Variant report

Variant	rs1384539
Chromosome Location	chr3:156811941-156811942
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156811094..156814889-chr3:156831563..156835673,4	K562	blood:
2	chr3:156810131..156811992-chr3:156822075..156824896,2	MCF-7	breast:
3	chr3:156802474..156811977-chr3:156831792..156841748,16	K562	blood:

Variant related genes	Relation type
ENSG00000243629	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13072135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13072757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13094970	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1384540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34122975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35649103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59634016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6793284	0.88[JPT][hapmap]

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	esv3349885	chr3:156685409-156878910	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156807600-156815800	Weak transcription	HSMMtube	muscle
2	chr3:156807800-156812200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:156807800-156812200	Weak transcription	HMEC	breast
4	chr3:156807800-156812400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:156807800-156812400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:156807800-156813000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:156807800-156816200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:156807800-156822000	Weak transcription	Aorta	Aorta
9	chr3:156808000-156812200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:156808000-156812200	Weak transcription	NHLF	lung
11	chr3:156808000-156812400	Weak transcription	A549	lung
12	chr3:156808400-156812400	Weak transcription	HUVEC	blood vessel
13	chr3:156808600-156812400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:156808600-156821600	Weak transcription	Small Intestine	intestine
15	chr3:156810200-156812600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:156810400-156817600	Weak transcription	Lung	lung
17	chr3:156810600-156812400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:156810600-156812400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:156810600-156812400	Weak transcription	Pancreas	Pancrea
20	chr3:156810600-156812400	Weak transcription	NH-A	brain
21	chr3:156810600-156812600	Active TSS	Left Ventricle	heart
22	chr3:156810600-156813000	Active TSS	Right Ventricle	heart
23	chr3:156810600-156816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:156810600-156832000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:156810800-156812400	Weak transcription	K562	blood
26	chr3:156811000-156812200	Weak transcription	HepG2	liver
27	chr3:156811000-156812800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:156811000-156823000	Weak transcription	Spleen	Spleen
29	chr3:156811200-156812200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:156811200-156812600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:156811200-156812800	Weak transcription	Right Atrium	heart
32	chr3:156811200-156815000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:156811200-156817800	Weak transcription	Psoas Muscle	Psoas
34	chr3:156811400-156812200	Weak transcription	Fetal Heart	heart
35	chr3:156811400-156812400	Weak transcription	Fetal Intestine Small	intestine
36	chr3:156811400-156818600	Weak transcription	Fetal Intestine Large	intestine
37	chr3:156811600-156813200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:156811600-156813200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:156811600-156815600	Weak transcription	GM12878-XiMat	blood
40	chr3:156811800-156812200	Weak transcription	HSMM	muscle
41	chr3:156811800-156813200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr3:156811800-156813200	Enhancers	NHEK	skin
43	chr3:156811800-156821000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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