Variant report

Variant	rs57243314
Chromosome Location	chr7:53287330-53287331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10251336	0.82[EUR][1000 genomes]
rs10265085	0.80[EUR][1000 genomes]
rs10265201	0.82[EUR][1000 genomes]
rs1113703	0.82[EUR][1000 genomes]
rs1113704	0.82[EUR][1000 genomes]
rs1113705	0.82[EUR][1000 genomes]
rs11765624	0.82[EUR][1000 genomes]
rs11773022	0.82[EUR][1000 genomes]
rs1525560	0.82[EUR][1000 genomes]
rs2068453	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2068595	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4301402	0.82[EUR][1000 genomes]
rs4492331	0.82[EUR][1000 genomes]
rs4624978	0.83[EUR][1000 genomes]
rs4947794	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6593064	0.82[EUR][1000 genomes]
rs6965095	0.83[EUR][1000 genomes]
rs6970183	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017676	chr7:52932139-53350524	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv888034	chr7:53026365-53611898	Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv3516146	chr7:53099945-53356180	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3516147	chr7:53099945-53356180	Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1017269	chr7:53142462-53605487	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv538846	chr7:53142462-53605487	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv831002	chr7:53153000-53349016	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv888039	chr7:53232207-53611898	Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1019093	chr7:53251834-53398932	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1024141	chr7:53261344-53573135	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv607010	chr7:53262051-53570145	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1025830	chr7:53270414-53311777	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
13	nsv538847	chr7:53270414-53311777	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
14	nsv1023585	chr7:53285534-53322233	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
15	esv3364623	chr7:53287113-53287484	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53286400-53287400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:53286400-53287400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:53286400-53287400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr7:53286400-53287400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:53286400-53287400	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr7:53286400-53287400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:53286400-53287400	Active TSS	Aorta	Aorta
8	chr7:53286400-53287400	Active TSS	Brain Cingulate Gyrus	brain
9	chr7:53286400-53287400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:53286400-53287400	Active TSS	Colon Smooth Muscle	Colon
11	chr7:53286400-53287400	Active TSS	Fetal Kidney	kidney
12	chr7:53286400-53287400	Active TSS	Ovary	ovary
13	chr7:53286400-53287400	Active TSS	Rectal Smooth Muscle	rectum
14	chr7:53286400-53287400	Active TSS	Right Atrium	heart
15	chr7:53286400-53287400	Active TSS	Right Ventricle	heart
16	chr7:53286400-53287600	Active TSS	HUVEC	blood vessel
17	chr7:53286600-53287400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:53286600-53287400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:53286600-53287400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:53286600-53287400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr7:53286600-53287400	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chr7:53286600-53287600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr7:53286800-53287400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:53286800-53287400	Active TSS	Brain Hippocampus Middle	brain
25	chr7:53286800-53287400	Enhancers	Placenta	Placenta
26	chr7:53287000-53287400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr7:53287000-53287400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
28	chr7:53287200-53287400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:53287200-53287400	Enhancers	Brain Angular Gyrus	brain
30	chr7:53287200-53287400	Enhancers	Brain Anterior Caudate	brain
31	chr7:53287200-53287400	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr7:53287200-53287400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr7:53287200-53287400	Active TSS	Fetal Stomach	stomach
34	chr7:53287200-53287400	Active TSS	A549	lung

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