Variant report

Variant	rs73730319
Chromosome Location	chr7:137025536-137025537
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:12)

rs_ID	r²[population]
rs320717	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320724	0.83[AFR][1000 genomes]
rs56820348	1.00[AMR][1000 genomes]
rs61018676	1.00[AMR][1000 genomes]
rs61531655	1.00[AMR][1000 genomes]
rs73728685	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73728687	1.00[AMR][1000 genomes]
rs73728688	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73728690	1.00[AMR][1000 genomes]
rs73728699	1.00[AMR][1000 genomes]
rs73730606	1.00[AMR][1000 genomes]
rs73730607	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv889240	chr7:136972027-137038092	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv889241	chr7:136976713-137038092	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
6	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv889242	chr7:137005808-137081223	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137016600-137026800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:137016600-137027000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:137016600-137027000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:137016600-137027800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:137020200-137025800	Enhancers	Brain Substantia Nigra	brain
6	chr7:137021200-137026200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:137021200-137026800	Weak transcription	NH-A	brain
8	chr7:137021200-137027200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:137021200-137027200	Weak transcription	HMEC	breast
10	chr7:137021400-137027600	Weak transcription	Esophagus	oesophagus
11	chr7:137021600-137026200	Weak transcription	Fetal Stomach	stomach
12	chr7:137022200-137026400	Weak transcription	Fetal Kidney	kidney
13	chr7:137022800-137026400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:137023200-137026800	Weak transcription	Fetal Heart	heart
15	chr7:137024400-137029000	Active TSS	Fetal Brain Female	brain
16	chr7:137024600-137026800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:137024600-137028600	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr7:137025000-137025600	Active TSS	Brain Angular Gyrus	brain
19	chr7:137025200-137025600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:137025200-137025600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:137025200-137025600	Enhancers	Colon Smooth Muscle	Colon
22	chr7:137025200-137025800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:137025200-137025800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:137025200-137025800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:137025200-137027600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:137025200-137028600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr7:137025400-137025600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:137025400-137025600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:137025400-137025600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:137025400-137025600	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr7:137025400-137025600	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr7:137025400-137025600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:137025400-137025600	Enhancers	Fetal Lung	lung
34	chr7:137025400-137025800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:137025400-137025800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr7:137025400-137025800	Enhancers	Fetal Brain Male	brain
37	chr7:137025400-137026600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:137025400-137027000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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