Variant report

Variant	rs17324515
Chromosome Location	chr2:133396179-133396180
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	chr2:133395639..133398146-chr2:133561635..133563516,2	K562	blood:
2	chr2:133395862..133396428-chr2:133427987..133428958,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10208154	0.81[ASN][1000 genomes]
rs12466681	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13028563	1.00[YRI][hapmap]

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	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1014306	chr2:133252736-133402581	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535925	chr2:133252736-133402581	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv583155	chr2:133253386-133415170	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133389400-133403200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:133390000-133401000	Weak transcription	NH-A	brain
3	chr2:133390000-133403200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:133390200-133403200	Weak transcription	Esophagus	oesophagus
5	chr2:133390200-133412600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:133390400-133402000	Weak transcription	Fetal Kidney	kidney
7	chr2:133390400-133413800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:133390400-133423800	Weak transcription	A549	lung
9	chr2:133390600-133398800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:133390800-133402800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:133390800-133405400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:133391200-133399400	Weak transcription	Fetal Intestine Small	intestine
13	chr2:133393800-133396200	Enhancers	Pancreas	Pancrea
14	chr2:133394600-133399200	Weak transcription	Liver	Liver
15	chr2:133394600-133401000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:133394800-133401200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:133395200-133398400	Enhancers	Fetal Stomach	stomach
18	chr2:133395400-133402600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:133395600-133396200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:133395600-133399600	Weak transcription	HUVEC	blood vessel
21	chr2:133395600-133402600	Weak transcription	Osteobl	bone
22	chr2:133395800-133396200	Enhancers	Gastric	stomach
23	chr2:133395800-133396400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:133395800-133396400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:133395800-133397200	Enhancers	Fetal Brain Male	brain
26	chr2:133396000-133396200	Enhancers	Fetal Heart	heart
27	chr2:133396000-133396800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:133396000-133403600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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