Variant report

Variant	rs73701133
Chromosome Location	chr7:55842470-55842471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12535660	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs35629687	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59946150	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61187951	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73701154	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv427782	chr7:55703073-56010314	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	46 gene(s)	inside rSNPs	diseases
7	nsv888063	chr7:55728476-55899496	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv469612	chr7:55752394-55876163	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv482609	chr7:55752394-55876163	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
12	nsv970835	chr7:55816398-55872502	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55823400-55842600	Weak transcription	Pancreas	Pancrea
2	chr7:55824400-55843400	Weak transcription	Left Ventricle	heart
3	chr7:55828200-55844400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:55829400-55843200	Weak transcription	Right Ventricle	heart
5	chr7:55830200-55842600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:55831600-55842600	Weak transcription	Fetal Intestine Small	intestine
7	chr7:55831600-55848000	Weak transcription	Gastric	stomach
8	chr7:55832200-55842600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:55835600-55842600	Weak transcription	Esophagus	oesophagus
10	chr7:55838200-55842600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:55839800-55842600	Weak transcription	Lung	lung
12	chr7:55840200-55842600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:55841200-55842800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:55841200-55843000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:55841200-55843400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:55841400-55843400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:55841800-55843400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:55842000-55842600	Weak transcription	Fetal Stomach	stomach
19	chr7:55842000-55842800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:55842200-55842600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr7:55842400-55842600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:55842400-55842600	Enhancers	HMEC	breast
23	chr7:55842400-55842800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr7:55842400-55842800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr7:55842400-55842800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:55842400-55842800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr7:55842400-55842800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:55842400-55842800	Active TSS	Brain Angular Gyrus	brain
29	chr7:55842400-55842800	Active TSS	Brain Cingulate Gyrus	brain
30	chr7:55842400-55842800	Active TSS	Brain Hippocampus Middle	brain
31	chr7:55842400-55842800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr7:55842400-55842800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:55842400-55842800	Bivalent Enhancer	Placenta	Placenta
34	chr7:55842400-55842800	Enhancers	HepG2	liver
35	chr7:55842400-55842800	Flanking Active TSS	NHEK	skin

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