Variant report

Variant	rs80028537
Chromosome Location	chr17:45466559-45466560
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45463722..45466707-chr17:45470914..45473396,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	70 gene(s)	inside rSNPs	diseases
2	nsv1062096	chr17:45416538-45518683	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv470590	chr17:45419138-45547077	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1818362	chr17:45419139-45499396	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv457821	chr17:45419139-45547078	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv575462	chr17:45419139-45547078	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv908564	chr17:45422628-45522311	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1801088	chr17:45435575-45522311	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1056191	chr17:45442007-45519072	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1061628	chr17:45444530-45491469	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv543379	chr17:45444530-45491469	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv908565	chr17:45446158-45494645	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv1815649	chr17:45451894-45473107	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv908566	chr17:45465735-45569714	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45402200-45500800	Weak transcription	Aorta	Aorta
2	chr17:45411600-45468200	Weak transcription	Left Ventricle	heart
3	chr17:45450800-45470400	Weak transcription	Liver	Liver
4	chr17:45460600-45467400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:45460800-45466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr17:45461400-45466800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr17:45461400-45500400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr17:45461600-45475200	Weak transcription	Colon Smooth Muscle	Colon
9	chr17:45461600-45500600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr17:45461600-45500600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:45462600-45468000	Weak transcription	Fetal Muscle Leg	muscle
12	chr17:45463200-45466800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr17:45463400-45467800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:45463600-45470000	Weak transcription	Spleen	Spleen
15	chr17:45463600-45473400	Weak transcription	Fetal Brain Male	brain
16	chr17:45463800-45468200	Weak transcription	HepG2	liver
17	chr17:45463800-45468800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr17:45463800-45477800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr17:45464000-45470600	Weak transcription	Gastric	stomach
20	chr17:45464000-45481400	Weak transcription	Lung	lung
21	chr17:45464000-45487800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr17:45464200-45466600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr17:45464200-45496800	Weak transcription	Fetal Intestine Small	intestine
24	chr17:45464400-45477000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:45464400-45493800	Weak transcription	Ovary	ovary
26	chr17:45464600-45470000	Weak transcription	Fetal Stomach	stomach
27	chr17:45465600-45496800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr17:45465600-45500200	Weak transcription	Primary B cells from cord blood	blood
29	chr17:45465800-45468200	Weak transcription	Primary T cells from cord blood	blood
30	chr17:45465800-45470000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr17:45465800-45471800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:45466000-45467000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr17:45466000-45468400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr17:45466400-45466800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:45466400-45466800	Weak transcription	Right Ventricle	heart

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