Variant report

Variant	rs73348217
Chromosome Location	chr12:58343069-58343070
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	chr12:58335319..58338203-chr12:58340129..58346317,10	K562	blood:
2	chr12:58334540..58337378-chr12:58339251..58345306,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166896	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28704571	1.00[AMR][1000 genomes]
rs4760331	1.00[AMR][1000 genomes]
rs56218802	1.00[AMR][1000 genomes]
rs73338256	1.00[AMR][1000 genomes]
rs73340215	1.00[AMR][1000 genomes]
rs73340232	1.00[AMR][1000 genomes]
rs73340240	1.00[AMR][1000 genomes]
rs73340266	1.00[AMR][1000 genomes]
rs73340267	1.00[AMR][1000 genomes]
rs73342234	1.00[AMR][1000 genomes]
rs73344379	1.00[AMR][1000 genomes]
rs73344382	1.00[AMR][1000 genomes]
rs73344386	1.00[AMR][1000 genomes]
rs73344388	1.00[AMR][1000 genomes]
rs73346380	1.00[AMR][1000 genomes]
rs73348214	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7956170	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58336000-58344800	Weak transcription	Left Ventricle	heart
2	chr12:58336000-58345200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:58336000-58347600	Weak transcription	Esophagus	oesophagus
4	chr12:58336000-58348400	Weak transcription	Gastric	stomach
5	chr12:58336000-58348600	Weak transcription	Aorta	Aorta
6	chr12:58336000-58348600	Weak transcription	Lung	lung
7	chr12:58336000-58351000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:58336000-58351000	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:58336000-58351200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:58336000-58351200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:58336000-58351200	Weak transcription	Spleen	Spleen
12	chr12:58336000-58353000	Weak transcription	Small Intestine	intestine
13	chr12:58336200-58344800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:58336200-58345000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:58336200-58346600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:58336200-58346600	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:58336200-58347600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:58336200-58350600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:58336200-58350600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:58336200-58350800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:58336200-58351000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:58336200-58351000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:58336200-58351000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:58336200-58351200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:58336200-58351200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:58336200-58351200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:58336200-58351200	Weak transcription	Fetal Intestine Small	intestine
28	chr12:58336200-58351200	Weak transcription	Placenta	Placenta
29	chr12:58336200-58351400	Weak transcription	Brain Anterior Caudate	brain
30	chr12:58336200-58351400	Weak transcription	Fetal Lung	lung
31	chr12:58336200-58351600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:58336200-58351600	Weak transcription	HUVEC	blood vessel
33	chr12:58336200-58353000	Weak transcription	Stomach Mucosa	stomach
34	chr12:58336200-58353400	Weak transcription	Fetal Kidney	kidney
35	chr12:58336200-58353600	Weak transcription	Brain Substantia Nigra	brain
36	chr12:58336200-58353600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:58336200-58353800	Weak transcription	Brain Angular Gyrus	brain
38	chr12:58336200-58353800	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:58336200-58354000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:58336200-58354000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:58336200-58354000	Weak transcription	Psoas Muscle	Psoas
42	chr12:58336200-58356200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:58336200-58359600	Weak transcription	A549	lung
44	chr12:58336400-58343200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:58336400-58343600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr12:58336400-58344800	Weak transcription	Pancreas	Pancrea
47	chr12:58336400-58351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:58336400-58351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:58336400-58351200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:58336400-58359600	Weak transcription	HMEC	breast

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