Variant report

Variant	rs73771827
Chromosome Location	chr5:95299255-95299256
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95260360..95261946-chr5:95297991..95299734,2	K562	blood:
2	chr5:95297972..95300750-chr5:95328029..95330073,2	K562	blood:
3	chr5:95294835..95302887-chr5:95306601..95313873,11	K562	blood:

Variant related genes	Relation type
ENSG00000213716	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10428657	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10428702	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10515233	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515234	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948037	1.00[EUR][1000 genomes]
rs12514472	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12514954	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12517786	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522489	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12523306	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085220	1.00[EUR][1000 genomes]
rs17085223	1.00[EUR][1000 genomes]
rs17085224	1.00[EUR][1000 genomes]
rs17085227	1.00[EUR][1000 genomes]
rs17085243	1.00[EUR][1000 genomes]
rs17085339	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17085366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085373	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085393	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085426	1.00[EUR][1000 genomes]
rs28521883	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777174	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3777176	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3777177	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3777180	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41276261	1.00[EUR][1000 genomes]
rs55763081	1.00[EUR][1000 genomes]
rs56776515	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58389685	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60908902	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61268106	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6143071	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6556897	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861075	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870388	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6872006	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874371	1.00[EUR][1000 genomes]
rs6891082	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891633	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893788	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700606	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724475	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736480	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9687631	1.00[EUR][1000 genomes]
rs977128	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977129	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95298200-95299600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:95298400-95299600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:95298400-95299800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:95298400-95301600	Weak transcription	Fetal Intestine Small	intestine
5	chr5:95298400-95309200	Weak transcription	NHLF	lung
6	chr5:95298600-95299600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:95298600-95300000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr5:95298600-95300000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:95298600-95300000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:95298600-95300000	Enhancers	HMEC	breast
11	chr5:95298600-95300000	Enhancers	K562	blood
12	chr5:95298600-95300200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:95298600-95300200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:95298600-95300200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:95298600-95300400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:95298600-95300600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:95298600-95301400	Weak transcription	A549	lung
18	chr5:95298600-95302000	Weak transcription	Fetal Intestine Large	intestine
19	chr5:95298600-95305000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:95298600-95305200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:95298800-95299600	Weak transcription	Liver	Liver
22	chr5:95298800-95300000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:95298800-95300000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:95298800-95300000	Enhancers	NHEK	skin
25	chr5:95298800-95300600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:95298800-95300600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr5:95298800-95301400	Weak transcription	Stomach Mucosa	stomach
28	chr5:95298800-95302000	Weak transcription	Gastric	stomach
29	chr5:95298800-95322600	Weak transcription	Pancreas	Pancrea
30	chr5:95299200-95299800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:95299200-95300000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr5:95299200-95300200	Weak transcription	HepG2	liver
33	chr5:95299200-95300400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:95299200-95300600	Enhancers	Primary T helper cells PMA-I stimulated	--

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