Variant report

Variant	rs13413290
Chromosome Location	chr2:152402663-152402664
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	chr2:152398754..152402722-chr2:152404309..152407409,3	K562	blood:
2	chr2:152402480..152405227-chr2:152409026..152411315,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12612539	1.00[EUR][1000 genomes]
rs12612655	1.00[EUR][1000 genomes]
rs12619249	1.00[EUR][1000 genomes]
rs12621850	1.00[EUR][1000 genomes]
rs12623646	1.00[EUR][1000 genomes]
rs16830087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16830088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16830140	1.00[EUR][1000 genomes]
rs16830170	1.00[EUR][1000 genomes]
rs16830173	1.00[EUR][1000 genomes]
rs16830174	1.00[EUR][1000 genomes]
rs16830189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16830216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16830236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3213817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35967764	1.00[EUR][1000 genomes]
rs41525550	1.00[EUR][1000 genomes]
rs6730990	1.00[EUR][1000 genomes]
rs73004051	1.00[EUR][1000 genomes]
rs73004053	1.00[EUR][1000 genomes]
rs7569133	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3693428	chr2:152320932-152434896	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	esv1793381	chr2:152370040-152463631	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv10198	chr2:152370068-152463644	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv2974	chr2:152401495-152499455	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 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	chr2:152343200-152422200	Weak transcription	Primary B cells from cord blood	blood
2	chr2:152360800-152424400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:152365200-152415600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:152370400-152403600	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:152371400-152421000	Weak transcription	Pancreas	Pancrea
6	chr2:152381000-152410200	Weak transcription	Placenta	Placenta
7	chr2:152383200-152424000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:152385800-152426800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:152389800-152412000	Strong transcription	HSMMtube	muscle
10	chr2:152391000-152405600	Weak transcription	Left Ventricle	heart
11	chr2:152392000-152405200	Weak transcription	Brain Angular Gyrus	brain
12	chr2:152392600-152414200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:152395000-152411800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr2:152395800-152411800	Strong transcription	Fetal Muscle Leg	muscle
15	chr2:152397000-152403600	Weak transcription	Psoas Muscle	Psoas
16	chr2:152401400-152405400	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:152401600-152405600	Weak transcription	Aorta	Aorta
18	chr2:152402200-152402800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:152402200-152403000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:152402400-152402800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:152402400-152402800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:152402600-152402800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:152402600-152402800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:152402600-152403000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:152402600-152403000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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