Variant report

Variant	rs4128178
Chromosome Location	chr5:95410393-95410394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr5:95410216-95410503	HepG2	liver:	n/a	n/a
2	MAFK	chr5:95410264-95410495	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:95403553..95405838-chr5:95406923..95410499,3	K562	blood:
2	chr5:95408738..95411394-chr5:95414154..95415888,2	MCF-7	breast:
3	chr5:95401885..95403759-chr5:95409386..95411340,2	K562	blood:
4	chr5:95408446..95411161-chr5:95411273..95412980,2	K562	blood:

Variant related genes	Relation type
MIR583	TF binding region
ENSG00000207578	Chromatin interaction

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

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

rs_ID	r²[population]
rs10056771	0.81[CEU][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10079268	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10085034	0.81[CEU][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11740207	0.85[EUR][1000 genomes]
rs11949461	0.85[EUR][1000 genomes]
rs11951463	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11956456	0.85[EUR][1000 genomes]
rs11960219	0.85[EUR][1000 genomes]
rs13155375	0.81[CEU][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13172783	0.81[CEU][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13186419	0.86[EUR][1000 genomes]
rs1389827	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1870270	0.89[EUR][1000 genomes]
rs2067498	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4077350	0.82[EUR][1000 genomes]
rs4270717	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4367316	0.80[EUR][1000 genomes]
rs4416625	0.81[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4479864	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4513721	0.85[EUR][1000 genomes]
rs4869256	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[LWK][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4869258	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869259	0.85[EUR][1000 genomes]
rs4869260	0.85[EUR][1000 genomes]
rs4869264	0.80[EUR][1000 genomes]
rs4869266	0.83[EUR][1000 genomes]
rs4998057	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6556899	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6556900	0.87[EUR][1000 genomes]
rs66683317	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6866723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6873504	0.85[EUR][1000 genomes]
rs6879658	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6879847	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6884999	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6886983	0.82[EUR][1000 genomes]
rs6889697	0.85[EUR][1000 genomes]
rs6894768	0.85[EUR][1000 genomes]
rs6895121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6895146	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7341111	0.85[EUR][1000 genomes]
rs7700425	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7702346	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7702646	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7710337	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7715650	0.80[EUR][1000 genomes]
rs7717351	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7734224	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs7734985	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs9314163	0.88[EUR][1000 genomes]
rs9314164	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9314165	0.85[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95401600-95416400	Weak transcription	Psoas Muscle	Psoas
2	chr5:95402000-95410600	Weak transcription	Stomach Mucosa	stomach
3	chr5:95402600-95410600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:95402600-95423800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:95404400-95416800	Weak transcription	Aorta	Aorta
6	chr5:95404800-95411600	Weak transcription	NHDF-Ad	bronchial
7	chr5:95406600-95410400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:95406800-95414800	Weak transcription	NHLF	lung
9	chr5:95407200-95410400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:95407200-95410400	Weak transcription	NHEK	skin
11	chr5:95407200-95411600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:95408200-95416600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:95408600-95413200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:95408800-95410400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:95409400-95410800	Weak transcription	HSMMtube	muscle
16	chr5:95409600-95411600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:95409600-95416400	Weak transcription	Gastric	stomach
18	chr5:95410000-95410400	Enhancers	A549	lung
19	chr5:95410000-95410600	Enhancers	Hela-S3	cervix
20	chr5:95410000-95412000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:95410000-95412200	Enhancers	HMEC	breast
22	chr5:95410000-95412400	Enhancers	HepG2	liver
23	chr5:95410200-95410400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:95410200-95410400	Enhancers	Small Intestine	intestine
25	chr5:95410200-95410800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:95410200-95411200	Enhancers	Dnd41	blood
27	chr5:95410200-95411600	Enhancers	HSMM	muscle
28	chr5:95410200-95411600	Enhancers	HUVEC	blood vessel
29	chr5:95410200-95412000	Enhancers	Osteobl	bone
30	chr5:95410200-95412400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:95410200-95412600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:95410200-95412600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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