Variant report

Variant	rs60363317
Chromosome Location	chr12:12610174-12610175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12509893..12512192-chr12:12607942..12610815,2	MCF-7	breast:
2	chr12:12609394..12612369-chr12:12615599..12621309,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205791	Chromatin interaction
ENSG00000165714	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11831188	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831555	1.00[ASN][1000 genomes]
rs16908006	1.00[ASN][1000 genomes]
rs16908019	1.00[ASN][1000 genomes]
rs1861674	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763824	1.00[ASN][1000 genomes]
rs4763827	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763828	1.00[ASN][1000 genomes]
rs4763831	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56261569	0.81[ASN][1000 genomes]
rs58218344	1.00[ASN][1000 genomes]
rs58529509	1.00[ASN][1000 genomes]
rs60022096	1.00[ASN][1000 genomes]
rs60971404	1.00[ASN][1000 genomes]
rs6488521	1.00[ASN][1000 genomes]
rs6488523	1.00[ASN][1000 genomes]
rs6488524	1.00[ASN][1000 genomes]
rs6488527	1.00[ASN][1000 genomes]
rs7133988	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134787	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs714480	1.00[ASN][1000 genomes]
rs7306292	1.00[ASN][1000 genomes]
rs73287587	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957014	1.00[ASN][1000 genomes]
rs7973069	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975061	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978842	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980390	1.00[ASN][1000 genomes]
rs888198	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898810	chr12:12600080-12627410	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3501463	chr12:12609779-12610326	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3391765	chr12:12609789-12610324	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3501474	chr12:12609793-12610322	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12590600-12614600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:12594400-12618200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:12595200-12618600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:12596000-12620200	Weak transcription	HSMM	muscle
5	chr12:12596000-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:12596200-12620600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:12596800-12618200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:12596800-12618200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:12597000-12617800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:12597400-12618200	Weak transcription	Gastric	stomach
11	chr12:12597400-12629000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:12599000-12618600	Weak transcription	Left Ventricle	heart
13	chr12:12600600-12616800	Weak transcription	Fetal Stomach	stomach
14	chr12:12600800-12610200	Weak transcription	Brain Anterior Caudate	brain
15	chr12:12601000-12620200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:12602200-12610600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:12602600-12610600	Weak transcription	Brain Angular Gyrus	brain
18	chr12:12603200-12618400	Weak transcription	Esophagus	oesophagus
19	chr12:12603400-12618600	Weak transcription	Pancreas	Pancrea
20	chr12:12603800-12614200	Weak transcription	Aorta	Aorta
21	chr12:12603800-12639200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:12604000-12628600	Weak transcription	Fetal Lung	lung
23	chr12:12604600-12613600	Weak transcription	Fetal Intestine Small	intestine
24	chr12:12604600-12618600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:12605200-12618400	Weak transcription	Liver	Liver
26	chr12:12605600-12610400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:12607800-12629400	Weak transcription	Fetal Kidney	kidney
28	chr12:12608400-12627200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:12608400-12629600	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:12609000-12611000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:12609000-12611200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:12609000-12611400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:12609000-12623400	Weak transcription	A549	lung
34	chr12:12609200-12610200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:12609200-12610200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr12:12609200-12610200	Enhancers	HUVEC	blood vessel
37	chr12:12609200-12610400	Enhancers	Fetal Intestine Large	intestine
38	chr12:12609200-12610600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:12609200-12610800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:12609200-12611000	Enhancers	NH-A	brain
41	chr12:12609200-12611200	Enhancers	Brain Hippocampus Middle	brain
42	chr12:12609200-12611400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr12:12609200-12626800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:12609400-12610200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr12:12609400-12610600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:12609400-12611000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:12609400-12611200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:12609400-12611400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:12609400-12611400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:12609400-12611400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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