Variant report

Variant	rs939416
Chromosome Location	chr3:46705687-46705688
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46703608..46706840-chr3:46708905..46711367,3	K562	blood:
2	chr3:46701966..46703684-chr3:46705355..46706952,2	MCF-7	breast:
3	chr3:46703743..46706705-chr3:46719567..46721829,2	K562	blood:
4	chr3:46529944..46530794-chr3:46705110..46706015,2	K562	blood:
5	chr3:46670110..46673240-chr3:46702336..46706371,4	MCF-7	breast:
6	chr3:46698830..46701329-chr3:46704770..46706744,2	K562	blood:
7	chr3:46699829..46702382-chr3:46705244..46707445,2	K562	blood:
8	chr3:46704379..46706248-chr3:46709727..46711417,3	K562	blood:

No data

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1473384	1.00[EUR][1000 genomes]
rs1473385	1.00[EUR][1000 genomes]
rs1563432	1.00[EUR][1000 genomes]
rs2385863	1.00[EUR][1000 genomes]
rs34147581	1.00[EUR][1000 genomes]
rs35366910	1.00[EUR][1000 genomes]
rs3930202	1.00[EUR][1000 genomes]
rs4519738	1.00[EUR][1000 genomes]
rs4682846	1.00[EUR][1000 genomes]
rs4682847	1.00[EUR][1000 genomes]
rs4683261	1.00[EUR][1000 genomes]
rs4683262	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683265	1.00[EUR][1000 genomes]
rs4683303	1.00[EUR][1000 genomes]
rs58784389	0.83[AMR][1000 genomes]
rs6442014	1.00[EUR][1000 genomes]
rs6442015	1.00[EUR][1000 genomes]
rs6808052	1.00[EUR][1000 genomes]
rs7641494	1.00[EUR][1000 genomes]
rs7650245	1.00[EUR][1000 genomes]
rs936173	1.00[EUR][1000 genomes]
rs936182	1.00[EUR][1000 genomes]
rs939409	1.00[EUR][1000 genomes]
rs939410	1.00[EUR][1000 genomes]
rs939411	1.00[EUR][1000 genomes]
rs939412	1.00[EUR][1000 genomes]
rs939413	1.00[EUR][1000 genomes]
rs939415	1.00[EUR][1000 genomes]
rs939417	1.00[EUR][1000 genomes]
rs939420	1.00[EUR][1000 genomes]
rs9819344	1.00[EUR][1000 genomes]
rs9836801	1.00[EUR][1000 genomes]
rs9850151	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv876739	chr3:46656980-46744966	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv876740	chr3:46656980-46748453	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv876741	chr3:46663372-46763839	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv516623	chr3:46680063-46852679	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	esv1804680	chr3:46704348-46869911	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv876742	chr3:46705369-46763839	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46698000-46707600	Weak transcription	Gastric	stomach
2	chr3:46700400-46705800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr3:46700400-46705800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:46700800-46710400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr3:46701600-46706800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr3:46701600-46709200	Enhancers	Right Ventricle	heart
7	chr3:46702400-46706000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr3:46702800-46707200	Weak transcription	Pancreas	Pancrea
9	chr3:46702800-46732400	Weak transcription	Psoas Muscle	Psoas
10	chr3:46703000-46705800	Enhancers	Fetal Muscle Leg	muscle
11	chr3:46703000-46711600	Weak transcription	Esophagus	oesophagus
12	chr3:46703000-46731600	Weak transcription	Hela-S3	cervix
13	chr3:46703400-46706000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:46703400-46706000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:46703400-46707200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr3:46703400-46709400	Enhancers	Left Ventricle	heart
17	chr3:46703600-46706200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:46703800-46706000	Enhancers	Brain Angular Gyrus	brain
19	chr3:46703800-46706200	Enhancers	Fetal Brain Male	brain
20	chr3:46703800-46709200	Enhancers	Right Atrium	heart
21	chr3:46704000-46705800	Enhancers	Brain Anterior Caudate	brain
22	chr3:46704000-46706000	Enhancers	Brain Germinal Matrix	brain
23	chr3:46704000-46706000	Enhancers	Fetal Lung	lung
24	chr3:46704200-46706200	Enhancers	Spleen	Spleen
25	chr3:46704200-46708800	Enhancers	Fetal Heart	heart
26	chr3:46704200-46712400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr3:46704400-46706200	Enhancers	Fetal Stomach	stomach
28	chr3:46704400-46706400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:46704800-46706400	Enhancers	Fetal Kidney	kidney
30	chr3:46705000-46711400	Weak transcription	HMEC	breast
31	chr3:46705200-46706000	Enhancers	Fetal Intestine Large	intestine
32	chr3:46705200-46706200	Weak transcription	Liver	Liver
33	chr3:46705200-46708600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:46705400-46706200	Enhancers	Lung	lung
35	chr3:46705400-46706400	Enhancers	HSMMtube	muscle
36	chr3:46705400-46707200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:46705400-46707400	Weak transcription	Brain Substantia Nigra	brain
38	chr3:46705400-46707600	Weak transcription	Fetal Intestine Small	intestine
39	chr3:46705400-46711800	Weak transcription	Adipose Nuclei	Adipose
40	chr3:46705400-46711800	Weak transcription	Placenta	Placenta
41	chr3:46705400-46712400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:46705400-46713400	Weak transcription	Colonic Mucosa	Colon
43	chr3:46705400-46715000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:46705400-46732600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr3:46705400-46734400	Weak transcription	Ovary	ovary
46	chr3:46705600-46705800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:46705600-46705800	Active TSS	HSMM	muscle
48	chr3:46705600-46706000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
49	chr3:46705600-46706400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr3:46705600-46710800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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