Variant report

Variant	rs3800447
Chromosome Location	chr6:34902390-34902391
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34892877..34895013-chr6:34901039..34903046,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1125342	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11970238	0.83[ASN][1000 genomes]
rs12173920	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12175621	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12176092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16894102	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs16894945	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16894995	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16895362	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16895467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16896235	1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2236392	0.84[EUR][1000 genomes]
rs2273007	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2764199	0.84[CHB][hapmap]
rs3734260	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3734263	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3756857	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3756858	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3777751	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3798349	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3798351	0.84[EUR][1000 genomes]
rs3800439	0.82[ASN][1000 genomes]
rs3800442	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3800449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3800455	0.87[EUR][1000 genomes]
rs3807051	0.86[ASN][1000 genomes]
rs4646923	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56825685	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56842618	0.84[EUR][1000 genomes]
rs57338415	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57608318	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57637041	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57645599	0.88[EUR][1000 genomes]
rs57916801	0.84[EUR][1000 genomes]
rs58654146	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58764768	0.84[ASN][1000 genomes]
rs58817410	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58833137	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59014029	0.87[EUR][1000 genomes]
rs59851773	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59884600	0.84[EUR][1000 genomes]
rs59952325	0.82[EUR][1000 genomes]
rs60410089	0.84[EUR][1000 genomes]
rs60439875	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60509690	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60754257	0.81[EUR][1000 genomes]
rs60815469	0.84[ASN][1000 genomes]
rs6939345	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs73403805	0.82[ASN][1000 genomes]
rs73413893	0.87[EUR][1000 genomes]
rs73415706	0.84[EUR][1000 genomes]
rs73415742	0.84[EUR][1000 genomes]
rs73415758	0.87[EUR][1000 genomes]
rs73415760	0.87[EUR][1000 genomes]
rs73415779	0.87[EUR][1000 genomes]
rs73415781	0.87[EUR][1000 genomes]
rs73417752	0.80[EUR][1000 genomes]
rs73417786	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73419615	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73419643	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73419650	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73419656	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73419658	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73419660	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73419689	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73421513	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73421527	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73421528	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73421536	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73421541	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs847849	1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[ASN][1000 genomes]
rs9348952	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9348954	0.89[CHB][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9348955	0.92[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9348956	1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9348957	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9357186	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9357189	1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9357191	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9366871	0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9366873	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9368840	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9368842	1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9368844	0.80[ASN][1000 genomes]
rs9380471	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9380472	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9380475	0.85[ASN][1000 genomes]
rs9380478	0.82[ASN][1000 genomes]
rs9394253	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9394257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9394258	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9394259	0.89[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9394261	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9394262	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9394264	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9394265	0.94[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs9394267	0.94[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]

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	chr6:34881400-34902800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:34885800-34902400	Weak transcription	Fetal Stomach	stomach
6	chr6:34886400-34902400	Weak transcription	Aorta	Aorta
7	chr6:34886400-34902600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:34886400-34923400	Weak transcription	Primary T cells from cord blood	blood
9	chr6:34887000-34902800	Weak transcription	Lung	lung
10	chr6:34887400-34902400	Weak transcription	Psoas Muscle	Psoas
11	chr6:34887600-34902600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:34889600-34923400	Weak transcription	Primary B cells from cord blood	blood
13	chr6:34894600-34907200	Weak transcription	HepG2	liver
14	chr6:34895000-34907400	Weak transcription	HSMMtube	muscle
15	chr6:34895800-34902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:34895800-34949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:34896000-34934600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:34896200-34902800	Weak transcription	Right Ventricle	heart
19	chr6:34896200-34907200	Weak transcription	Fetal Intestine Small	intestine
20	chr6:34896600-34907400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:34896600-34910600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:34897000-34902400	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:34897800-34902600	Weak transcription	Stomach Mucosa	stomach
24	chr6:34898200-34902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:34898200-34908000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:34901400-34903200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:34901600-34903000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:34901600-34903200	Enhancers	Ovary	ovary
29	chr6:34901600-34907600	Enhancers	Fetal Heart	heart
30	chr6:34901800-34903200	Enhancers	Left Ventricle	heart
31	chr6:34902000-34903200	Enhancers	Fetal Muscle Trunk	muscle
32	chr6:34902200-34902400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:34902200-34902400	Enhancers	NHEK	skin
34	chr6:34902200-34902600	Enhancers	Brain Germinal Matrix	brain
35	chr6:34902200-34902600	Weak transcription	Right Atrium	heart
36	chr6:34902200-34902800	Enhancers	Fetal Brain Male	brain
37	chr6:34902200-34903000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr6:34902200-34903000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:34902200-34903000	Enhancers	Adipose Nuclei	Adipose
40	chr6:34902200-34903000	Enhancers	Brain Anterior Caudate	brain
41	chr6:34902200-34903000	Enhancers	Fetal Lung	lung
42	chr6:34902200-34903200	Enhancers	Colon Smooth Muscle	Colon
43	chr6:34902200-34903200	Enhancers	Duodenum Mucosa	Duodenum
44	chr6:34902200-34903200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr6:34902200-34903200	Enhancers	Fetal Muscle Leg	muscle
46	chr6:34902200-34903400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:34902200-34903400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr6:34902200-34909000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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