Variant report

Variant	rs4998057
Chromosome Location	chr5:95404547-95404548
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95268077..95269800-chr5:95402716..95405377,2	K562	blood:
2	chr5:95192803..95195845-chr5:95402156..95405628,4	K562	blood:
3	chr5:95296442..95299221-chr5:95402366..95405358,3	K562	blood:
4	chr5:95394397..95397979-chr5:95402204..95405493,4	K562	blood:
5	chr5:95259027..95261912-chr5:95403568..95405178,2	K562	blood:
6	chr5:95403553..95405838-chr5:95406923..95410499,3	K562	blood:
7	chr5:95262626..95265334-chr5:95402014..95404790,2	K562	blood:
8	chr5:95395858..95398808-chr5:95403139..95405435,2	K562	blood:
9	chr5:95296782..95299195-chr5:95402497..95405358,3	K562	blood:
10	chr5:95385578..95387448-chr5:95403301..95405273,2	K562	blood:
11	chr5:95385578..95388383-chr5:95402339..95405273,2	K562	blood:
12	chr5:95401831..95405579-chr5:95411274..95417557,7	K562	blood:
13	chr5:95334613..95336349-chr5:95402257..95404926,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250551	Chromatin interaction
ENSG00000251314	Chromatin interaction
ENSG00000207578	Chromatin interaction
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10056771	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10079268	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10085034	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11740207	0.83[EUR][1000 genomes]
rs11949461	0.84[EUR][1000 genomes]
rs11951463	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11956456	0.83[EUR][1000 genomes]
rs11960219	0.83[EUR][1000 genomes]
rs13155375	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13172783	0.85[EUR][1000 genomes]
rs13186419	0.85[EUR][1000 genomes]
rs1389827	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1870270	0.90[EUR][1000 genomes]
rs2067498	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4077350	0.81[EUR][1000 genomes]
rs4128178	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4270717	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4416625	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4479864	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4513721	0.83[EUR][1000 genomes]
rs4869256	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4869258	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4869259	0.83[EUR][1000 genomes]
rs4869260	0.83[EUR][1000 genomes]
rs4869266	0.82[EUR][1000 genomes]
rs6556899	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556900	0.86[EUR][1000 genomes]
rs66683317	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866723	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6873504	0.84[EUR][1000 genomes]
rs6879658	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6879847	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6884999	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6886983	0.81[EUR][1000 genomes]
rs6889697	0.83[EUR][1000 genomes]
rs6894768	0.84[EUR][1000 genomes]
rs6895121	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6895146	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7341111	0.84[EUR][1000 genomes]
rs7700425	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7702346	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7702646	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7710337	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7717351	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7734224	0.84[EUR][1000 genomes]
rs7734985	0.84[EUR][1000 genomes]
rs9314163	0.89[EUR][1000 genomes]
rs9314164	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9314165	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv522097	chr5:95347786-95425199	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv522465	chr5:95347786-95425199	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95400600-95404800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:95400600-95404800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:95400600-95404800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:95400600-95404800	Enhancers	HMEC	breast
5	chr5:95401200-95404800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:95401400-95405000	Enhancers	NHLF	lung
7	chr5:95401600-95416400	Weak transcription	Psoas Muscle	Psoas
8	chr5:95402000-95406800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:95402000-95410600	Weak transcription	Stomach Mucosa	stomach
10	chr5:95402200-95406200	Weak transcription	Colonic Mucosa	Colon
11	chr5:95402200-95406200	Weak transcription	HepG2	liver
12	chr5:95402200-95406800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:95402600-95410600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:95402600-95423800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:95404000-95406200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:95404200-95404600	Weak transcription	HSMMtube	muscle
17	chr5:95404200-95404600	Enhancers	Osteobl	bone
18	chr5:95404200-95404800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:95404200-95404800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:95404200-95404800	Enhancers	HUVEC	blood vessel
21	chr5:95404200-95404800	Enhancers	NHDF-Ad	bronchial
22	chr5:95404200-95404800	Enhancers	NHEK	skin
23	chr5:95404200-95405000	Enhancers	Hela-S3	cervix
24	chr5:95404200-95405400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:95404200-95405600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:95404200-95405600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:95404200-95406000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:95404200-95406200	Weak transcription	Placenta	Placenta
29	chr5:95404200-95406400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:95404200-95410200	Weak transcription	Pancreas	Pancrea
31	chr5:95404200-95410200	Weak transcription	Small Intestine	intestine
32	chr5:95404400-95404800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:95404400-95406000	Weak transcription	A549	lung
34	chr5:95404400-95406200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:95404400-95408400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:95404400-95410200	Weak transcription	HSMM	muscle
37	chr5:95404400-95416800	Weak transcription	Aorta	Aorta

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