Variant report

Variant	rs72942760
Chromosome Location	chr3:50671558-50671559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50658169..50660186-chr3:50671108..50673991,2	MCF-7	breast:
2	chr3:50668689..50672125-chr3:50673046..50675636,3	K562	blood:
3	chr3:50665308..50667581-chr3:50670455..50672220,2	K562	blood:
4	chr3:50653782..50659891-chr3:50667242..50673193,6	K562	blood:
5	chr3:50653782..50658590-chr3:50669577..50673193,4	K562	blood:
6	chr3:50671203..50673745-chr3:50674987..50677707,3	K562	blood:

Variant related genes	Relation type
ENSG00000114738	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs3792323	0.82[AFR][1000 genomes]
rs58124375	1.00[AMR][1000 genomes]
rs58407586	1.00[AMR][1000 genomes]
rs59336516	1.00[AMR][1000 genomes]
rs59896933	1.00[AMR][1000 genomes]
rs60204288	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61638172	1.00[AMR][1000 genomes]
rs72934811	1.00[AMR][1000 genomes]
rs72935279	1.00[AMR][1000 genomes]
rs72936964	1.00[AMR][1000 genomes]
rs72936978	1.00[AMR][1000 genomes]
rs72937243	1.00[AMR][1000 genomes]
rs72937269	1.00[AMR][1000 genomes]
rs72938724	1.00[AMR][1000 genomes]
rs72938734	1.00[AMR][1000 genomes]
rs72938735	1.00[AMR][1000 genomes]
rs72938738	1.00[AMR][1000 genomes]
rs72938740	1.00[AMR][1000 genomes]
rs72938750	1.00[AMR][1000 genomes]
rs72940706	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50655400-50677800	Weak transcription	Aorta	Aorta
2	chr3:50655600-50681200	Weak transcription	Fetal Brain Female	brain
3	chr3:50656000-50675600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:50656000-50677800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:50657600-50678200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:50660200-50671600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:50660200-50677000	Weak transcription	Liver	Liver
8	chr3:50661400-50671600	Enhancers	Left Ventricle	heart
9	chr3:50661600-50674400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:50661600-50675800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:50661600-50688200	Weak transcription	Small Intestine	intestine
12	chr3:50662400-50672000	Enhancers	Primary hematopoietic stem cells	blood
13	chr3:50662400-50678200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:50662600-50675800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr3:50663200-50677600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:50663400-50690000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:50664200-50672600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:50664400-50672800	Genic enhancers	Dnd41	blood
19	chr3:50665200-50674400	Weak transcription	Colonic Mucosa	Colon
20	chr3:50665400-50679000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:50665400-50686800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:50665600-50673800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:50665600-50675600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:50665600-50686200	Weak transcription	Stomach Mucosa	stomach
25	chr3:50665800-50672200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:50665800-50674000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:50665800-50675400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:50665800-50675600	Weak transcription	Brain Substantia Nigra	brain
29	chr3:50665800-50675800	Weak transcription	NHLF	lung
30	chr3:50666000-50671800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:50666200-50673600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:50666600-50675400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:50667000-50674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:50667200-50673800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:50667200-50680400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:50667600-50671800	Enhancers	Fetal Heart	heart
37	chr3:50668000-50671800	Enhancers	Primary B cells from cord blood	blood
38	chr3:50668000-50673400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:50668000-50673800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr3:50668200-50673600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr3:50668400-50672200	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr3:50668600-50671800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr3:50668600-50673600	Weak transcription	HSMM	muscle
44	chr3:50668600-50673800	Weak transcription	Fetal Kidney	kidney
45	chr3:50668600-50678800	Weak transcription	Pancreas	Pancrea
46	chr3:50668600-50679200	Weak transcription	HepG2	liver
47	chr3:50669000-50672200	Weak transcription	Fetal Intestine Large	intestine
48	chr3:50669000-50672200	Weak transcription	Fetal Stomach	stomach
49	chr3:50669000-50675800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:50669000-50684800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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