Variant report

Variant	rs4682483
Chromosome Location	chr3:112993982-112993983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr3:112993769-112994161	T-47D	breast:	n/a	n/a
2	FOXA1	chr3:112993687-112994155	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
BOC	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10511323	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11710894	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717833	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11919134	0.84[AMR][1000 genomes]
rs12485329	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12492273	0.82[EUR][1000 genomes]
rs12494864	0.82[EUR][1000 genomes]
rs12631733	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12638030	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16860758	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16860787	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036282	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34284771	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814398	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3846046	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3856718	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3856719	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3856720	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41271357	0.81[AMR][1000 genomes]
rs4682131	0.82[EUR][1000 genomes]
rs4682132	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4682478	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4682479	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4682481	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73235143	0.82[EUR][1000 genomes]
rs73235147	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7641410	0.82[EUR][1000 genomes]
rs775222	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112969000-112995200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:112969800-112994200	Weak transcription	Spleen	Spleen
3	chr3:112973600-112997200	Weak transcription	Colonic Mucosa	Colon
4	chr3:112974200-112994600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:112981600-112994400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:112983800-112995000	Weak transcription	Lung	lung
7	chr3:112984000-112994400	Weak transcription	HSMMtube	muscle
8	chr3:112984200-112994400	Weak transcription	HSMM	muscle
9	chr3:112984800-112998400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:112984800-113016400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:112986200-112994200	Strong transcription	Ovary	ovary
12	chr3:112986400-112994600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:112987200-112994400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:112987800-112996000	Enhancers	Pancreas	Pancrea
15	chr3:112988000-113003000	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr3:112988200-112994200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:112988200-112994200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:112988200-112994600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:112988400-112994000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:112988400-112994600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:112988400-112996800	Weak transcription	Placenta	Placenta
22	chr3:112989000-112994000	Weak transcription	Brain Anterior Caudate	brain
23	chr3:112989000-112997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:112989400-112994200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:112989600-112994200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:112989800-112994400	Weak transcription	NH-A	brain
27	chr3:112990200-112994800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:112990400-112994600	Strong transcription	Esophagus	oesophagus
29	chr3:112990400-113036000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:112990600-112994000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:112990600-113004000	Weak transcription	NHEK	skin
32	chr3:112990800-112994000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:112991000-112994000	Strong transcription	NHDF-Ad	bronchial
34	chr3:112991000-112994400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr3:112991000-112994400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
36	chr3:112991200-112994200	Weak transcription	Stomach Mucosa	stomach
37	chr3:112991600-112994400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:112991600-112995000	Weak transcription	Aorta	Aorta
39	chr3:112991600-112995000	Weak transcription	K562	blood
40	chr3:112991800-112994600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:112991800-112995000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:112991800-113006400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr3:112992000-112994000	Weak transcription	Brain Germinal Matrix	brain
44	chr3:112992000-112994200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:112992000-112994200	Weak transcription	Fetal Intestine Large	intestine
46	chr3:112992400-112994000	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:112992400-112994000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:112992400-112995200	Genic enhancers	Fetal Muscle Leg	muscle
49	chr3:112992600-112994200	Weak transcription	Gastric	stomach
50	chr3:112992800-112994600	Genic enhancers	Stomach Smooth Muscle	stomach

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