Variant report

Variant	rs6800061
Chromosome Location	chr3:43736751-43736752
allele	A/T
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	POLR2A	chr3:43736678-43737504	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:43736693-43736758	K562	blood:	n/a	n/a

Variant related genes	Relation type
ANO10	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10433548	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928289	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12054321	0.97[ASN][1000 genomes]
rs12488350	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488392	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488553	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs12491747	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13095090	0.92[ASN][1000 genomes]
rs13100991	0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1468600	0.83[JPT][hapmap]
rs1468601	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17075884	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17075899	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17075919	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17075928	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109405	0.83[JPT][hapmap]
rs2191361	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372546	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35867389	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3733156	0.84[JPT][hapmap]
rs3774789	0.83[JPT][hapmap]
rs3774791	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774793	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682899	0.91[ASN][1000 genomes]
rs56894920	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58260401	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60530456	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60667165	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61373768	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441789	0.92[ASN][1000 genomes]
rs6762088	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6768998	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6781782	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799877	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6800391	1.00[CEU][hapmap]
rs72622909	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72622911	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72622912	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72622913	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72622914	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72622916	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72622917	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72622918	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7610406	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614885	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7620653	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7622145	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7632220	1.00[CEU][hapmap]
rs7651354	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs887472	0.83[JPT][hapmap]
rs9682978	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9784272	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9784273	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43733200-43747000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:43733200-43749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:43733400-43737400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:43733400-43743800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:43733400-43743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:43733400-43743800	Weak transcription	Ovary	ovary
7	chr3:43733400-43753200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:43733400-43767800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:43733600-43753600	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:43733600-43767400	Weak transcription	Fetal Brain Male	brain
11	chr3:43733600-43768000	Weak transcription	Fetal Kidney	kidney
12	chr3:43733800-43736800	Enhancers	A549	lung
13	chr3:43733800-43737200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr3:43733800-43741800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:43733800-43743800	Weak transcription	Fetal Stomach	stomach
16	chr3:43733800-43749400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:43734000-43737400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:43734000-43745800	Weak transcription	Fetal Heart	heart
19	chr3:43734000-43751800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr3:43734000-43753200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:43734200-43737800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:43734200-43738600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:43734200-43741000	Enhancers	Fetal Intestine Large	intestine
24	chr3:43734200-43741800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:43734200-43743000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:43734200-43743400	Weak transcription	Colonic Mucosa	Colon
27	chr3:43734200-43747600	Weak transcription	Spleen	Spleen
28	chr3:43734200-43749600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr3:43734200-43753600	Weak transcription	Primary T cells from cord blood	blood
30	chr3:43734200-43753600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:43734200-43754800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr3:43734400-43737400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:43734400-43737400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:43734400-43738800	Enhancers	HMEC	breast
35	chr3:43734400-43741600	Enhancers	Fetal Intestine Small	intestine
36	chr3:43734400-43742600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:43734400-43742800	Weak transcription	NH-A	brain
38	chr3:43734400-43743000	Weak transcription	HUVEC	blood vessel
39	chr3:43734400-43743800	Weak transcription	Left Ventricle	heart
40	chr3:43734400-43743800	Weak transcription	Lung	lung
41	chr3:43734400-43743800	Weak transcription	Thymus	Thymus
42	chr3:43734400-43751800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr3:43734400-43753200	Weak transcription	Fetal Thymus	thymus
44	chr3:43734400-43753200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr3:43734400-43753200	Weak transcription	HSMMtube	muscle
46	chr3:43734400-43762200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr3:43734600-43738200	Enhancers	NHDF-Ad	bronchial
48	chr3:43734600-43740600	Enhancers	Liver	Liver
49	chr3:43734600-43742400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr3:43734600-43743800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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