Variant report

Variant	rs1427315
Chromosome Location	chr2:144897459-144897460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144892733..144894678-chr2:144896829..144900456,3	K562	blood:
2	chr2:144895471..144897745-chr2:144898659..144900274,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10496957	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12615549	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs13411437	0.86[LWK][hapmap];0.82[MKK][hapmap]
rs1344628	0.86[LWK][hapmap];0.82[MKK][hapmap]
rs1429097	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1465366	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs1465367	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.80[MKK][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs1465368	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs16823360	0.89[JPT][hapmap]
rs16823412	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs16823471	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16823475	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs16823488	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16823491	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16823520	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16823541	0.86[LWK][hapmap];0.82[MKK][hapmap]
rs34429810	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4662217	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4662364	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.80[MKK][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs4662366	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs4662368	0.86[LWK][hapmap];0.82[MKK][hapmap]
rs55772185	0.92[EUR][1000 genomes]
rs56119149	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56349864	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57286143	0.84[AFR][1000 genomes]
rs6430050	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6719835	0.94[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6725251	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs67551205	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6757980	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67782055	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72854147	0.89[EUR][1000 genomes]
rs72855503	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7564488	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7572015	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7602624	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs959766	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs959767	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]

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	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144869400-144899000	Weak transcription	Aorta	Aorta
2	chr2:144870200-144909000	Weak transcription	Psoas Muscle	Psoas
3	chr2:144871400-144900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:144871600-144903200	Weak transcription	Left Ventricle	heart
5	chr2:144872000-144901200	Weak transcription	Fetal Kidney	kidney
6	chr2:144873600-144901400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:144873600-144901400	Weak transcription	Adipose Nuclei	Adipose
8	chr2:144873800-144901800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:144874800-144913200	Weak transcription	Fetal Lung	lung
10	chr2:144877200-144903200	Weak transcription	Ovary	ovary
11	chr2:144883200-144908000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:144891600-144902400	Weak transcription	Fetal Brain Male	brain
13	chr2:144891800-144917400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:144892000-144903000	Weak transcription	Primary T cells from cord blood	blood
15	chr2:144892200-144914400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:144894400-144898600	Weak transcription	Primary B cells from cord blood	blood
17	chr2:144895800-144900400	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:144895800-144901000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:144895800-144901200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:144895800-144901600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:144895800-144902400	Weak transcription	HSMMtube	muscle
22	chr2:144895800-144910000	Weak transcription	NH-A	brain
23	chr2:144896000-144901600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr2:144896200-144898200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:144896200-144901000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:144896400-144898000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:144896400-144898000	Weak transcription	NHLF	lung
28	chr2:144896400-144901200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:144896400-144909800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:144896600-144898000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:144896600-144898200	Weak transcription	HSMM	muscle
32	chr2:144896600-144898400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:144897200-144899600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:144897400-144898400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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