Variant report

Variant	rs111538260
Chromosome Location	chr5:179092994-179092995
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	chr5:179091330..179094019-chr5:179094233..179096513,3	K562	blood:
2	chr5:179037627..179040262-chr5:179091207..179093202,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv1021275	chr5:179056475-179104588	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1031352	chr5:179082461-179104588	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1023502	chr5:179086091-179105316	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv523946	chr5:179092141-179094108	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179085800-179099200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:179085800-179099400	Weak transcription	Aorta	Aorta
3	chr5:179085800-179103800	Weak transcription	GM12878-XiMat	blood
4	chr5:179085800-179104000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:179085800-179104200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:179085800-179104200	Weak transcription	A549	lung
7	chr5:179085800-179104600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:179085800-179104600	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:179085800-179104600	Weak transcription	Esophagus	oesophagus
10	chr5:179085800-179104600	Weak transcription	Fetal Kidney	kidney
11	chr5:179085800-179104800	Weak transcription	Right Ventricle	heart
12	chr5:179085800-179105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:179086000-179095000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:179086000-179095000	Weak transcription	Right Atrium	heart
15	chr5:179086000-179095200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:179086000-179095200	Weak transcription	K562	blood
17	chr5:179086000-179095400	Weak transcription	Fetal Thymus	thymus
18	chr5:179086000-179095400	Weak transcription	HMEC	breast
19	chr5:179086000-179103600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:179086000-179104000	Weak transcription	Fetal Brain Male	brain
21	chr5:179086000-179104400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:179086000-179104600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:179086000-179104600	Weak transcription	NHEK	skin
24	chr5:179086200-179095000	Weak transcription	HUVEC	blood vessel
25	chr5:179086200-179104200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:179086200-179104600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:179086200-179104800	Weak transcription	Brain Angular Gyrus	brain
28	chr5:179086800-179095200	Strong transcription	Fetal Stomach	stomach
29	chr5:179087000-179093600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:179087800-179093400	Strong transcription	Fetal Intestine Small	intestine
31	chr5:179088200-179093400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:179088600-179093400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:179089600-179093600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:179090000-179093200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:179090000-179093400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr5:179090000-179093400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:179090000-179093400	Strong transcription	Lung	lung
38	chr5:179090000-179093600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:179090200-179093000	Strong transcription	Adipose Nuclei	Adipose
40	chr5:179090200-179093200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:179090200-179093400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:179090200-179093400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:179090400-179093000	Strong transcription	Colon Smooth Muscle	Colon
44	chr5:179090400-179093000	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:179090400-179093400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:179090600-179093400	Strong transcription	Fetal Brain Female	brain
47	chr5:179090600-179097000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr5:179090800-179093400	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr5:179090800-179093400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:179090800-179093400	Strong transcription	Gastric	stomach

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