Variant report

Variant	rs73680382
Chromosome Location	chr7:14940057-14940058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10085625	1.00[EUR][1000 genomes]
rs10238323	1.00[EUR][1000 genomes]
rs10251472	1.00[EUR][1000 genomes]
rs1404622	1.00[EUR][1000 genomes]
rs1614700	1.00[EUR][1000 genomes]
rs1723242	1.00[EUR][1000 genomes]
rs56905045	1.00[EUR][1000 genomes]
rs60540005	1.00[EUR][1000 genomes]
rs61058262	1.00[EUR][1000 genomes]
rs61147906	1.00[EUR][1000 genomes]
rs6966072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276014	1.00[EUR][1000 genomes]
rs73280239	1.00[EUR][1000 genomes]
rs73680304	1.00[EUR][1000 genomes]
rs73680340	1.00[EUR][1000 genomes]
rs73680357	1.00[EUR][1000 genomes]
rs73680371	1.00[EUR][1000 genomes]
rs73680372	1.00[EUR][1000 genomes]
rs73680375	1.00[EUR][1000 genomes]
rs73680376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680379	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73682548	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031041	chr7:14624127-14999201	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538741	chr7:14624127-14999201	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv887714	chr7:14888418-14941576	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	esv2758104	chr7:14896877-15299786	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759512	chr7:14896877-15299786	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1027520	chr7:14905287-15035993	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv538742	chr7:14905287-15035993	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1032569	chr7:14905287-15597069	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv887716	chr7:14933955-15021223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14929000-14940800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:14929200-14940800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:14935200-14940600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:14938800-14942000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:14939200-14941400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:14939200-14943800	Active TSS	Brain Anterior Caudate	brain
7	chr7:14939400-14940200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:14939400-14940600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:14939400-14941600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:14939400-14941800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:14939400-14942000	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:14939600-14940200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:14939600-14940200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:14939600-14940200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:14939600-14940200	Enhancers	Osteobl	bone
16	chr7:14939600-14943600	Active TSS	Brain Angular Gyrus	brain
17	chr7:14939600-14943800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:14939800-14940200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:14939800-14940200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:14939800-14942000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:14940000-14940200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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