,2	MCF-7	breast:
6	chr12:122468026..122469813-chr12:122599800..122601470,2	K562	blood:
7	chr12:122239067..122243292-chr12:122466352..122470138,4	MCF-7	breast:
8	chr12:122392364..122395204-chr12:122467320..122469224,2	K562	blood:
9	chr12:122467922..122470622-chr12:122594628..122596411,2	MCF-7	breast:
10	chr12:122468573..122470930-chr12:122610442..122612182,2	MCF-7	breast:
11	chr12:122390662..122395297-chr12:122466472..122469968,4	MCF-7	breast:
12	chr12:122241638..122243291-chr12:122468196..122471069,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000139718	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1169091	0.80[AMR][1000 genomes]
rs1169094	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169095	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1169096	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678970	0.80[AMR][1000 genomes]
rs1678971	0.81[AMR][1000 genomes]
rs2272133	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs671293	0.83[ASN][1000 genomes]
rs745327	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs830120	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122461600-122492400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:122461800-122473200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:122461800-122476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:122462000-122473200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:122462000-122473400	Weak transcription	Primary T cells from cord blood	blood
6	chr12:122462000-122492400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:122462200-122469200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:122462200-122469600	Weak transcription	Gastric	stomach
9	chr12:122462200-122472800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:122462200-122473000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:122462200-122473200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:122462200-122473400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:122462200-122474200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:122462200-122489000	Weak transcription	HUVEC	blood vessel
15	chr12:122462400-122469400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:122462400-122470000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:122462400-122473200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:122462400-122473200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:122462400-122473200	Weak transcription	Aorta	Aorta
20	chr12:122462400-122473200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:122462400-122477800	Weak transcription	Fetal Kidney	kidney
22	chr12:122462400-122481800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:122462400-122489000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:122462400-122490400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:122462400-122492200	Weak transcription	Stomach Mucosa	stomach
26	chr12:122462400-122500000	Weak transcription	Hela-S3	cervix
27	chr12:122462600-122478000	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:122462800-122473000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:122463200-122470000	Enhancers	Primary B cells from cord blood	blood
30	chr12:122464200-122469000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:122464400-122470600	Enhancers	Pancreas	Pancrea
32	chr12:122465200-122473200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:122465600-122470200	Enhancers	Left Ventricle	heart
34	chr12:122465600-122470800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr12:122465800-122470200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr12:122466200-122500800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:122466400-122469000	Enhancers	Esophagus	oesophagus
38	chr12:122466400-122473600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:122466400-122489000	Weak transcription	NHLF	lung
40	chr12:122466600-122468800	Enhancers	Right Ventricle	heart
41	chr12:122466600-122468800	Enhancers	Spleen	Spleen
42	chr12:122466800-122472800	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:122466800-122490200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:122467000-122472800	Weak transcription	Adipose Nuclei	Adipose
45	chr12:122467000-122480600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:122467200-122469400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:122467200-122469400	Weak transcription	Fetal Brain Male	brain
48	chr12:122467200-122469800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:122467200-122472600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:122467200-122472800	Weak transcription	Brain Angular Gyrus	brain

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