Variant report

Variant	rs4689584
Chromosome Location	chr4:7061219-7061220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7055114..7059009-chr4:7059450..7062240,4	MCF-7	breast:
2	chr4:7058331..7067210-chr4:7067664..7073138,15	MCF-7	breast:
3	chr4:6875514..6877561-chr4:7059781..7061459,2	K562	blood:

Variant related genes	Relation type
ENSG00000109519	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28866276	0.81[EUR][1000 genomes]
rs41365350	1.00[GIH][hapmap]
rs41394850	1.00[GIH][hapmap]
rs41499144	1.00[GIH][hapmap]
rs4513569	1.00[MEX][hapmap]
rs4689574	1.00[CEU][hapmap]
rs4689583	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4689589	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6819148	1.00[GIH][hapmap]
rs9985704	1.00[MEX][hapmap]

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	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv878533	chr4:7032180-7063524	Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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
8	nsv4217	chr4:7035512-7080230	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	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	chr4:7046200-7068600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7046600-7062600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:7046800-7062000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:7047400-7062400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:7047800-7062200	Weak transcription	Hela-S3	cervix
6	chr4:7048000-7062800	Weak transcription	Fetal Kidney	kidney
7	chr4:7048600-7061400	Weak transcription	Small Intestine	intestine
8	chr4:7048600-7062600	Weak transcription	Fetal Brain Male	brain
9	chr4:7049400-7061400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:7049800-7066800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:7052200-7067000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:7052600-7066600	Strong transcription	Dnd41	blood
13	chr4:7052800-7066000	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr4:7053000-7066800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:7054400-7067000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:7054800-7065800	Strong transcription	Brain Germinal Matrix	brain
17	chr4:7054800-7067600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:7055000-7062200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:7055000-7067000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:7055000-7068200	Weak transcription	Fetal Heart	heart
21	chr4:7055200-7067200	Strong transcription	Primary T cells from cord blood	blood
22	chr4:7055200-7068400	Strong transcription	Fetal Stomach	stomach
23	chr4:7055400-7062600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr4:7055400-7063200	Weak transcription	Psoas Muscle	Psoas
25	chr4:7055400-7065200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:7055400-7067000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:7055400-7068200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:7055600-7061400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:7055600-7065800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr4:7055600-7066200	Strong transcription	Fetal Lung	lung
31	chr4:7055600-7067800	Strong transcription	Fetal Thymus	thymus
32	chr4:7055600-7068200	Strong transcription	Fetal Muscle Leg	muscle
33	chr4:7055600-7068200	Strong transcription	Placenta	Placenta
34	chr4:7055800-7066600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:7055800-7067000	Strong transcription	Adipose Nuclei	Adipose
36	chr4:7056000-7067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:7056200-7067200	Strong transcription	Lung	lung
38	chr4:7056400-7068200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:7057000-7068200	Strong transcription	Osteobl	bone
40	chr4:7057400-7064200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:7057400-7068400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:7057600-7067200	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr4:7057800-7067600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr4:7058200-7062000	Weak transcription	Colonic Mucosa	Colon
45	chr4:7058200-7062800	Weak transcription	Stomach Mucosa	stomach
46	chr4:7058600-7061400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:7058800-7061400	Weak transcription	Esophagus	oesophagus
48	chr4:7058800-7061400	Weak transcription	Pancreas	Pancrea
49	chr4:7058800-7061400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr4:7058800-7061400	Weak transcription	Spleen	Spleen

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