Variant report

Variant	rs17553089
Chromosome Location	chr8:6404947-6404948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6404729..6406920-chr8:6412870..6416150,3	K562	blood:
2	chr8:6394442..6396969-chr8:6403020..6405358,2	K562	blood:
3	chr8:6393775..6396969-chr8:6403020..6405358,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12546205	1.00[YRI][hapmap]
rs12549365	1.00[YRI][hapmap]
rs17554274	1.00[YRI][hapmap]
rs17623747	1.00[YRI][hapmap]
rs17624399	1.00[YRI][hapmap]
rs17624865	1.00[YRI][hapmap]
rs2442585	1.00[YRI][hapmap]

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	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers 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

No data

Chromatin state (count:75 , 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	chr8:6364200-6417200	Weak transcription	Fetal Kidney	kidney
3	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:6367200-6417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:6370400-6405000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:6373600-6420200	Weak transcription	Esophagus	oesophagus
7	chr8:6374800-6408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:6377400-6405600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:6377400-6414600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:6386200-6417400	Weak transcription	Pancreas	Pancrea
11	chr8:6386800-6405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:6390400-6405000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:6390400-6407000	Weak transcription	Gastric	stomach
14	chr8:6391600-6416400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:6398200-6417200	Weak transcription	Brain Substantia Nigra	brain
16	chr8:6398400-6407000	Weak transcription	Spleen	Spleen
17	chr8:6398800-6407600	Weak transcription	Lung	lung
18	chr8:6399000-6405000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:6399000-6408000	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:6399400-6406200	Weak transcription	Fetal Thymus	thymus
21	chr8:6400200-6415600	Weak transcription	Stomach Mucosa	stomach
22	chr8:6401000-6405000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:6401000-6407000	Weak transcription	Right Ventricle	heart
24	chr8:6401000-6412200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:6401200-6407000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:6401200-6407400	Weak transcription	Ovary	ovary
27	chr8:6401400-6405200	Weak transcription	Right Atrium	heart
28	chr8:6402800-6406600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr8:6403000-6406000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:6403400-6405400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:6403600-6405800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr8:6403600-6406200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr8:6403600-6406400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:6404000-6405000	Weak transcription	Aorta	Aorta
35	chr8:6404200-6405200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr8:6404200-6405800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:6404200-6405800	Enhancers	HepG2	liver
38	chr8:6404200-6406000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:6404400-6405000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr8:6404400-6405000	Enhancers	Brain Anterior Caudate	brain
41	chr8:6404400-6405400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:6404400-6405400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:6404400-6405600	Enhancers	HSMM	muscle
44	chr8:6404400-6406000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:6404400-6406000	Enhancers	H9 Cell Line	embryonic stem cell
46	chr8:6404400-6406000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:6404400-6406000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:6404400-6406000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:6404400-6406000	Flanking Active TSS	NH-A	brain
50	chr8:6404400-6406000	Flanking Active TSS	NHDF-Ad	bronchial

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