Variant report

Variant	rs17245023
Chromosome Location	chr5:7909855-7909856
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	chr5:7908992..7910576-chr5:7919203..7920908,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11949523	0.88[EUR][1000 genomes]
rs12108985	0.89[EUR][1000 genomes]
rs13189728	0.88[EUR][1000 genomes]
rs13190084	0.88[EUR][1000 genomes]
rs17267737	0.89[EUR][1000 genomes]
rs2128266	0.89[EUR][1000 genomes]
rs34966478	0.89[EUR][1000 genomes]
rs62342527	0.88[EUR][1000 genomes]
rs62342530	0.89[EUR][1000 genomes]
rs9282787	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv508345	chr5:7890892-7933471	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr5:7878600-7911800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:7899600-7910000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:7899600-7912000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:7900000-7914600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:7902400-7910200	Weak transcription	Fetal Brain Male	brain
6	chr5:7902400-7910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:7902400-7911200	Weak transcription	Fetal Kidney	kidney
8	chr5:7902800-7911200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:7903400-7911000	Weak transcription	Fetal Thymus	thymus
10	chr5:7903600-7916000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:7903800-7913600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:7904000-7911400	Weak transcription	Small Intestine	intestine
13	chr5:7904200-7910800	Weak transcription	Thymus	Thymus
14	chr5:7904200-7912000	Weak transcription	Pancreas	Pancrea
15	chr5:7904200-7912200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:7904400-7911000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:7904400-7912400	Weak transcription	HMEC	breast
18	chr5:7904400-7915800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:7904800-7915400	Weak transcription	Osteobl	bone
20	chr5:7905000-7912000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:7906200-7916400	Weak transcription	NHEK	skin
22	chr5:7907000-7910000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr5:7907000-7910000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
24	chr5:7907000-7911400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:7907200-7910000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:7907200-7910200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:7907800-7910200	ZNF genes & repeats	Brain Anterior Caudate	brain
28	chr5:7908000-7910000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
29	chr5:7908600-7910000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:7908800-7915600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:7909000-7910400	ZNF genes & repeats	GM12878-XiMat	blood
32	chr5:7909000-7911200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:7909200-7910600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:7909200-7911200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:7909200-7911800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:7909400-7911600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:7909400-7912200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:7909400-7912400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:7909600-7910000	Weak transcription	Esophagus	oesophagus
40	chr5:7909600-7910000	Weak transcription	Ovary	ovary
41	chr5:7909600-7910000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:7909600-7910200	Strong transcription	Primary B cells from cord blood	blood
43	chr5:7909600-7910400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr5:7909600-7910600	Weak transcription	Right Ventricle	heart
45	chr5:7909600-7910800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:7909600-7910800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr5:7909600-7910800	Weak transcription	Brain Substantia Nigra	brain
48	chr5:7909600-7911000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr5:7909600-7911400	Weak transcription	Gastric	stomach
50	chr5:7909600-7911600	Weak transcription	Lung	lung

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