Variant report

Variant	rs55655603
Chromosome Location	chr3:142446742-142446743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142446534..142448201-chr3:142464004..142466912,2	K562	blood:
2	chr3:142296594..142299227-chr3:142445379..142447905,3	K562	blood:
3	chr3:142446523..142449403-chr3:142504963..142507235,2	K562	blood:
4	chr3:142446381..142451042-chr3:142452461..142456745,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175054	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11707735	0.81[EUR][1000 genomes]
rs11717988	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2140436	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs55851231	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56239979	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56246347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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	0.86[EUR][1000 genomes]
rs73230583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73230588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73230590	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73232704	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73232707	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73232714	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73232716	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142444000-142452600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:142444200-142467400	Weak transcription	HSMM	muscle
3	chr3:142444400-142451000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:142444400-142451200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:142444400-142454400	Weak transcription	Ovary	ovary
6	chr3:142444400-142467200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:142444400-142469600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:142444600-142451200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:142444600-142453800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:142444600-142454200	Weak transcription	NHLF	lung
11	chr3:142444600-142467200	Weak transcription	NH-A	brain
12	chr3:142445000-142451000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:142445000-142451200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:142445000-142467400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:142445000-142467800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:142445000-142479000	Weak transcription	Fetal Brain Female	brain
17	chr3:142445200-142447800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:142445200-142449000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:142445200-142450800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:142445200-142451000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:142445200-142467000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:142445200-142467000	Weak transcription	NHDF-Ad	bronchial
23	chr3:142445200-142467000	Weak transcription	Osteobl	bone
24	chr3:142445200-142467200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:142445200-142467400	Weak transcription	HMEC	breast
26	chr3:142445400-142467200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:142445600-142450600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:142445800-142447600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:142445800-142467400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:142446000-142467000	Weak transcription	A549	lung
31	chr3:142446200-142447000	Enhancers	K562	blood
32	chr3:142446200-142448000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:142446400-142446800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:142446400-142447600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:142446400-142450600	Weak transcription	HepG2	liver
36	chr3:142446400-142467200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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