Variant report

Variant	rs56246347
Chromosome Location	chr3:142467310-142467311
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	chr3:142454807..142457624-chr3:142465481..142467618,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11717988	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2140436	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs55655603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55851231	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56239979	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56328361	0.86[AFR][1000 genomes]
rs56397702	0.86[AFR][1000 genomes]
rs73228762	0.86[AFR][1000 genomes]
rs73228782	0.86[AFR][1000 genomes]
rs73228788	0.86[AFR][1000 genomes]
rs73230566	0.81[EUR][1000 genomes]
rs73230583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73230587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73230590	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73232704	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73232707	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73232714	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73232716	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591920	chr3:142411200-142496951	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv521098	chr3:142411200-142503605	Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv518623	chr3:142417070-142503605	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142444200-142467400	Weak transcription	HSMM	muscle
2	chr3:142444400-142469600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:142445000-142467400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:142445000-142467800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:142445000-142479000	Weak transcription	Fetal Brain Female	brain
6	chr3:142445200-142467400	Weak transcription	HMEC	breast
7	chr3:142445800-142467400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:142451800-142467600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:142452800-142489000	Weak transcription	Aorta	Aorta
10	chr3:142454800-142467400	Weak transcription	Fetal Brain Male	brain
11	chr3:142458000-142482800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:142459000-142470000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:142461800-142470600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:142462000-142467800	Weak transcription	Brain Substantia Nigra	brain
15	chr3:142464800-142493200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr3:142465000-142469000	Weak transcription	K562	blood
17	chr3:142465400-142468000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr3:142465600-142467400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:142465600-142467600	Weak transcription	Brain Germinal Matrix	brain
20	chr3:142465600-142471800	Weak transcription	HepG2	liver
21	chr3:142465800-142467400	Weak transcription	Brain Anterior Caudate	brain
22	chr3:142465800-142467600	Weak transcription	Fetal Lung	lung
23	chr3:142466000-142467600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:142466000-142469600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:142466000-142488400	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:142466200-142474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:142466400-142467400	Weak transcription	Ovary	ovary
28	chr3:142466400-142467800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:142466400-142478200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:142466400-142479000	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:142466800-142467600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:142467000-142467600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:142467000-142468400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:142467000-142468400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:142467000-142468400	Strong transcription	A549	lung
36	chr3:142467000-142468400	Strong transcription	NHDF-Ad	bronchial
37	chr3:142467000-142468400	Strong transcription	Osteobl	bone
38	chr3:142467000-142469800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:142467200-142467800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:142467200-142467800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:142467200-142467800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:142467200-142468000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:142467200-142468200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:142467200-142468400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:142467200-142468400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:142467200-142468400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:142467200-142468400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr3:142467200-142468400	Strong transcription	Left Ventricle	heart
49	chr3:142467200-142468400	Strong transcription	NH-A	brain
50	chr3:142467200-142468600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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