Variant report

Variant	rs182299280
Chromosome Location	chr5:179929258-179929259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179926447..179929444-chr5:180030197..180034087,3	MCF-7	breast:
2	chr5:179928152..179929958-chr6:152022823..152024616,2	MCF-7	breast:
3	chr5:179922992..179929395-chr5:179931202..179936163,8	K562	blood:
4	chr5:179929128..179931609-chr5:179936210..179937731,2	K562	blood:
5	chr5:179925134..179926691-chr5:179928454..179930583,2	K562	blood:
6	chr5:179926836..179929553-chr5:179936130..179939014,2	MCF-7	breast:
7	chr5:179928367..179929867-chr8:141667673..141670357,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1019519	chr5:179866730-179959408	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv968127	chr5:179929238-179931541	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179923000-179934600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:179923200-179936400	Weak transcription	Fetal Intestine Large	intestine
3	chr5:179923400-179946000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:179923600-179929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:179923600-179930400	Weak transcription	NHLF	lung
6	chr5:179923600-179931200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:179923600-179932800	Weak transcription	Right Ventricle	heart
8	chr5:179923600-179933400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:179923600-179933800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:179923600-179934400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:179923600-179934400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:179923600-179942000	Weak transcription	Spleen	Spleen
13	chr5:179923600-179949800	Weak transcription	Gastric	stomach
14	chr5:179923600-179949800	Weak transcription	Psoas Muscle	Psoas
15	chr5:179923600-179957000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:179923800-179931000	Weak transcription	Osteobl	bone
17	chr5:179923800-179932800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:179923800-179933000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr5:179923800-179934600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:179923800-179935400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:179923800-179941200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:179924000-179933000	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:179924000-179933400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:179924000-179934600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr5:179924000-179934600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:179924000-179935200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:179924000-179948000	Weak transcription	A549	lung
28	chr5:179924000-179949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:179924200-179933400	Weak transcription	Fetal Heart	heart
30	chr5:179924200-179949200	Weak transcription	Pancreas	Pancrea
31	chr5:179924200-179949600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:179924200-179950000	Weak transcription	Brain Angular Gyrus	brain
33	chr5:179924400-179933400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:179924600-179930000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:179924600-179930800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:179924600-179934000	Weak transcription	HSMM	muscle
37	chr5:179924600-179941600	Weak transcription	Brain Germinal Matrix	brain
38	chr5:179924600-179944800	Weak transcription	Fetal Brain Male	brain
39	chr5:179924600-179944800	Weak transcription	Fetal Lung	lung
40	chr5:179924600-179949800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:179924600-179957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:179924800-179932800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr5:179925000-179929400	Strong transcription	GM12878-XiMat	blood
44	chr5:179925000-179936200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:179925400-179929600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr5:179925600-179930800	Weak transcription	HepG2	liver
47	chr5:179925600-179933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:179925600-179933400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:179925600-179943800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:179925600-179945600	Weak transcription	Lung	lung

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