Variant report

Variant	rs73728685
Chromosome Location	chr7:137028833-137028834
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr7:137027273-137029169	SK-N-SH	brain:	n/a	chr7:137028321-137028328 chr7:137028320-137028330 chr7:137027839-137027853 chr7:137028320-137028329 chr7:137028319-137028331 chr7:137028320-137028330 chr7:137028322-137028333 chr7:137028321-137028330
2	E2F4	chr7:137028196-137028917	MCF10A-Er-Src	breast:	n/a	chr7:137028405-137028420

Variant related genes	Relation type
PTN	TF binding region

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs320717	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320724	0.81[AFR][1000 genomes]
rs56820348	1.00[AMR][1000 genomes]
rs61018676	1.00[AMR][1000 genomes]
rs61531655	1.00[AMR][1000 genomes]
rs73728687	1.00[AMR][1000 genomes]
rs73728688	1.00[AMR][1000 genomes]
rs73728690	1.00[AMR][1000 genomes]
rs73728699	1.00[AMR][1000 genomes]
rs73730319	0.84[AFR][1000 genomes];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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137024400-137029000	Active TSS	Fetal Brain Female	brain
2	chr7:137026400-137029000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:137026400-137029000	Active TSS	Brain Cingulate Gyrus	brain
4	chr7:137026800-137029000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:137026800-137029000	Active TSS	Brain Anterior Caudate	brain
6	chr7:137026800-137029000	Active TSS	Brain Substantia Nigra	brain
7	chr7:137026800-137029000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr7:137027200-137029200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:137027600-137029000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:137028000-137029000	Active TSS	Rectal Smooth Muscle	rectum
11	chr7:137028400-137029000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
12	chr7:137028600-137029000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:137028600-137029000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:137028600-137029000	Enhancers	Liver	Liver
15	chr7:137028600-137029000	Enhancers	Fetal Heart	heart
16	chr7:137028600-137029000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr7:137028600-137029200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:137028600-137029200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
19	chr7:137028600-137029200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr7:137028600-137029800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:137028600-137030400	Weak transcription	Gastric	stomach
22	chr7:137028600-137030600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:137028800-137029000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:137028800-137029000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr7:137028800-137029000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:137028800-137029000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:137028800-137029000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:137028800-137029000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
29	chr7:137028800-137029000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr7:137028800-137029000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr7:137028800-137029000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:137028800-137029000	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr7:137028800-137029000	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr7:137028800-137029000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr7:137028800-137029000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:137028800-137029000	Enhancers	Colon Smooth Muscle	Colon
37	chr7:137028800-137029000	Enhancers	Fetal Brain Male	brain
38	chr7:137028800-137029000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
39	chr7:137028800-137029000	Enhancers	Stomach Smooth Muscle	stomach
40	chr7:137028800-137029200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr7:137028800-137029200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr7:137028800-137029200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:137028800-137029200	Enhancers	Fetal Kidney	kidney
44	chr7:137028800-137029200	Enhancers	Fetal Stomach	stomach

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