Variant report

Variant	rs7688059
Chromosome Location	chr4:48269866-48269867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48200101..48201896-chr4:48269773..48271789,2	K562	blood:
2	chr4:48253624..48256243-chr4:48267800..48270613,3	MCF-7	breast:
3	chr4:48264879..48267835-chr4:48269527..48271829,4	K562	blood:
4	chr4:48269261..48273807-chr4:48342628..48344865,6	K562	blood:

Variant related genes	Relation type
ENSG00000109171	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10433686	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10433724	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724334	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11732570	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11932069	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11934137	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12499189	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13143606	0.89[AMR][1000 genomes]
rs1509655	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs170145	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1828297	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1848742	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1912162	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2036766	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2136503	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2353304	0.80[EUR][1000 genomes]
rs2664024	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2664027	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2704409	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs309883	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs309891	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs309892	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs368292	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs373720	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs379323	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs430599	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4529022	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4694892	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56041079	0.82[EUR][1000 genomes]
rs56063319	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58166553	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58372912	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59349478	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59741528	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62309361	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62309362	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62311478	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62311498	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6447626	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6447627	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6836661	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6840958	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6852406	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6858850	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7657451	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7659044	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7665958	0.83[EUR][1000 genomes]
rs7666809	0.83[EUR][1000 genomes]
rs7693991	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv461357	chr4:48248258-48274152	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv594119	chr4:48248258-48274152	Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv461358	chr4:48251916-48274152	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	nsv594120	chr4:48251916-48274152	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48248800-48270600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:48251400-48270000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:48251800-48270200	Weak transcription	Fetal Intestine Large	intestine
4	chr4:48257400-48270600	Weak transcription	Right Ventricle	heart
5	chr4:48257400-48271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:48257400-48271200	Weak transcription	Esophagus	oesophagus
7	chr4:48257600-48271200	Weak transcription	Gastric	stomach
8	chr4:48258000-48270800	Weak transcription	Fetal Intestine Small	intestine
9	chr4:48258400-48270000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:48258400-48271200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:48263200-48270600	Weak transcription	Thymus	Thymus
12	chr4:48263800-48270600	Weak transcription	Primary B cells from cord blood	blood
13	chr4:48263800-48271200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:48265200-48271200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:48265400-48270000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:48267600-48271000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr4:48268200-48270800	Enhancers	Liver	Liver
18	chr4:48268800-48270600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:48269000-48270000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr4:48269000-48270200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
21	chr4:48269000-48270600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr4:48269200-48270000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:48269200-48270800	Flanking Active TSS	K562	blood
24	chr4:48269400-48270200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:48269400-48270200	Weak transcription	Small Intestine	intestine
26	chr4:48269600-48270000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:48269600-48270000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr4:48269600-48270000	Enhancers	Lung	lung
29	chr4:48269600-48270000	Enhancers	Pancreas	Pancrea
30	chr4:48269600-48270000	Enhancers	Spleen	Spleen
31	chr4:48269600-48270600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr4:48269600-48271000	Enhancers	Primary B cells from peripheral blood	blood
33	chr4:48269600-48271000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr4:48269600-48271600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr4:48269600-48271600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:48269800-48270400	Flanking Active TSS	GM12878-XiMat	blood
37	chr4:48269800-48271000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr4:48269800-48272800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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