Variant report

Variant	rs2442601
Chromosome Location	chr8:6392243-6392244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs17063434	0.81[EUR][1000 genomes]
rs17077313	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1960369	0.81[EUR][1000 genomes]
rs2442611	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2442612	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2442613	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2442614	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2442615	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2442616	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2442617	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2442619	0.81[EUR][1000 genomes]
rs2442621	0.81[EUR][1000 genomes]
rs2442623	0.81[EUR][1000 genomes]
rs2442624	0.81[EUR][1000 genomes]
rs2442625	0.81[EUR][1000 genomes]
rs2442627	0.81[EUR][1000 genomes]
rs2442628	0.81[EUR][1000 genomes]
rs2515423	0.81[EUR][1000 genomes]
rs2515425	0.81[EUR][1000 genomes]
rs2515426	0.81[EUR][1000 genomes]
rs2515427	0.81[EUR][1000 genomes]
rs2515428	0.81[EUR][1000 genomes]
rs2515429	0.81[EUR][1000 genomes]
rs2515433	0.81[EUR][1000 genomes]
rs2515434	0.81[EUR][1000 genomes]
rs2515436	0.81[EUR][1000 genomes]
rs2515437	0.81[EUR][1000 genomes]
rs2515438	0.81[EUR][1000 genomes]
rs2515439	0.81[EUR][1000 genomes]
rs2515442	0.81[EUR][1000 genomes]
rs2515443	0.81[EUR][1000 genomes]
rs2515444	0.81[EUR][1000 genomes]
rs2515445	0.81[EUR][1000 genomes]
rs2515448	0.95[EUR][1000 genomes]
rs2515449	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2515450	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2515451	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2515452	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2515454	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2515456	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2515457	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2515458	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2515459	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2515460	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2515461	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2515463	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2515467	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2515468	0.93[EUR][1000 genomes]
rs2922891	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2922898	0.81[EUR][1000 genomes]
rs3020222	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3020223	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73199047	0.95[EUR][1000 genomes]
rs73199048	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73199051	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73199054	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs963495	0.81[EUR][1000 genomes]
rs963496	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv890057	chr8:6317165-6427868	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv1022895	chr8:6355213-6414874	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv933260	chr8:6357124-6410013	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv933371	chr8:6389824-6399925	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr8:6345800-6402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:6364200-6417200	Weak transcription	Fetal Kidney	kidney
4	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:6367200-6417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:6370200-6400800	Weak transcription	Fetal Intestine Small	intestine
7	chr8:6370400-6400200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:6370400-6402600	Weak transcription	GM12878-XiMat	blood
9	chr8:6370400-6403000	Weak transcription	Primary B cells from cord blood	blood
10	chr8:6370400-6405000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:6373600-6420200	Weak transcription	Esophagus	oesophagus
12	chr8:6374800-6408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:6375200-6404400	Weak transcription	NHEK	skin
14	chr8:6377000-6398200	Weak transcription	Spleen	Spleen
15	chr8:6377400-6396000	Weak transcription	Aorta	Aorta
16	chr8:6377400-6398000	Weak transcription	Left Ventricle	heart
17	chr8:6377400-6398600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:6377400-6400800	Weak transcription	Thymus	Thymus
19	chr8:6377400-6405600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:6377400-6414600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:6378000-6395800	Weak transcription	Lung	lung
22	chr8:6386200-6417400	Weak transcription	Pancreas	Pancrea
23	chr8:6386800-6393800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:6386800-6405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:6387000-6403800	Weak transcription	Primary T cells from cord blood	blood
26	chr8:6387400-6398000	Weak transcription	HUVEC	blood vessel
27	chr8:6388400-6393000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:6388800-6398400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:6389200-6397200	Enhancers	NHDF-Ad	bronchial
30	chr8:6389800-6396800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:6390000-6392800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:6390000-6398000	Weak transcription	Fetal Thymus	thymus
33	chr8:6390000-6402200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:6390200-6396000	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:6390400-6398000	Weak transcription	Brain Substantia Nigra	brain
36	chr8:6390400-6403400	Weak transcription	Dnd41	blood
37	chr8:6390400-6404400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:6390400-6405000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:6390400-6407000	Weak transcription	Gastric	stomach
40	chr8:6390800-6394000	Enhancers	Fetal Stomach	stomach
41	chr8:6390800-6395000	Enhancers	Fetal Muscle Leg	muscle
42	chr8:6391000-6394400	Weak transcription	Psoas Muscle	Psoas
43	chr8:6391000-6398000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:6391600-6393200	Enhancers	Fetal Lung	lung
45	chr8:6391600-6397600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:6391600-6416400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr8:6391800-6393200	Enhancers	Adipose Nuclei	Adipose
48	chr8:6391800-6393200	Enhancers	NH-A	brain
49	chr8:6391800-6393400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:6391800-6393400	Enhancers	Osteobl	bone

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