Variant report

Variant	rs7521141
Chromosome Location	chr1:220469776-220469777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220469385..220470228-chr1:220949821..220950691,3	MCF-7	breast:
2	chr1:220469571..220470221-chr1:220949339..220950314,2	K562	blood:
3	chr1:220469332..220470229-chr1:220906478..220907163,2	MCF-7	breast:
4	chr1:220469478..220470085-chr1:220544313..220545123,2	MCF-7	breast:
5	chr1:220462922..220464808-chr1:220468310..220469858,2	MCF-7	breast:
6	chr1:220469373..220470129-chr1:220494958..220495790,3	MCF-7	breast:
7	chr1:220469259..220470199-chr1:220684932..220685751,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17565935	0.83[AMR][1000 genomes]
rs17566172	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17567252	0.94[ASN][1000 genomes]
rs17641091	0.90[ASN][1000 genomes]
rs17641428	0.82[ASN][1000 genomes]
rs55673394	0.94[ASN][1000 genomes]
rs55807644	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55914754	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55991348	0.85[ASN][1000 genomes]
rs56040283	0.94[ASN][1000 genomes]
rs56103229	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72749215	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72749218	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72749219	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72749221	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72749222	0.83[AMR][1000 genomes]
rs72749226	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72749236	0.85[ASN][1000 genomes]
rs7519416	0.94[ASN][1000 genomes]
rs7520639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220464200-220470400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:220464200-220473600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:220464600-220471600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:220464600-220471600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:220464600-220473800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:220465200-220472600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:220467400-220471200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:220467400-220472200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:220468400-220471200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:220468400-220471400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:220468400-220473600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:220468600-220470400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:220468600-220471600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:220468600-220473400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:220468600-220473400	Weak transcription	NH-A	brain
16	chr1:220468600-220473600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:220468600-220473600	Weak transcription	Fetal Stomach	stomach
18	chr1:220469200-220473400	Weak transcription	NHDF-Ad	bronchial
19	chr1:220469600-220469800	Enhancers	Osteobl	bone

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