Variant report

Variant	rs62388715
Chromosome Location	chr5:177644940-177644941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1366223	0.98[ASN][1000 genomes]
rs2913746	0.95[ASN][1000 genomes]
rs2913863	0.93[ASN][1000 genomes]
rs2913868	0.95[ASN][1000 genomes]
rs2961678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961683	0.93[ASN][1000 genomes]
rs3812089	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
5	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
7	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	esv3425423	chr5:177643496-177648394	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177634000-177650800	Strong transcription	Placenta	Placenta
2	chr5:177634400-177654200	Strong transcription	Fetal Stomach	stomach
3	chr5:177634600-177646000	Strong transcription	Thymus	Thymus
4	chr5:177634800-177645800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:177635000-177647000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:177635000-177650200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:177635000-177650400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:177635000-177650400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:177635000-177650400	Strong transcription	Adipose Nuclei	Adipose
10	chr5:177635200-177645400	Strong transcription	Fetal Brain Female	brain
11	chr5:177635200-177646000	Strong transcription	NH-A	brain
12	chr5:177635400-177646200	Strong transcription	Osteobl	bone
13	chr5:177635400-177646400	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr5:177635400-177649200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:177635400-177651000	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:177635800-177657000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:177636000-177648000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:177636000-177654000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:177639400-177657600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:177640000-177648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:177640000-177650400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:177640400-177655600	Weak transcription	Right Atrium	heart
23	chr5:177640800-177645400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:177641000-177650800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:177641600-177648400	Weak transcription	Small Intestine	intestine
26	chr5:177642000-177645800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:177642600-177646200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:177642600-177654200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:177642800-177647600	Weak transcription	K562	blood
30	chr5:177642800-177648200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr5:177643000-177645400	Weak transcription	Hela-S3	cervix
32	chr5:177643000-177646600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:177643000-177647800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr5:177643000-177648200	Weak transcription	Colonic Mucosa	Colon
35	chr5:177643200-177648000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr5:177643200-177648200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:177643200-177651000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr5:177643400-177645800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:177643400-177647600	Strong transcription	Primary T cells from cord blood	blood
40	chr5:177643400-177647600	Strong transcription	Fetal Intestine Small	intestine
41	chr5:177643400-177648400	Weak transcription	Gastric	stomach
42	chr5:177643400-177649400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:177643400-177650200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:177643400-177650600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:177643400-177651600	Weak transcription	HSMMtube	muscle
46	chr5:177643400-177656400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:177643600-177647400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr5:177643600-177648200	Weak transcription	Brain Angular Gyrus	brain
49	chr5:177643600-177649600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:177643600-177650400	Weak transcription	Fetal Heart	heart

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