Variant report

Variant	rs1242065
Chromosome Location	chr3:143372127-143372128
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1242066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1242067	0.83[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1242068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1242070	0.83[CEU][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1242073	0.83[CEU][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1242074	0.91[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1242075	0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1242077	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1242079	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6762408	0.80[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7613679	0.87[YRI][hapmap];0.83[ASN][1000 genomes]
rs9873621	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv829745	chr3:143278512-143405626	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143328200-143376200	Weak transcription	Ovary	ovary
2	chr3:143354200-143373600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:143354200-143374000	Weak transcription	Esophagus	oesophagus
4	chr3:143361400-143373400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:143363400-143372800	Weak transcription	Brain Anterior Caudate	brain
6	chr3:143363400-143373800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:143363400-143373800	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:143363400-143377600	Weak transcription	NHDF-Ad	bronchial
9	chr3:143363600-143375400	Weak transcription	Fetal Thymus	thymus
10	chr3:143363600-143377800	Weak transcription	Adipose Nuclei	Adipose
11	chr3:143363600-143379000	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:143363800-143373800	Weak transcription	HSMMtube	muscle
13	chr3:143367400-143390400	Weak transcription	Brain Substantia Nigra	brain
14	chr3:143367600-143373200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr3:143367600-143375400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:143368200-143372600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:143368800-143372200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:143369400-143374600	Weak transcription	Lung	lung
19	chr3:143369800-143373800	Weak transcription	Primary B cells from cord blood	blood
20	chr3:143370200-143372200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:143370200-143373800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:143370200-143374800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:143370200-143376000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:143370400-143390400	Weak transcription	Fetal Lung	lung
25	chr3:143370600-143372400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:143370600-143373000	Enhancers	Liver	Liver
27	chr3:143370600-143375600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:143370800-143373000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:143370800-143420800	Weak transcription	Primary T cells from cord blood	blood
30	chr3:143371200-143383000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr3:143371800-143372400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:143371800-143374800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:143372000-143375000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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