Variant report

Variant	rs4976650
Chromosome Location	chr5:177048240-177048241
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	chr5:176981357..176984003-chr5:177046420..177048337,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146067	Chromatin interaction
ENSG00000272459	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10067122	0.85[AFR][1000 genomes]
rs28379386	1.00[AMR][1000 genomes]
rs28392715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28396982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28464438	1.00[AMR][1000 genomes]
rs28483466	1.00[AMR][1000 genomes]
rs28491669	1.00[AMR][1000 genomes]
rs28494836	1.00[AMR][1000 genomes]
rs28587302	1.00[AMR][1000 genomes]
rs28613023	1.00[AMR][1000 genomes]
rs28615269	1.00[AMR][1000 genomes]
rs28688891	1.00[AMR][1000 genomes]
rs28723606	1.00[AMR][1000 genomes]
rs337387	1.00[AMR][1000 genomes]
rs337399	1.00[AMR][1000 genomes]
rs388783	1.00[AMR][1000 genomes]
rs5013573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58021881	1.00[AMR][1000 genomes]
rs6600953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7444245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177028400-177048400	Weak transcription	NH-A	brain
2	chr5:177028600-177049000	Weak transcription	HUVEC	blood vessel
3	chr5:177028600-177053200	Weak transcription	HSMM	muscle
4	chr5:177029000-177054200	Weak transcription	Brain Substantia Nigra	brain
5	chr5:177034400-177048600	Weak transcription	A549	lung
6	chr5:177034800-177052200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:177035000-177051000	Weak transcription	Stomach Mucosa	stomach
8	chr5:177035000-177054200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:177035200-177053000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:177037000-177055200	Weak transcription	NHLF	lung
11	chr5:177038600-177054400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:177039400-177051400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:177041600-177050200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:177041600-177054400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr5:177043000-177048800	Strong transcription	Fetal Brain Female	brain
16	chr5:177043200-177048600	Strong transcription	Adipose Nuclei	Adipose
17	chr5:177043400-177050000	Strong transcription	Ovary	ovary
18	chr5:177043400-177052800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:177043600-177051800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:177043800-177049800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:177044000-177051400	Weak transcription	HMEC	breast
22	chr5:177044400-177048800	Strong transcription	Fetal Lung	lung
23	chr5:177044400-177049000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:177044400-177050000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:177044400-177061800	Weak transcription	Small Intestine	intestine
26	chr5:177044600-177049400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:177044600-177049800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr5:177044800-177048400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:177044800-177048400	Strong transcription	Thymus	Thymus
30	chr5:177044800-177049400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr5:177045000-177048600	Strong transcription	Fetal Muscle Leg	muscle
32	chr5:177045000-177050200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:177045000-177054200	Weak transcription	GM12878-XiMat	blood
34	chr5:177045200-177048400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:177045200-177049400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:177045600-177048600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr5:177046000-177052600	Weak transcription	Fetal Intestine Small	intestine
38	chr5:177046400-177055200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:177046400-177058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:177046600-177049600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr5:177046600-177049800	Weak transcription	NHEK	skin
42	chr5:177046600-177050000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:177046600-177051400	Weak transcription	Left Ventricle	heart
44	chr5:177046600-177053200	Weak transcription	HSMMtube	muscle
45	chr5:177046600-177054400	Weak transcription	Right Ventricle	heart
46	chr5:177046600-177055000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr5:177046600-177068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:177046600-177069200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr5:177046600-177069600	Weak transcription	Esophagus	oesophagus
50	chr5:177046800-177048400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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