Variant report

Variant	rs550712704
Chromosome Location	chr5:179635668-179635669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179633482..179636303-chr5:179718045..179719781,2	K562	blood:

Variant related genes	Relation type
ENSG00000050748	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
2	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
4	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv883289	chr5:179597647-179639885	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3429077	chr5:179635146-179637594	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179634400-179636600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr5:179634600-179636800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:179634800-179635800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
4	chr5:179634800-179635800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
5	chr5:179634800-179635800	Flanking Bivalent TSS/Enh	Placenta	Placenta
6	chr5:179634800-179636000	Enhancers	Fetal Heart	heart
7	chr5:179634800-179636400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr5:179634800-179636600	Enhancers	Gastric	stomach
9	chr5:179634800-179636800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr5:179635000-179635800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:179635000-179635800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr5:179635000-179635800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr5:179635000-179635800	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr5:179635000-179635800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr5:179635000-179635800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
16	chr5:179635200-179635800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:179635200-179635800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr5:179635200-179635800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr5:179635200-179635800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
20	chr5:179635200-179635800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
21	chr5:179635200-179635800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:179635200-179635800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
23	chr5:179635200-179635800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:179635200-179635800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:179635200-179635800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:179635200-179635800	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr5:179635200-179635800	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr5:179635200-179635800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
29	chr5:179635200-179635800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr5:179635200-179635800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr5:179635200-179635800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr5:179635200-179636000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:179635200-179636800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr5:179635400-179635800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
35	chr5:179635400-179635800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:179635400-179635800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:179635400-179635800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:179635400-179635800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:179635400-179635800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:179635400-179635800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
41	chr5:179635400-179635800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
42	chr5:179635400-179635800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
43	chr5:179635400-179635800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:179635400-179635800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:179635400-179635800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:179635400-179635800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:179635400-179635800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:179635400-179635800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
49	chr5:179635400-179635800	Enhancers	Liver	Liver
50	chr5:179635400-179635800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon

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