Variant report

Variant	rs12317780
Chromosome Location	chr12:50621243-50621244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50619415..50622343-chr12:50625423..50628293,2	MCF-7	breast:
2	chr12:50620838..50622900-chr12:50627214..50629542,2	K562	blood:
3	chr12:50619714..50622106-chr12:50639705..50642592,2	K562	blood:
4	chr12:50609647..50612580-chr12:50618531..50621361,2	K562	blood:
5	chr12:50620289..50622282-chr12:50677443..50680313,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203433	Chromatin interaction
ENSG00000221604	Chromatin interaction
ENSG00000257531	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10083076	1.00[AMR][1000 genomes]
rs11169403	1.00[AMR][1000 genomes]
rs12297832	1.00[AMR][1000 genomes]
rs12298057	1.00[AMR][1000 genomes]
rs12302910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308132	1.00[AMR][1000 genomes]
rs12308735	1.00[AMR][1000 genomes]
rs12312142	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314391	1.00[AMR][1000 genomes]
rs12316153	1.00[AMR][1000 genomes]
rs12318245	1.00[AMR][1000 genomes]
rs7298085	1.00[AMR][1000 genomes]
rs7305783	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9651998	0.93[AFR][1000 genomes];1.00[AMR][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	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50599800-50635800	Weak transcription	Pancreas	Pancrea
2	chr12:50609200-50633200	Weak transcription	Small Intestine	intestine
3	chr12:50615800-50622000	Weak transcription	Fetal Brain Female	brain
4	chr12:50616200-50633200	Weak transcription	Lung	lung
5	chr12:50616400-50628400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:50616400-50632000	Weak transcription	Fetal Brain Male	brain
7	chr12:50616400-50634000	Weak transcription	Gastric	stomach
8	chr12:50616400-50634000	Weak transcription	Ovary	ovary
9	chr12:50616400-50636200	Weak transcription	Left Ventricle	heart
10	chr12:50616600-50621600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:50616600-50628200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:50616600-50632200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:50616600-50634000	Weak transcription	Colonic Mucosa	Colon
14	chr12:50616600-50634000	Weak transcription	Psoas Muscle	Psoas
15	chr12:50616600-50634000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:50616800-50625200	Weak transcription	Brain Substantia Nigra	brain
17	chr12:50616800-50626800	Weak transcription	Fetal Kidney	kidney
18	chr12:50616800-50636400	Weak transcription	Aorta	Aorta
19	chr12:50616800-50641600	Weak transcription	Brain Angular Gyrus	brain
20	chr12:50616800-50651800	Weak transcription	Brain Anterior Caudate	brain
21	chr12:50617000-50621400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:50617000-50626800	Weak transcription	Adipose Nuclei	Adipose
23	chr12:50617000-50632800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:50617000-50634000	Weak transcription	NHLF	lung
25	chr12:50617000-50636200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:50617200-50621800	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:50617200-50628400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:50617200-50633000	Strong transcription	Fetal Intestine Small	intestine
29	chr12:50617400-50626800	Weak transcription	Fetal Lung	lung
30	chr12:50617400-50634600	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:50617400-50635600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:50617600-50638400	Weak transcription	Brain Germinal Matrix	brain
33	chr12:50618400-50622200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:50618400-50624600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:50618400-50625200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:50618600-50623600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:50618600-50625000	Weak transcription	HSMMtube	muscle
38	chr12:50618600-50626800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:50618600-50627000	Weak transcription	Stomach Mucosa	stomach
40	chr12:50618600-50628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:50618600-50628400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:50618600-50628400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:50618600-50628400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:50618600-50633800	Weak transcription	NHDF-Ad	bronchial
45	chr12:50618600-50634000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:50618600-50634000	Weak transcription	Osteobl	bone
47	chr12:50618600-50634400	Weak transcription	HSMM	muscle
48	chr12:50618600-50636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:50618600-50638400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:50618600-50640000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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