Variant report

Variant	rs17013126
Chromosome Location	chr2:33709961-33709962
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	chr2:33708290..33711080-chr2:33714152..33717140,3	K562	blood:
2	chr2:33700002..33701535-chr2:33708828..33711417,2	K562	blood:

Variant related genes	Relation type
ENSG00000152689	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10495789	0.91[CEU][hapmap];0.84[TSI][hapmap]
rs11676250	1.00[ASW][hapmap];0.92[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13009794	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1378725	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17013137	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs17013166	0.83[CEU][hapmap];0.88[JPT][hapmap]
rs34432178	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34530057	0.84[ASN][1000 genomes]
rs35799810	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57647413	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57665994	0.81[ASN][1000 genomes]
rs61382538	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6543716	0.83[CHD][hapmap]
rs6705101	0.83[CEU][hapmap]
rs6716035	0.93[EUR][1000 genomes]
rs6736350	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6741198	0.94[EUR][1000 genomes]
rs6757351	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6758071	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6758325	0.88[CHD][hapmap]
rs719546	0.83[CEU][hapmap]
rs765253	0.88[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873792	chr2:33682737-33715742	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1829750	chr2:33704194-33740571	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1798854	chr2:33708860-33720009	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33703600-33711800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:33703600-33715600	Weak transcription	Spleen	Spleen
3	chr2:33704800-33717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:33705000-33710800	Enhancers	Fetal Heart	heart
5	chr2:33705000-33714000	Weak transcription	Right Ventricle	heart
6	chr2:33705600-33710000	Weak transcription	Pancreas	Pancrea
7	chr2:33706000-33714400	Weak transcription	Right Atrium	heart
8	chr2:33707400-33710600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:33708000-33713600	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:33708600-33710400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:33708600-33710600	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:33708600-33710600	Enhancers	NHDF-Ad	bronchial
13	chr2:33708800-33710000	Enhancers	HSMMtube	muscle
14	chr2:33708800-33710400	Flanking Active TSS	GM12878-XiMat	blood
15	chr2:33709000-33710000	Weak transcription	Left Ventricle	heart
16	chr2:33709000-33710000	Weak transcription	Psoas Muscle	Psoas
17	chr2:33709000-33710200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:33709200-33710000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:33709200-33710200	Enhancers	NHLF	lung
20	chr2:33709400-33710600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:33709600-33710400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr2:33709600-33710400	Enhancers	Primary hematopoietic stem cells	blood
23	chr2:33709600-33710600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:33709800-33710400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:33709800-33710400	Enhancers	Osteobl	bone
26	chr2:33709800-33710600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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