Variant report

Variant	rs4693801
Chromosome Location	chr4:87932099-87932100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87867281..87868896-chr4:87929541..87932174,2	MCF-7	breast:
2	chr4:87929393..87932319-chr4:87992706..87994245,2	K562	blood:
3	chr4:87925144..87930778-chr4:87931161..87934688,7	MCF-7	breast:
4	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
5	chr4:87931438..87933105-chr4:87978302..87980723,2	K562	blood:
6	chr12:57480398..57483000-chr4:87931079..87932679,2	MCF-7	breast:
7	chr4:87929301..87933851-chr4:88000404..88005339,4	K562	blood:
8	chr4:87854689..87857093-chr4:87930959..87933070,3	MCF-7	breast:
9	chr4:87897075..87899882-chr4:87931733..87933801,2	K562	blood:
10	chr4:87832559..87834802-chr4:87929759..87932272,2	K562	blood:
11	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000235043	Chromatin interaction
ENSG00000166886	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10516785	0.86[ASN][1000 genomes]
rs10516786	0.86[ASN][1000 genomes]
rs10516788	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1471251	0.86[ASN][1000 genomes]
rs151451	0.85[AFR][1000 genomes]
rs17012170	0.81[ASN][1000 genomes]
rs17012200	0.87[ASN][1000 genomes]
rs17012213	0.87[ASN][1000 genomes]
rs17012216	0.86[ASN][1000 genomes]
rs17012234	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17604480	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17701999	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17752307	0.88[ASN][1000 genomes]
rs3775226	0.85[AFR][1000 genomes]
rs4693795	0.83[ASN][1000 genomes]
rs55787557	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55816619	0.82[AMR][1000 genomes]
rs55851914	0.86[ASN][1000 genomes]
rs55879154	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55913164	0.88[ASN][1000 genomes]
rs56023922	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56050898	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56201818	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56378441	0.84[ASN][1000 genomes]
rs56390363	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56395939	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56406125	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6819155	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6840258	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6854749	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72667735	0.87[ASN][1000 genomes]
rs72667736	0.87[ASN][1000 genomes]
rs72667737	0.87[ASN][1000 genomes]
rs72667739	0.87[ASN][1000 genomes]
rs72667741	0.84[ASN][1000 genomes]
rs72667747	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667748	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667750	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667751	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72667752	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72667753	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72667754	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72667757	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72667759	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72667765	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7665282	0.88[ASN][1000 genomes]
rs767315	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7682652	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7695426	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87927600-87932200	Active TSS	GM12878-XiMat	blood
2	chr4:87929200-87934200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:87929200-87939400	Weak transcription	Gastric	stomach
4	chr4:87929400-87946200	Weak transcription	Esophagus	oesophagus
5	chr4:87929600-87932200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:87929600-87932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:87929600-87933200	Enhancers	Brain Substantia Nigra	brain
8	chr4:87929600-87934000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:87929600-87935000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:87929600-87935400	Weak transcription	HSMM	muscle
11	chr4:87929600-87937000	Enhancers	Fetal Heart	heart
12	chr4:87929600-87938000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:87929600-87938800	Weak transcription	HSMMtube	muscle
14	chr4:87929800-87932400	Weak transcription	NH-A	brain
15	chr4:87929800-87932600	Enhancers	A549	lung
16	chr4:87929800-87933600	Enhancers	HepG2	liver
17	chr4:87929800-87936600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr4:87929800-87937000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:87930000-87932400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:87930000-87932400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:87930200-87932800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:87930200-87933000	Enhancers	Small Intestine	intestine
23	chr4:87930200-87933400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:87930400-87932400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:87930400-87932600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:87930600-87932400	Weak transcription	Osteobl	bone
27	chr4:87930600-87932600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:87930600-87934000	Enhancers	Fetal Intestine Small	intestine
29	chr4:87930600-87934400	Weak transcription	Pancreas	Pancrea
30	chr4:87930600-87934600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:87930600-87937000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:87930600-87940600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:87930600-87946800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:87930600-87950000	Weak transcription	Fetal Stomach	stomach
35	chr4:87930800-87932200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr4:87930800-87932200	Weak transcription	Colonic Mucosa	Colon
37	chr4:87930800-87932200	Weak transcription	NHLF	lung
38	chr4:87930800-87932400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:87930800-87932600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:87930800-87933800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:87930800-87934000	Enhancers	Fetal Intestine Large	intestine
42	chr4:87930800-87934200	Weak transcription	Lung	lung
43	chr4:87930800-87934800	Weak transcription	Right Atrium	heart
44	chr4:87930800-87935400	Enhancers	Adipose Nuclei	Adipose
45	chr4:87930800-87935600	Enhancers	Primary B cells from peripheral blood	blood
46	chr4:87930800-87940600	Weak transcription	Spleen	Spleen
47	chr4:87931000-87932200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr4:87931000-87932200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:87931000-87932200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:87931000-87932200	Weak transcription	Fetal Thymus	thymus

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