Variant report

Variant	rs72812942
Chromosome Location	chr17:15138288-15138289
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15137610..15139946-chr17:15141158..15143001,2	K562	blood:
2	chr17:15136279..15139098-chr17:15139900..15142185,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238806	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13027	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951239	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215236	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3744333	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785654	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59723054	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502439	0.93[EUR][1000 genomes]
rs7215851	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221491	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812936	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812947	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73977960	0.92[EUR][1000 genomes]
rs73977961	0.92[EUR][1000 genomes]
rs740649	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9889622	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9899379	0.87[EUR][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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15131200-15141600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:15131600-15139600	Weak transcription	Liver	Liver
3	chr17:15131600-15145600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr17:15131800-15139800	Strong transcription	Fetal Stomach	stomach
5	chr17:15132200-15139400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:15132200-15144400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:15132200-15158800	Weak transcription	Hela-S3	cervix
8	chr17:15132400-15143200	Strong transcription	HSMMtube	muscle
9	chr17:15132600-15138400	Strong transcription	Aorta	Aorta
10	chr17:15132600-15140000	Genic enhancers	Left Ventricle	heart
11	chr17:15132600-15142800	Weak transcription	Esophagus	oesophagus
12	chr17:15132800-15139600	Strong transcription	Fetal Lung	lung
13	chr17:15134000-15140400	Weak transcription	NH-A	brain
14	chr17:15134400-15140600	Genic enhancers	Brain Cingulate Gyrus	brain
15	chr17:15134400-15151000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr17:15134600-15139000	Genic enhancers	Brain Anterior Caudate	brain
17	chr17:15134600-15140200	Genic enhancers	Brain Substantia Nigra	brain
18	chr17:15134600-15143200	Strong transcription	HSMM	muscle
19	chr17:15134800-15139000	Enhancers	K562	blood
20	chr17:15134800-15140200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:15134800-15140400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:15135200-15144800	Genic enhancers	Colon Smooth Muscle	Colon
23	chr17:15135400-15140600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr17:15135600-15138800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
25	chr17:15135600-15139000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
26	chr17:15135600-15140800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:15135600-15142400	Genic enhancers	NHDF-Ad	bronchial
28	chr17:15135600-15143400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:15135800-15139000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
30	chr17:15135800-15140000	Genic enhancers	Brain Hippocampus Middle	brain
31	chr17:15135800-15141800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:15135800-15151200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:15135800-15160200	Weak transcription	Pancreas	Pancrea
34	chr17:15136000-15138400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr17:15136000-15141400	Weak transcription	Fetal Brain Male	brain
36	chr17:15136400-15139400	Weak transcription	Fetal Thymus	thymus
37	chr17:15136800-15138400	Genic enhancers	Fetal Intestine Large	intestine
38	chr17:15136800-15139000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr17:15136800-15139000	Enhancers	Brain Angular Gyrus	brain
40	chr17:15136800-15141600	Strong transcription	A549	lung
41	chr17:15137000-15139400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr17:15137000-15140000	Weak transcription	HepG2	liver
43	chr17:15137000-15140200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:15137000-15151200	Weak transcription	Fetal Intestine Small	intestine
45	chr17:15137200-15139600	Weak transcription	HUVEC	blood vessel
46	chr17:15137200-15139800	Strong transcription	NHLF	lung
47	chr17:15137200-15158000	Weak transcription	Stomach Mucosa	stomach
48	chr17:15137400-15138400	Genic enhancers	Placenta	Placenta
49	chr17:15137400-15141600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr17:15137400-15142400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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