Variant report

Variant	rs4270717
Chromosome Location	chr5:95413899-95413900
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:95413861-95413911	GM12891	blood:	n/a
2	chr5:95413871-95413921	H1-hESC	embryonic stem cell:	embryo
3	chr5:95413861-95413911	Caco-2	colon:	n/a
4	chr5:95413861-95413911	RPTEC	kidney:	n/a
5	chr5:95413861-95413911	AG04450	lung:	fetal
6	chr5:95413861-95413911	T-47D	breast:	n/a
7	chr5:95413861-95413911	SK-N-SH_RA	brain:	n/a
8	chr5:95413861-95413911	GM06990	blood:	n/a
9	chr5:95413871-95413921	Hela-S3	cervix:	n/a
10	chr5:95413871-95413921	NH-A	brain:	n/a
11	chr5:95413861-95413911	LNCaP	prostate:	n/a
12	chr5:95413861-95413911	HIPEpiC	eye:	n/a
13	chr5:95413861-95413911	BE2_C	brain:	n/a
14	chr5:95413871-95413921	K562	blood:	n/a
15	chr5:95413871-95413921	T-47D	breast:	n/a
16	chr5:95413871-95413921	HepG2	liver:	n/a
17	chr5:95413861-95413911	SK-N-MC	brain:	n/a
18	chr5:95413871-95413921	HCPEpiC	choroid plexus:	n/a
19	chr5:95413871-95413921	Hepatocyte	liver:	n/a
20	chr5:95413871-95413921	AG10803	skin:	n/a
21	chr5:95413871-95413921	ECC-1	luminal epithelium:	n/a
22	chr5:95413861-95413911	SAEC	small airway:	n/a
23	chr5:95413861-95413911	HRCEpiC	kidney:	n/a
24	chr5:95413861-95413911	AG09309	skin:	n/a
25	chr5:95413861-95413911	SK-N-SH	brain:	n/a
26	chr5:95413861-95413911	Jurkat	blood:	n/a
27	chr5:95413871-95413921	SK-N-MC	brain:	n/a
28	chr5:95413861-95413911	AoSMC	blood vessel:	n/a
29	chr5:95413861-95413911	ECC-1	luminal epithelium:	n/a
30	chr5:95413861-95413911	HepG2	liver:	n/a
31	chr5:95413861-95413911	K562	blood:	n/a
32	chr5:95413861-95413911	HCM	heart:	n/a
33	chr5:95413861-95413911	GM19239	blood:	n/a
34	chr5:95413871-95413921	IMR90	lung:	fetal
35	chr5:95413861-95413911	SKMC	muscle:	n/a
36	chr5:95413861-95413911	HNPCEpiC	eye:	n/a
37	chr5:95413871-95413921	HPAEpiC	pulmonary alveolar:	n/a
38	chr5:95413871-95413921	HRE	kidney:	n/a
39	chr5:95413871-95413921	HRCEpiC	kidney:	n/a
40	chr5:95413861-95413911	NHDF-neo	bronchial:	n/a
41	chr5:95413871-95413921	PFSK-1	brain:	n/a
42	chr5:95413861-95413911	H1-hESC	embryonic stem cell:	embryo
43	chr5:95413871-95413921	Caco-2	colon:	n/a
44	chr5:95413871-95413921	AG04450	lung:	fetal
45	chr5:95413861-95413911	PFSK-1	brain:	n/a
46	chr5:95413861-95413911	NT2-D1	testis:	n/a
47	chr5:95413861-95413911	HCPEpiC	choroid plexus:	n/a
48	chr5:95413871-95413921	GM12891	blood:	n/a
49	chr5:95413871-95413921	BE2_C	brain:	n/a
50	chr5:95413871-95413921	BJ	skin:	n/a

No data

Variant related genes	Relation type
MIR583	CpG island

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10056771	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10079268	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10085034	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11740207	0.83[EUR][1000 genomes]
rs11949461	0.84[EUR][1000 genomes]
rs11951463	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11956456	0.83[EUR][1000 genomes]
rs11960219	0.83[EUR][1000 genomes]
rs13155375	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13172783	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13186419	0.85[EUR][1000 genomes]
rs1389827	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1870270	0.86[EUR][1000 genomes]
rs2067498	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4077350	0.81[EUR][1000 genomes]
rs4128178	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4367316	0.85[ASN][1000 genomes]
rs4416625	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4479864	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4513721	0.83[EUR][1000 genomes]
rs4869256	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4869258	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4869259	0.83[EUR][1000 genomes]
rs4869260	0.83[EUR][1000 genomes]
rs4869264	0.85[ASN][1000 genomes]
rs4869266	0.82[EUR][1000 genomes]
rs4998057	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6556899	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6556900	0.84[EUR][1000 genomes]
rs66683317	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6866723	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6873504	0.84[EUR][1000 genomes]
rs6879658	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6879847	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6884999	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6886983	0.81[EUR][1000 genomes]
rs6889697	0.83[EUR][1000 genomes]
rs6894768	0.84[EUR][1000 genomes]
rs6895121	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6895146	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7341111	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7700425	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7702346	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7702646	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7710337	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7715650	0.85[ASN][1000 genomes]
rs7717351	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7734224	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7734985	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9314163	0.87[EUR][1000 genomes]
rs9314164	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95401600-95416400	Weak transcription	Psoas Muscle	Psoas
2	chr5:95402600-95423800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:95404400-95416800	Weak transcription	Aorta	Aorta
4	chr5:95406800-95414800	Weak transcription	NHLF	lung
5	chr5:95408200-95416600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:95409600-95416400	Weak transcription	Gastric	stomach
7	chr5:95410800-95416800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:95410800-95420400	Weak transcription	Stomach Mucosa	stomach
9	chr5:95411600-95414400	Weak transcription	HUVEC	blood vessel
10	chr5:95412000-95414200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:95412000-95420800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:95412200-95414400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:95412200-95414400	Weak transcription	HSMMtube	muscle
14	chr5:95412200-95417000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:95412400-95414400	Weak transcription	HSMM	muscle
16	chr5:95412400-95416400	Weak transcription	HepG2	liver
17	chr5:95413000-95415400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:95413000-95416800	Enhancers	NHEK	skin
19	chr5:95413000-95417000	Enhancers	A549	lung
20	chr5:95413000-95417600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:95413200-95414400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:95413200-95415600	Enhancers	Osteobl	bone
23	chr5:95413200-95417400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:95413200-95417400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:95413200-95417400	Enhancers	Hela-S3	cervix
26	chr5:95413200-95417600	Enhancers	HMEC	breast
27	chr5:95413200-95419800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:95413400-95414200	Weak transcription	NHDF-Ad	bronchial
29	chr5:95413400-95414600	Enhancers	Fetal Heart	heart
30	chr5:95413400-95416400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:95413400-95418200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:95413600-95417000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:95413800-95416000	Enhancers	NH-A	brain
34	chr5:95413800-95417600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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