Variant report

Variant	rs2049328
Chromosome Location	chr3:142448579-142448580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142440764..142447351-chr3:142447876..142453458,13	K562	blood:
2	chr3:142446523..142449403-chr3:142504963..142507235,2	K562	blood:
3	chr3:142446381..142451042-chr3:142452461..142456745,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144935	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11715459	0.89[CHB][hapmap];0.89[ASN][1000 genomes]
rs11717993	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11915805	0.91[ASN][1000 genomes]
rs1382688	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2033912	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2177398	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2354856	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28658009	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28689551	0.82[EUR][1000 genomes]
rs34445140	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35467195	0.93[ASN][1000 genomes]
rs35862982	0.91[ASN][1000 genomes]
rs3821647	0.87[CEU][hapmap];0.94[CHB][hapmap]
rs4259003	0.87[CEU][hapmap];0.88[CHB][hapmap]
rs4530572	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4643748	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs55722370	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56666685	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56775607	0.91[ASN][1000 genomes]
rs57026466	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59108985	0.82[EUR][1000 genomes]
rs60294656	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60319320	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60752859	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6440104	0.89[CHB][hapmap]
rs6440105	0.90[EUR][1000 genomes]
rs6440106	0.93[ASN][1000 genomes]
rs6440108	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs66897945	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67100994	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6772222	0.82[EUR][1000 genomes]
rs6777466	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6798849	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6803681	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs73232711	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7621642	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7623762	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs7623977	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7631245	0.94[CHB][hapmap]
rs7635768	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7637826	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7637846	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7638459	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7639403	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7641514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7642332	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7646197	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7653309	0.85[EUR][1000 genomes]
rs953239	0.94[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs953641	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[EUR][1000 genomes]
rs9758429	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9815607	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9824476	0.82[EUR][1000 genomes]
rs9835135	0.82[EUR][1000 genomes]
rs9836269	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9849461	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9851381	0.80[CEU][hapmap]
rs9864230	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9868886	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[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:35 , 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	chr3:142445200-142449000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:142445200-142450800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:142445200-142451000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:142445200-142467000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:142445200-142467000	Weak transcription	NHDF-Ad	bronchial
22	chr3:142445200-142467000	Weak transcription	Osteobl	bone
23	chr3:142445200-142467200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:142445200-142467400	Weak transcription	HMEC	breast
25	chr3:142445400-142467200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:142445600-142450600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:142445800-142467400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:142446000-142467000	Weak transcription	A549	lung
29	chr3:142446400-142450600	Weak transcription	HepG2	liver
30	chr3:142446400-142467200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:142446800-142450800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:142447000-142450600	Weak transcription	K562	blood
33	chr3:142447800-142450200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:142448400-142449400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:142448400-142455200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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