Variant report

Variant	rs9829983
Chromosome Location	chr3:112866733-112866734
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112865633..112868819-chr3:112877200..112880555,3	MCF-7	breast:
2	chr3:112866581..112868430-chr3:112875306..112877224,2	K562	blood:

Variant related genes	Relation type
ENSG00000240057	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11923603	0.82[CEU][hapmap]
rs12486277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12486305	0.82[YRI][hapmap]
rs1797621	0.88[AMR][1000 genomes]
rs1797622	0.89[AMR][1000 genomes]
rs1881943	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1881947	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1920080	0.95[ASN][1000 genomes]
rs2045687	0.88[AMR][1000 genomes]
rs2045688	0.87[AMR][1000 genomes]
rs2045691	0.88[AMR][1000 genomes]
rs2613921	0.82[AMR][1000 genomes]
rs2613922	0.82[AMR][1000 genomes]
rs2613963	0.95[ASN][1000 genomes]
rs2700202	0.82[AMR][1000 genomes]
rs2700206	0.88[AMR][1000 genomes]
rs2926811	0.88[AMR][1000 genomes]
rs2951458	0.88[AMR][1000 genomes]
rs2951459	0.88[AMR][1000 genomes]
rs2951460	0.88[AMR][1000 genomes]
rs2951462	0.89[AMR][1000 genomes]
rs2951463	0.88[AMR][1000 genomes]
rs3852010	0.88[AMR][1000 genomes]
rs4387939	0.88[AMR][1000 genomes]
rs6438130	0.85[AMR][1000 genomes]
rs6783663	0.92[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6807101	0.82[AMR][1000 genomes]
rs7632483	0.81[AMR][1000 genomes]
rs7650532	0.82[AMR][1000 genomes]
rs878460	0.82[AMR][1000 genomes]
rs9810734	0.92[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs9834189	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	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	chr3:112847800-112866800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:112852800-112866800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:112855000-112866800	Weak transcription	Pancreas	Pancrea
4	chr3:112858600-112867400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:112862600-112866800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:112862600-112866800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:112862800-112866800	Weak transcription	HMEC	breast
8	chr3:112863200-112866800	Weak transcription	Esophagus	oesophagus
9	chr3:112863400-112870600	Weak transcription	Left Ventricle	heart
10	chr3:112864400-112866800	Enhancers	Rectal Smooth Muscle	rectum
11	chr3:112864600-112867600	Enhancers	Colon Smooth Muscle	Colon
12	chr3:112865200-112866800	Weak transcription	Ovary	ovary
13	chr3:112865200-112867000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:112865200-112871400	Enhancers	Fetal Stomach	stomach
15	chr3:112865400-112866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:112865400-112867000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:112865400-112867600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr3:112865600-112870000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:112865600-112870000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:112865800-112867200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:112865800-112870400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:112866000-112867000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr3:112866000-112868200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr3:112866200-112866800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:112866200-112868200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:112866400-112867600	Enhancers	Adipose Nuclei	Adipose
27	chr3:112866400-112867800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:112866400-112867800	Enhancers	NHEK	skin
29	chr3:112866400-112869800	Enhancers	Fetal Muscle Leg	muscle
30	chr3:112866600-112866800	Enhancers	Fetal Muscle Trunk	muscle
31	chr3:112866600-112867000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:112866600-112867000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:112866600-112867800	Enhancers	Fetal Kidney	kidney
34	chr3:112866600-112868000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr3:112866600-112868200	Enhancers	Placenta	Placenta
36	chr3:112866600-112868200	Flanking Active TSS	Stomach Smooth Muscle	stomach

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