Variant report

Variant	rs73157198
Chromosome Location	chr13:30498685-30498686
allele	C/T
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:30498204..30500565-chr13:30503827..30506540,2	MCF-7	breast:
2	chr13:30498097..30498956-chr13:30679446..30680175,2	MCF-7	breast:
3	chr13:30480230..30482244-chr13:30496884..30498942,2	MCF-7	breast:
4	chr13:30418186..30420449-chr13:30497353..30498942,2	MCF-7	breast:
5	chr13:30419221..30420167-chr13:30498544..30499140,3	MCF-7	breast:
6	chr13:30498030..30500017-chr13:30505243..30508039,2	K562	blood:
7	chr13:30498435..30501654-chr13:30681390..30683059,3	MCF-7	breast:
8	chr13:30482306..30489173-chr13:30491895..30500288,16	MCF-7	breast:
9	chr13:30474561..30476361-chr13:30497151..30499609,2	MCF-7	breast:
10	chr13:30421079..30421752-chr13:30498389..30499250,2	MCF-7	breast:
11	chr13:30492675..30494704-chr13:30496918..30499167,3	MCF-7	breast:
12	chr13:30498140..30499691-chr13:30608886..30611160,2	MCF-7	breast:
13	chr13:30420595..30432624-chr13:30489594..30503683,39	MCF-7	breast:
14	chr13:30414305..30417482-chr13:30498003..30500774,5	MCF-7	breast:
15	chr13:30391873..30393700-chr13:30497127..30499566,2	MCF-7	breast:
16	chr13:30419316..30420699-chr13:30498135..30498967,5	MCF-7	breast:
17	chr13:30420962..30426189-chr13:30489163..30500098,34	MCF-7	breast:
18	chr13:30498368..30498950-chr13:30686816..30687387,2	MCF-7	breast:
19	chr13:30494996..30500904-chr13:30681667..30688775,12	MCF-7	breast:
20	chr13:30424498..30425006-chr13:30498151..30498709,2	MCF-7	breast:
21	chr13:30497791..30500360-chr13:30674614..30679278,4	MCF-7	breast:
22	chr13:30475291..30479868-chr13:30496674..30499474,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224511	Chromatin interaction
ENSG00000122042	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17503526	0.91[EUR][1000 genomes]
rs17503533	0.91[EUR][1000 genomes]
rs17587770	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17587798	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17588071	0.91[EUR][1000 genomes]
rs17588196	0.87[EUR][1000 genomes]
rs17588286	0.87[EUR][1000 genomes]
rs17588314	0.87[EUR][1000 genomes]
rs2094054	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55708888	0.89[EUR][1000 genomes]
rs55734322	0.87[EUR][1000 genomes]
rs55772458	0.89[EUR][1000 genomes]
rs55837941	0.89[EUR][1000 genomes]
rs55913576	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55922204	0.89[EUR][1000 genomes]
rs56077878	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56249225	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56275431	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56409314	0.87[EUR][1000 genomes]
rs73157199	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157201	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157202	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159303	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159304	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159310	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159320	0.91[EUR][1000 genomes]
rs73159321	0.91[EUR][1000 genomes]
rs73159339	0.87[EUR][1000 genomes]
rs73159340	0.87[EUR][1000 genomes]
rs73159349	0.81[EUR][1000 genomes]
rs73159358	0.81[EUR][1000 genomes]
rs73159360	0.81[EUR][1000 genomes]
rs73159362	0.81[EUR][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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30491600-30501000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr13:30492400-30500600	Enhancers	HMEC	breast
3	chr13:30494200-30501400	Enhancers	Stomach Mucosa	stomach
4	chr13:30495600-30500400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:30496000-30500000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:30496000-30500200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:30496400-30499600	Enhancers	Pancreas	Pancrea
8	chr13:30496400-30499800	Enhancers	Right Ventricle	heart
9	chr13:30496400-30500000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:30496400-30500200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:30496400-30500200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:30496400-30500200	Enhancers	Fetal Muscle Leg	muscle
13	chr13:30496400-30500200	Enhancers	NHLF	lung
14	chr13:30496400-30500400	Enhancers	Placenta	Placenta
15	chr13:30496400-30500600	Enhancers	NHDF-Ad	bronchial
16	chr13:30496600-30499000	Flanking Active TSS	Osteobl	bone
17	chr13:30496600-30499800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:30496600-30500000	Enhancers	Fetal Stomach	stomach
19	chr13:30496600-30500800	Enhancers	Liver	Liver
20	chr13:30496800-30499200	Enhancers	Thymus	Thymus
21	chr13:30496800-30499400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:30496800-30499600	Enhancers	Fetal Muscle Trunk	muscle
23	chr13:30496800-30499600	Enhancers	Left Ventricle	heart
24	chr13:30496800-30500200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:30496800-30500400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr13:30496800-30500800	Enhancers	Brain Hippocampus Middle	brain
27	chr13:30496800-30501000	Enhancers	Fetal Intestine Small	intestine
28	chr13:30497000-30498800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:30497000-30498800	Enhancers	Adipose Nuclei	Adipose
30	chr13:30497000-30500000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:30497000-30500000	Enhancers	Fetal Intestine Large	intestine
32	chr13:30497000-30500000	Enhancers	Fetal Thymus	thymus
33	chr13:30497000-30500000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr13:30497000-30500800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr13:30497000-30501000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr13:30497200-30498800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
37	chr13:30497200-30499000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr13:30497200-30500000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr13:30497200-30500600	Enhancers	Primary T cells from cord blood	blood
40	chr13:30497200-30500600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr13:30497200-30500800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr13:30497200-30500800	Enhancers	Fetal Lung	lung
43	chr13:30497400-30498800	Flanking Active TSS	Hela-S3	cervix
44	chr13:30497400-30499600	Enhancers	Esophagus	oesophagus
45	chr13:30497400-30500400	Enhancers	Fetal Heart	heart
46	chr13:30497400-30500600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:30497400-30500800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr13:30497600-30498800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr13:30497600-30498800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr13:30497600-30498800	Enhancers	GM12878-XiMat	blood

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