Variant report

Variant	rs10169873
Chromosome Location	chr2:47443405-47443406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47441944..47444316-chr2:47476312..47479303,2	MCF-7	breast:
2	chr2:47442306..47443952-chr2:47489350..47492039,2	MCF-7	breast:
3	chr2:47442736..47444439-chr2:47498242..47500143,2	MCF-7	breast:
4	chr2:47443128..47444876-chr2:47447324..47449483,2	MCF-7	breast:
5	chr2:47431418..47435182-chr2:47440517..47443533,3	MCF-7	breast:
6	chr2:47400618..47404473-chr2:47439602..47444709,5	K562	blood:
7	chr2:47442644..47445166-chr2:47495179..47497867,2	MCF-7	breast:
8	chr2:47441089..47444916-chr2:47445519..47450272,4	K562	blood:
9	chr2:47441085..47444071-chr2:47451267..47454120,3	MCF-7	breast:
10	chr2:47441816..47444642-chr2:47491530..47494006,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226087	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1039162	0.84[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12612040	0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13422681	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs17485833	0.87[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35551949	0.82[EUR][1000 genomes]
rs35911616	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4953479	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6544972	0.83[CHB][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7586186	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs904167	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
5	esv10649	chr2:47429316-47472670	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47431400-47447200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:47433400-47445200	Weak transcription	Fetal Kidney	kidney
3	chr2:47436600-47445200	Weak transcription	Stomach Mucosa	stomach
4	chr2:47438000-47452600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:47439000-47445200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:47442000-47448400	Enhancers	Fetal Intestine Large	intestine
7	chr2:47442200-47445600	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:47442200-47447200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:47442200-47448400	Enhancers	Fetal Intestine Small	intestine
10	chr2:47442200-47452400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:47442400-47445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:47442400-47445800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:47442400-47445800	Weak transcription	K562	blood
14	chr2:47442600-47444400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:47442600-47447200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:47442600-47448200	Enhancers	Liver	Liver
17	chr2:47442600-47452800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:47442800-47445600	Weak transcription	Colonic Mucosa	Colon
19	chr2:47442800-47450200	Weak transcription	Fetal Heart	heart
20	chr2:47443200-47444000	Bivalent Enhancer	HepG2	liver
21	chr2:47443200-47445200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr2:47443200-47445600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr2:47443400-47444400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:47443400-47444600	Weak transcription	Hela-S3	cervix
25	chr2:47443400-47445200	Weak transcription	Placenta	Placenta

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