Variant report

Variant	rs4627952
Chromosome Location	chr5:179779607-179779608
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179778332..179781251-chr5:179920436..179923318,3	MCF-7	breast:
2	chr5:179758118..179760214-chr5:179779421..179781494,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113300	Chromatin interaction
ENSG00000131459	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13188590	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1559114	0.88[AFR][1000 genomes]
rs34236296	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34253331	0.93[AFR][1000 genomes]
rs34778234	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35605149	0.87[AFR][1000 genomes]
rs4566752	0.87[AFR][1000 genomes]
rs4572964	0.92[AMR][1000 genomes]
rs9686362	1.00[AMR][1000 genomes]
rs9686363	1.00[AMR][1000 genomes]
rs9687074	0.87[AFR][1000 genomes]

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	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
2	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
3	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
4	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
5	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv830563	chr5:179717693-179898609	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	nsv883291	chr5:179755559-179818868	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv984575	chr5:179759624-179791220	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3327832	chr5:179779171-179781719	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 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	chr5:179777800-179780600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr5:179777800-179781800	Enhancers	Fetal Heart	heart
3	chr5:179778000-179781400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:179778200-179780600	Active TSS	Colon Smooth Muscle	Colon
5	chr5:179778400-179780600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:179778400-179780600	Bivalent Enhancer	Fetal Brain Male	brain
7	chr5:179778600-179780200	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr5:179778600-179780200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
9	chr5:179778600-179780600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:179778800-179779800	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr5:179778800-179779800	Active TSS	Rectal Smooth Muscle	rectum
12	chr5:179778800-179780600	Active TSS	Left Ventricle	heart
13	chr5:179778800-179781400	Active TSS	Right Atrium	heart
14	chr5:179779000-179779800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:179779000-179779800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr5:179779000-179779800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:179779000-179779800	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr5:179779000-179779800	Active TSS	Gastric	stomach
19	chr5:179779000-179780600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:179779000-179780600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr5:179779000-179780600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr5:179779000-179781000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr5:179779000-179781000	Active TSS	NHDF-Ad	bronchial
24	chr5:179779000-179781200	Bivalent/Poised TSS	Psoas Muscle	Psoas
25	chr5:179779000-179781400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr5:179779000-179781400	Active TSS	Brain Angular Gyrus	brain
27	chr5:179779200-179779800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:179779200-179779800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr5:179779200-179779800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
30	chr5:179779200-179780200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
31	chr5:179779200-179780600	Active TSS	H1 Cell Line	embryonic stem cell
32	chr5:179779200-179780600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:179779200-179780600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr5:179779200-179780600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr5:179779200-179780600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:179779200-179780600	Active TSS	Brain Substantia Nigra	brain
37	chr5:179779200-179780600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
38	chr5:179779200-179780600	Active TSS	NH-A	brain
39	chr5:179779200-179781000	Active TSS	Fetal Kidney	kidney
40	chr5:179779200-179781000	Active TSS	A549	lung
41	chr5:179779200-179781000	Active TSS	Hela-S3	cervix
42	chr5:179779200-179781000	Active TSS	HSMM	muscle
43	chr5:179779200-179781000	Active TSS	HSMMtube	muscle
44	chr5:179779200-179781200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr5:179779200-179781200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:179779200-179781200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:179779200-179781200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:179779200-179781200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr5:179779200-179781200	Active TSS	Muscle Satellite Cultured Cells	--
50	chr5:179779200-179781200	Active TSS	Brain Cingulate Gyrus	brain

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