Variant report

Variant	rs4720608
Chromosome Location	chr7:47729511-47729512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47614357..47617342-chr7:47728067..47729946,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10224672	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226633	0.95[ASN][1000 genomes]
rs10226887	0.98[ASN][1000 genomes]
rs10227002	0.99[ASN][1000 genomes]
rs10227130	1.00[ASN][1000 genomes]
rs10234095	0.90[ASN][1000 genomes]
rs10241809	0.95[ASN][1000 genomes]
rs10242348	1.00[ASN][1000 genomes]
rs10246400	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255901	0.98[ASN][1000 genomes]
rs10256144	1.00[ASN][1000 genomes]
rs10266879	1.00[ASN][1000 genomes]
rs10266971	0.98[ASN][1000 genomes]
rs10272181	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273647	0.98[ASN][1000 genomes]
rs10275398	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275720	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275779	0.96[ASN][1000 genomes]
rs10275780	0.95[ASN][1000 genomes]
rs10479871	0.97[ASN][1000 genomes]
rs11760321	1.00[ASN][1000 genomes]
rs11762285	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763432	1.00[ASN][1000 genomes]
rs11766220	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770388	1.00[ASN][1000 genomes]
rs11772165	0.93[ASN][1000 genomes]
rs11772364	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11772424	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772427	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773187	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773422	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437880	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4720606	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720607	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720609	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720610	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720611	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4720612	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724611	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724612	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59668342	0.97[ASN][1000 genomes]
rs6975915	0.88[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73107254	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7776882	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7793995	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794051	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7794346	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804238	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690214	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1024392	chr7:47707023-47758976	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1024027	chr7:47709936-47743485	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1028355	chr7:47715107-47758976	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv519172	chr7:47729511-47731420	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47720000-47732400	Weak transcription	Spleen	Spleen
2	chr7:47725800-47732400	Weak transcription	Placenta	Placenta
3	chr7:47725800-47732400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:47725800-47734000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:47726000-47732400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:47726200-47730400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:47727400-47729800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:47728000-47729600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:47728000-47729600	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:47728000-47729600	Enhancers	Brain Hippocampus Middle	brain
11	chr7:47728000-47729800	Enhancers	HepG2	liver
12	chr7:47728200-47729800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:47728400-47732600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:47728600-47730600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:47728600-47730600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:47728600-47730800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:47728600-47730800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:47728800-47729600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:47729000-47729600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr7:47729000-47729600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:47729200-47729600	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:47729200-47729600	Enhancers	Brain Anterior Caudate	brain
23	chr7:47729200-47729600	Enhancers	Fetal Thymus	thymus
24	chr7:47729200-47730400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:47729200-47730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:47729200-47730800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:47729200-47731200	Enhancers	Liver	Liver
28	chr7:47729400-47729600	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr7:47729400-47729600	Enhancers	HSMMtube	muscle
30	chr7:47729400-47730600	Weak transcription	A549	lung
31	chr7:47729400-47730600	Weak transcription	NHLF	lung
32	chr7:47729400-47730800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:47729400-47731000	Enhancers	Aorta	Aorta

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