Variant report

Variant	rs10268448
Chromosome Location	chr7:20071322-20071323
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	chr7:20069778..20072332-chr7:20074470..20077366,2	MCF-7	breast:
2	chr7:20070077..20071655-chr7:20071816..20074085,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10247632	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10263340	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12154235	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2190416	0.85[ASN][1000 genomes]
rs38129	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs38136	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38137	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38138	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs38154	0.90[CHB][hapmap]
rs38155	0.81[CHB][hapmap]
rs56104985	0.86[ASN][1000 genomes]
rs6461473	0.82[ASN][1000 genomes]
rs66662580	0.87[ASN][1000 genomes]
rs66926140	0.88[ASN][1000 genomes]
rs67045330	0.86[ASN][1000 genomes]
rs68109726	0.87[ASN][1000 genomes]
rs6953051	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7796210	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][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	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1027445	chr7:19947297-20211733	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv887830	chr7:19970584-20114589	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1027849	chr7:20003094-20084998	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2762658	chr7:20023224-20127561	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1023992	chr7:20053816-20104675	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10268448	CEND1	trans	cerebellum	SCAN
rs10268448	AHR	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:20060400-20075000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:20061400-20072800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:20067000-20092800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:20067600-20072800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:20067800-20073000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:20068200-20077200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:20068400-20073000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:20069400-20072800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:20069600-20071400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:20070000-20071400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:20070000-20071400	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:20070000-20071400	Flanking Active TSS	GM12878-XiMat	blood
13	chr7:20070000-20071600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:20070000-20071600	Enhancers	Primary B cells from cord blood	blood
15	chr7:20070000-20072800	Enhancers	Osteobl	bone
16	chr7:20070000-20073000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:20070000-20073400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:20070000-20074000	Enhancers	NHDF-Ad	bronchial
19	chr7:20070200-20072000	Enhancers	Colon Smooth Muscle	Colon
20	chr7:20070400-20074800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:20070800-20072200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:20070800-20073000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:20070800-20073000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:20071000-20071800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:20071000-20073000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:20071000-20073200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:20071200-20073000	Weak transcription	NH-A	brain
28	chr7:20071200-20073200	Weak transcription	HSMMtube	muscle

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