Variant report

Variant	rs73190450
Chromosome Location	chr7:70702540-70702541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11974311	0.95[EUR][1000 genomes]
rs11978503	0.95[EUR][1000 genomes]
rs17593748	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55724524	0.95[EUR][1000 genomes]
rs56344878	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58034721	0.84[EUR][1000 genomes]
rs60603252	0.95[EUR][1000 genomes]
rs73173986	0.81[EUR][1000 genomes]
rs73173991	0.81[EUR][1000 genomes]
rs73173993	0.81[EUR][1000 genomes]
rs73190455	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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv888343	chr7:70641761-70743033	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70698400-70703400	Weak transcription	Right Ventricle	heart
2	chr7:70700400-70704800	Enhancers	Ovary	ovary
3	chr7:70700600-70702800	Enhancers	Left Ventricle	heart
4	chr7:70700600-70705400	Enhancers	Fetal Muscle Leg	muscle
5	chr7:70700600-70705600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr7:70700800-70704400	Enhancers	Fetal Muscle Trunk	muscle
7	chr7:70700800-70704800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:70701200-70703800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:70701200-70704000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:70701200-70704600	Enhancers	Fetal Stomach	stomach
11	chr7:70701200-70705000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:70701200-70705200	Enhancers	Rectal Smooth Muscle	rectum
13	chr7:70701400-70703800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:70701400-70704800	Enhancers	Fetal Heart	heart
15	chr7:70701400-70706800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:70701600-70704800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:70701600-70705200	Enhancers	Fetal Lung	lung
18	chr7:70701600-70720400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:70701800-70702800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:70701800-70703000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:70701800-70705200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:70702000-70703200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:70702000-70703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:70702200-70702600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:70702200-70702600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:70702200-70703000	Weak transcription	Brain Angular Gyrus	brain
27	chr7:70702200-70703200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:70702200-70703200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:70702200-70703200	Weak transcription	Brain Germinal Matrix	brain
30	chr7:70702200-70703800	Weak transcription	Pancreas	Pancrea
31	chr7:70702200-70704800	Weak transcription	Brain Anterior Caudate	brain
32	chr7:70702200-70705200	Enhancers	Colon Smooth Muscle	Colon
33	chr7:70702200-70705600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr7:70702200-70713600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:70702200-70719600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:70702400-70702800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:70702400-70702800	Weak transcription	Fetal Brain Male	brain
38	chr7:70702400-70703600	Weak transcription	Psoas Muscle	Psoas
39	chr7:70702400-70705400	Enhancers	HSMMtube	muscle

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