Variant report

Variant	rs7700425
Chromosome Location	chr5:95407992-95407993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95403553..95405838-chr5:95406923..95410499,3	K562	blood:
2	chr5:95399534..95401780-chr5:95407826..95410205,2	K562	blood:

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[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10079268	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10085034	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11740207	0.85[EUR][1000 genomes]
rs11949461	0.85[EUR][1000 genomes]
rs11951463	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11956456	0.85[EUR][1000 genomes]
rs11960219	0.85[EUR][1000 genomes]
rs13155375	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13172783	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13186419	0.86[EUR][1000 genomes]
rs1389827	0.87[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]
rs4128178	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4270717	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4367316	0.80[EUR][1000 genomes]
rs4416625	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4479864	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4513721	0.85[EUR][1000 genomes]
rs4869256	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4869258	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6556899	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6556900	0.87[EUR][1000 genomes]
rs66683317	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6866723	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6873504	0.85[EUR][1000 genomes]
rs6879658	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6879847	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6884999	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6886983	0.82[EUR][1000 genomes]
rs6889697	0.85[EUR][1000 genomes]
rs6894768	0.85[EUR][1000 genomes]
rs6895121	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6895146	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7341111	0.85[EUR][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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7715650	0.80[EUR][1000 genomes]
rs7717351	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7734224	0.85[EUR][1000 genomes]
rs7734985	0.85[EUR][1000 genomes]
rs9314163	0.88[EUR][1000 genomes]
rs9314164	0.91[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:33 , 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	chr5:95404200-95410200	Weak transcription	Pancreas	Pancrea
6	chr5:95404200-95410200	Weak transcription	Small Intestine	intestine
7	chr5:95404400-95408400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:95404400-95410200	Weak transcription	HSMM	muscle
9	chr5:95404400-95416800	Weak transcription	Aorta	Aorta
10	chr5:95404600-95410200	Weak transcription	Osteobl	bone
11	chr5:95404800-95410200	Weak transcription	HUVEC	blood vessel
12	chr5:95404800-95411600	Weak transcription	NHDF-Ad	bronchial
13	chr5:95405200-95408200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:95406000-95408200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:95406000-95408400	Enhancers	HMEC	breast
16	chr5:95406200-95408400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:95406200-95409200	Enhancers	Fetal Thymus	thymus
18	chr5:95406600-95410400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:95406800-95410000	Weak transcription	A549	lung
20	chr5:95406800-95414800	Weak transcription	NHLF	lung
21	chr5:95407000-95408000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:95407000-95408000	Weak transcription	Dnd41	blood
23	chr5:95407000-95408400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:95407000-95410000	Weak transcription	HepG2	liver
25	chr5:95407000-95410200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:95407200-95410000	Weak transcription	Hela-S3	cervix
27	chr5:95407200-95410400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:95407200-95410400	Weak transcription	NHEK	skin
29	chr5:95407200-95411600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr5:95407400-95410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:95407400-95410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:95407800-95408200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:95407800-95408600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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