Variant report

Variant	rs73228328
Chromosome Location	chr7:96285446-96285447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10226466	0.95[EUR][1000 genomes]
rs10234669	0.87[EUR][1000 genomes]
rs10236162	0.91[EUR][1000 genomes]
rs10242066	1.00[EUR][1000 genomes]
rs10246774	0.95[EUR][1000 genomes]
rs10249910	0.91[EUR][1000 genomes]
rs10252396	0.95[EUR][1000 genomes]
rs10259875	0.95[EUR][1000 genomes]
rs10270175	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10270486	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10273237	0.95[EUR][1000 genomes]
rs10276660	0.95[EUR][1000 genomes]
rs10278521	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1581538	1.00[EUR][1000 genomes]
rs1608739	1.00[EUR][1000 genomes]
rs17167680	0.91[EUR][1000 genomes]
rs17167699	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17413240	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17495340	0.91[EUR][1000 genomes]
rs1917482	1.00[EUR][1000 genomes]
rs2140741	1.00[EUR][1000 genomes]
rs2272	0.95[EUR][1000 genomes]
rs3942589	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55902035	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67368115	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67548673	0.95[EUR][1000 genomes]
rs67658953	1.00[EUR][1000 genomes]
rs73228327	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73228329	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73228347	0.95[EUR][1000 genomes]
rs73228355	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73228356	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73228360	0.95[EUR][1000 genomes]
rs73228364	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7341440	0.95[EUR][1000 genomes]
rs952005	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[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	nsv888756	chr7:95937098-96343665	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv831064	chr7:96107530-96289042	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv532174	chr7:96221237-96375826	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv831065	chr7:96275832-96436031	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96249800-96292800	Weak transcription	Left Ventricle	heart
2	chr7:96250200-96317400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:96258200-96299800	Weak transcription	Ovary	ovary
4	chr7:96266000-96301200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:96266600-96317000	Weak transcription	Right Ventricle	heart
6	chr7:96267600-96301400	Weak transcription	Aorta	Aorta
7	chr7:96272200-96301400	Weak transcription	Spleen	Spleen
8	chr7:96273600-96287000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:96278400-96285600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:96278400-96301400	Weak transcription	Psoas Muscle	Psoas
11	chr7:96281000-96286800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:96281200-96287000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:96282200-96295200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:96283200-96293600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:96284200-96288800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:96284400-96320000	Weak transcription	Pancreas	Pancrea
17	chr7:96284400-96331200	Weak transcription	Lung	lung
18	chr7:96284600-96285600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:96284600-96286400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:96284600-96287400	Weak transcription	Esophagus	oesophagus
21	chr7:96284600-96300200	Weak transcription	Fetal Stomach	stomach
22	chr7:96285200-96286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:96285200-96286400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:96285200-96289000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:96285400-96285600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr7:96285400-96285800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:96285400-96288200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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