Variant report

Variant	rs200070522
Chromosome Location	chr5:179020977-179020978
allele	-/AT/TA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179020501..179022389-chr5:179025199..179026893,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
4	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
5	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
7	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	esv3429456	chr5:179020264-179021958	Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
3	chr5:178987800-179031000	Strong transcription	Fetal Muscle Leg	muscle
4	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:178996200-179022600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:178996800-179034000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:178999800-179034800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:179000000-179034200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:179000400-179022800	Weak transcription	Fetal Heart	heart
10	chr5:179002200-179022800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:179002200-179045600	Strong transcription	Fetal Intestine Large	intestine
12	chr5:179005000-179032400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr5:179007400-179030200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr5:179007400-179033800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:179007400-179034800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:179007400-179035200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:179007400-179035200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:179007400-179037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:179007400-179040200	Strong transcription	Placenta	Placenta
20	chr5:179007400-179045000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:179007600-179034400	Strong transcription	Thymus	Thymus
22	chr5:179008200-179032800	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr5:179010000-179034600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:179010800-179034000	Strong transcription	Fetal Thymus	thymus
25	chr5:179011000-179034200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:179011000-179045600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:179011200-179030400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:179011200-179034000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr5:179011200-179039000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:179011200-179043800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:179012000-179031600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr5:179012200-179027800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:179012200-179029800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:179012200-179034600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:179012200-179035000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:179012400-179034000	Strong transcription	Fetal Brain Female	brain
37	chr5:179012400-179036400	Strong transcription	Lung	lung
38	chr5:179012600-179023000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:179012600-179032200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:179012600-179032200	Strong transcription	Liver	Liver
41	chr5:179012600-179037600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:179012600-179047000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr5:179012800-179023400	Strong transcription	A549	lung
44	chr5:179012800-179031000	Strong transcription	Spleen	Spleen
45	chr5:179012800-179031600	Strong transcription	Adipose Nuclei	Adipose
46	chr5:179012800-179032400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:179012800-179034600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:179012800-179039000	Strong transcription	Left Ventricle	heart
49	chr5:179012800-179040000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr5:179013000-179024400	Strong transcription	Sigmoid Colon	Sigmoid Colon

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