Variant report

Variant	rs1983247
Chromosome Location	chr1:220470450-220470451
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220469913..220472006-chr1:220498061..220500308,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10863542	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10863543	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863545	0.82[AMR][1000 genomes]
rs11118518	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11589736	0.95[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1511697	0.83[AMR][1000 genomes]
rs1983248	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2089861	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2089862	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4846623	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4846627	0.83[AMR][1000 genomes]
rs756245	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs879449	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs907414	0.83[AMR][1000 genomes]
rs925446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925447	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220464200-220473600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:220464600-220471600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:220464600-220471600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:220464600-220473800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:220465200-220472600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:220467400-220471200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:220467400-220472200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:220468400-220471200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:220468400-220471400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:220468400-220473600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:220468600-220471600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:220468600-220473400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:220468600-220473400	Weak transcription	NH-A	brain
14	chr1:220468600-220473600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:220468600-220473600	Weak transcription	Fetal Stomach	stomach
16	chr1:220469200-220473400	Weak transcription	NHDF-Ad	bronchial
17	chr1:220470000-220472200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:220470200-220470800	Enhancers	Osteobl	bone
19	chr1:220470400-220470600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:220470400-220470800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:220470400-220471000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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