Variant report

Variant	rs9837730
Chromosome Location	chr3:142449369-142449370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142449190..142450946-chr3:142453466..142455123,2	K562	blood:
2	chr3:142440764..142447351-chr3:142447876..142453458,13	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
ENSG00000144935	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10049098	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10049364	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10935469	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12330897	1.00[AMR][1000 genomes]
rs12330901	1.00[AMR][1000 genomes]
rs13320613	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs13322816	0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13324817	1.00[JPT][hapmap]
rs13325615	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13434361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1479135	1.00[JPT][hapmap]
rs16834067	1.00[AMR][1000 genomes]
rs16852648	1.00[AMR][1000 genomes]
rs16852649	1.00[AMR][1000 genomes]
rs16852658	1.00[AMR][1000 genomes]
rs1916641	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28373594	1.00[AMR][1000 genomes]
rs28460347	1.00[AMR][1000 genomes]
rs28505293	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28564963	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28572271	1.00[AMR][1000 genomes]
rs28678273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28728040	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58015805	1.00[AMR][1000 genomes]
rs6798447	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72988606	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72988611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72988625	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990716	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992624	1.00[AMR][1000 genomes]
rs72992644	1.00[AMR][1000 genomes]
rs72992647	1.00[AMR][1000 genomes]
rs72992650	1.00[AMR][1000 genomes]
rs73002086	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002087	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7620319	1.00[JPT][hapmap]
rs7622773	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7628187	1.00[JPT][hapmap]
rs7630817	1.00[JPT][hapmap]
rs7637053	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs7638554	0.93[AFR][1000 genomes]
rs7641418	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7648475	1.00[JPT][hapmap]
rs9289650	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9809475	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9810360	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs9810606	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs9819681	1.00[AMR][1000 genomes]
rs9823492	0.86[YRI][hapmap]
rs9826191	1.00[AMR][1000 genomes]
rs9827373	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9836232	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9839771	1.00[AMR][1000 genomes]
rs9846572	1.00[AMR][1000 genomes]
rs9847616	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs9850432	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9863330	1.00[AMR][1000 genomes]
rs9867286	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9867886	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9875489	0.94[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9877174	0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9877670	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9879367	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9882985	0.81[AFR][1000 genomes];1.00[AMR][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	chr3:142445200-142450800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:142445200-142451000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:142445200-142467000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:142445200-142467000	Weak transcription	NHDF-Ad	bronchial
21	chr3:142445200-142467000	Weak transcription	Osteobl	bone
22	chr3:142445200-142467200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:142445200-142467400	Weak transcription	HMEC	breast
24	chr3:142445400-142467200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:142445600-142450600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:142445800-142467400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:142446000-142467000	Weak transcription	A549	lung
28	chr3:142446400-142450600	Weak transcription	HepG2	liver
29	chr3:142446400-142467200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:142446800-142450800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:142447000-142450600	Weak transcription	K562	blood
32	chr3:142447800-142450200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:142448400-142449400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:142448400-142455200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:142449200-142449400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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