Variant report

Variant	rs377228627
Chromosome Location	chr5:179945648-179945649
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	chr5:179944903..179947278-chr5:179974741..179976598,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv519380	chr5:179942395-179951574	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1810959	chr5:179945112-179997861	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 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	chr5:179923400-179946000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:179923600-179949800	Weak transcription	Gastric	stomach
3	chr5:179923600-179949800	Weak transcription	Psoas Muscle	Psoas
4	chr5:179923600-179957000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:179924000-179948000	Weak transcription	A549	lung
6	chr5:179924000-179949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:179924200-179949200	Weak transcription	Pancreas	Pancrea
8	chr5:179924200-179949600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:179924200-179950000	Weak transcription	Brain Angular Gyrus	brain
10	chr5:179924600-179949800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:179924600-179957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:179925800-179949200	Weak transcription	Left Ventricle	heart
13	chr5:179926000-179947600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:179926800-179948600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:179927000-179946000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:179927000-179947800	Weak transcription	NHEK	skin
17	chr5:179927000-179948000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:179927000-179954400	Weak transcription	Hela-S3	cervix
19	chr5:179927400-179945800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:179927400-179948200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:179927400-179948200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:179927400-179949200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:179927400-179949200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:179927400-179949600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:179928600-179945800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:179929000-179959200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:179929200-179945800	Weak transcription	Fetal Brain Female	brain
28	chr5:179931400-179946000	Weak transcription	Osteobl	bone
29	chr5:179933800-179950000	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:179933800-179959000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:179934200-179948400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:179934200-179949600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:179934200-179956600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:179935000-179951000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:179935200-179951400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:179935400-179946000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:179935400-179948000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:179935400-179948200	Weak transcription	Primary T cells from cord blood	blood
39	chr5:179936800-179949200	Weak transcription	Thymus	Thymus
40	chr5:179936800-179949600	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:179936800-179950000	Weak transcription	Fetal Stomach	stomach
42	chr5:179936800-179956200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:179937400-179948200	Weak transcription	Brain Anterior Caudate	brain
44	chr5:179938800-179956600	Weak transcription	HSMM	muscle
45	chr5:179939200-179948600	Weak transcription	Fetal Thymus	thymus
46	chr5:179939400-179947800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:179939600-179946000	Weak transcription	Primary B cells from cord blood	blood
48	chr5:179939600-179946200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:179941200-179946000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr5:179941800-179947800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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