Variant report

Variant	rs3800443
Chromosome Location	chr6:34905706-34905707
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34891666..34893180-chr6:34904331..34907073,2	K562	blood:
2	chr6:34904349..34905899-chr6:34908056..34909609,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10947534	0.93[JPT][hapmap]
rs10947535	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11755713	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs13204222	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13215944	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13220916	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16895035	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16895354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1737724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1883639	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2030611	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2395601	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs34006431	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35057781	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35499928	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35760768	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35786848	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3734258	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3734259	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3756859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3777750	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs3800448	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800452	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800453	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3822923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4646919	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4646920	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4646922	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4646941	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56140217	0.89[ASN][1000 genomes]
rs57955553	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58595551	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6457799	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6907427	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6912229	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6913108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6918498	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs6927009	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6936820	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6941065	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs73745049	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73745050	0.95[ASN][1000 genomes]
rs7740148	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7751820	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7752468	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7755801	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7756122	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847842	0.95[ASN][1000 genomes]
rs847844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs847845	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs847861	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs847862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs861878	0.97[ASN][1000 genomes]
rs9357185	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9357187	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9366870	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9368835	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9368837	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9380466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9380467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380470	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9380476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs9394254	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9394255	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9784889	0.93[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34872400-34907200	Weak transcription	Small Intestine	intestine
2	chr6:34877800-34921000	Weak transcription	Pancreas	Pancrea
3	chr6:34881200-34928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:34886400-34923400	Weak transcription	Primary T cells from cord blood	blood
5	chr6:34889600-34923400	Weak transcription	Primary B cells from cord blood	blood
6	chr6:34894600-34907200	Weak transcription	HepG2	liver
7	chr6:34895000-34907400	Weak transcription	HSMMtube	muscle
8	chr6:34895800-34949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:34896000-34934600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:34896200-34907200	Weak transcription	Fetal Intestine Small	intestine
11	chr6:34896600-34907400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:34896600-34910600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:34898200-34908000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:34901600-34907600	Enhancers	Fetal Heart	heart
15	chr6:34902200-34909000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:34902400-34915200	Weak transcription	NHEK	skin
17	chr6:34902400-34915400	Weak transcription	HMEC	breast
18	chr6:34902600-34922400	Weak transcription	Brain Germinal Matrix	brain
19	chr6:34903000-34907600	Weak transcription	Placenta	Placenta
20	chr6:34903000-34907600	Weak transcription	K562	blood
21	chr6:34903000-34907800	Weak transcription	Aorta	Aorta
22	chr6:34903000-34911200	Weak transcription	Fetal Thymus	thymus
23	chr6:34903200-34905800	Weak transcription	Stomach Mucosa	stomach
24	chr6:34903200-34906200	Weak transcription	Lung	lung
25	chr6:34903200-34906200	Weak transcription	Right Atrium	heart
26	chr6:34903200-34907000	Weak transcription	Fetal Intestine Large	intestine
27	chr6:34903200-34907800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:34903200-34909400	Weak transcription	Psoas Muscle	Psoas
29	chr6:34903200-34910800	Weak transcription	Right Ventricle	heart
30	chr6:34903200-34921200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:34903200-34927800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:34903400-34907400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:34903400-34907600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr6:34903400-34907600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:34903400-34907800	Weak transcription	Fetal Stomach	stomach
36	chr6:34903400-34908200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:34903400-34923200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr6:34903600-34907400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:34904600-34937400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:34905200-34905800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr6:34905200-34906200	Enhancers	Brain Hippocampus Middle	brain
42	chr6:34905200-34908200	Enhancers	Liver	Liver
43	chr6:34905200-34908200	Enhancers	Ovary	ovary
44	chr6:34905400-34905800	Weak transcription	Left Ventricle	heart
45	chr6:34905400-34906600	Enhancers	Primary hematopoietic stem cells	blood
46	chr6:34905400-34917000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:34905400-34917000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:34905600-34906200	Enhancers	Adipose Nuclei	Adipose

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