Variant report

Variant	rs230913
Chromosome Location	chr17:15150578-15150579
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	chr17:15149897..15152221-chr17:15153886..15156652,2	K562	blood:

Variant related genes	Relation type
ENSG00000265110	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13422	0.81[AMR][1000 genomes]
rs179520	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1860295	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs192046	0.80[EUR][1000 genomes]
rs230914	0.82[ASN][1000 genomes]
rs230934	0.80[EUR][1000 genomes]
rs230935	0.80[EUR][1000 genomes]
rs230936	0.80[EUR][1000 genomes]
rs230937	0.80[EUR][1000 genomes]
rs230939	0.83[AMR][1000 genomes]
rs230941	0.83[AMR][1000 genomes]
rs230944	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs230946	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs230947	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs230949	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs230950	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs231020	0.83[ASN][1000 genomes]
rs231025	0.84[ASN][1000 genomes]
rs231028	0.83[ASN][1000 genomes]
rs231030	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2531951	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15132200-15158800	Weak transcription	Hela-S3	cervix
2	chr17:15134400-15151000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr17:15135800-15151200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:15135800-15160200	Weak transcription	Pancreas	Pancrea
5	chr17:15137000-15151200	Weak transcription	Fetal Intestine Small	intestine
6	chr17:15137200-15158000	Weak transcription	Stomach Mucosa	stomach
7	chr17:15139000-15152800	Weak transcription	Colonic Mucosa	Colon
8	chr17:15139800-15151200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:15139800-15160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:15140200-15151000	Weak transcription	HMEC	breast
11	chr17:15142600-15154000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:15142600-15159000	Weak transcription	Fetal Kidney	kidney
13	chr17:15142600-15159000	Weak transcription	NH-A	brain
14	chr17:15142800-15159200	Weak transcription	Fetal Brain Male	brain
15	chr17:15143000-15150800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr17:15143000-15150800	Weak transcription	NHLF	lung
17	chr17:15143000-15151000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:15143000-15151200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr17:15143000-15151200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr17:15143000-15151200	Weak transcription	Osteobl	bone
21	chr17:15143000-15151400	Weak transcription	HUVEC	blood vessel
22	chr17:15143000-15152400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:15143000-15152400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr17:15143000-15154000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr17:15143000-15156800	Weak transcription	Gastric	stomach
26	chr17:15143200-15151000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:15143200-15151000	Weak transcription	Fetal Intestine Large	intestine
28	chr17:15144000-15150600	Weak transcription	Placenta	Placenta
29	chr17:15144200-15152600	Weak transcription	Lung	lung
30	chr17:15144400-15150800	Weak transcription	HSMMtube	muscle
31	chr17:15146800-15160400	Strong transcription	A549	lung
32	chr17:15147200-15151200	Enhancers	Fetal Heart	heart
33	chr17:15147400-15150600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr17:15147400-15153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:15148000-15153200	Genic enhancers	Fetal Muscle Leg	muscle
36	chr17:15148000-15159000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:15148200-15159000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr17:15148200-15160400	Strong transcription	Fetal Stomach	stomach
39	chr17:15148400-15150800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:15148400-15151000	Genic enhancers	NHDF-Ad	bronchial
41	chr17:15148400-15158000	Genic enhancers	Left Ventricle	heart
42	chr17:15148600-15150600	Weak transcription	HepG2	liver
43	chr17:15148800-15150800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:15148800-15150800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr17:15148800-15150800	Weak transcription	Right Atrium	heart
46	chr17:15148800-15150800	Weak transcription	Right Ventricle	heart
47	chr17:15148800-15151200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:15148800-15151200	Weak transcription	Small Intestine	intestine
49	chr17:15148800-15152400	Weak transcription	Esophagus	oesophagus
50	chr17:15148800-15153400	Weak transcription	Aorta	Aorta

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