Variant report

Variant	rs4491988
Chromosome Location	chr4:93972302-93972303
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	chr4:93970682..93973329-chr4:93973340..93974971,2	MCF-7	breast:
2	chr4:93968750..93971596-chr4:93971794..93974511,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1039938	0.86[EUR][1000 genomes]
rs12507987	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13108488	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13109062	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13110763	0.81[EUR][1000 genomes]
rs13126335	0.82[EUR][1000 genomes]
rs13126969	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13138538	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1456361	0.82[EUR][1000 genomes]
rs1840715	0.80[EUR][1000 genomes]
rs1840716	0.84[EUR][1000 genomes]
rs2870656	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34686894	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6811974	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7672245	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916371	chr4:93673026-93994807	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv879611	chr4:93707288-93987251	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv997640	chr4:93790604-93982695	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1007177	chr4:93834536-94155349	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537186	chr4:93834536-94155349	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879614	chr4:93869564-93989892	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv931937	chr4:93869856-94155348	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1011740	chr4:93904073-94073963	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3374790	chr4:93959718-94063251	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93969400-93974000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:93969600-93974200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:93969600-93974200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:93971000-93972400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:93971000-93973000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:93971000-93973200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:93971000-93973600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:93971200-93973000	Enhancers	Brain Germinal Matrix	brain
9	chr4:93971400-93972400	Active TSS	Brain Anterior Caudate	brain
10	chr4:93971400-93972600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:93971400-93972600	Enhancers	Fetal Brain Male	brain
12	chr4:93971400-93972800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:93971600-93972400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:93971600-93972600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:93971600-93972600	Enhancers	Brain Hippocampus Middle	brain
16	chr4:93971600-93972800	Active TSS	Brain Substantia Nigra	brain
17	chr4:93971800-93972600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr4:93972000-93973200	Enhancers	Fetal Brain Female	brain
19	chr4:93972200-93972400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:93972200-93972400	Active TSS	Brain Cingulate Gyrus	brain
21	chr4:93972200-93972400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr4:93972200-93973200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:93972200-93974000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:93972200-93974400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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