Variant report

Variant	rs73419607
Chromosome Location	chr6:34779065-34779066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34769066..34771587-chr6:34778054..34780112,2	K562	blood:
2	chr6:34776624..34779636-chr6:34782424..34785536,4	K562	blood:
3	chr6:34779065..34780836-chr6:34797089..34799244,2	K562	blood:
4	chr6:34777807..34780694-chr6:34854623..34856918,3	MCF-7	breast:
5	chr6:34759998..34762126-chr6:34777640..34780581,3	MCF-7	breast:
6	chr6:34662430..34663990-chr6:34776772..34779550,2	MCF-7	breast:
7	chr6:34772137..34774417-chr6:34775291..34779142,3	K562	blood:

Variant related genes	Relation type
ENSG00000064995	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11756392	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759235	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555773	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16894959	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883638	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395607	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764203	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764204	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2764205	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814948	0.83[EUR][1000 genomes]
rs2814960	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814962	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28567450	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4472337	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56693020	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59142559	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60643641	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61431557	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457790	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911549	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936177	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6938239	0.86[EUR][1000 genomes]
rs6939345	0.87[AFR][1000 genomes]
rs73419621	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755822	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762485	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296130	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462012	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9462014	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9462016	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462025	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462029	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469860	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469864	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469881	0.92[AFR][1000 genomes]
rs9469890	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469895	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469897	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469900	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469907	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469910	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469911	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469913	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9654581	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9688715	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv885795	chr6:34704613-34823187	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1028363	chr6:34733071-34859045	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv885796	chr6:34739726-34823187	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv1015792	chr6:34741917-34887316	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv1021733	chr6:34751052-34887316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73419607	UHRF1BP1	cis	Whole Blood	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34761400-34779200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:34761400-34779600	Weak transcription	Right Atrium	heart
3	chr6:34761400-34784200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:34761400-34787200	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:34761400-34789400	Weak transcription	Fetal Stomach	stomach
6	chr6:34761400-34789400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:34761400-34790800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:34761600-34784200	Weak transcription	Primary B cells from cord blood	blood
9	chr6:34761800-34784400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:34761800-34784800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:34762000-34788400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:34764000-34784400	Weak transcription	Fetal Intestine Large	intestine
13	chr6:34764000-34803800	Weak transcription	HSMM	muscle
14	chr6:34764200-34785000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:34764600-34787400	Weak transcription	Liver	Liver
16	chr6:34765400-34782200	Weak transcription	K562	blood
17	chr6:34766000-34784400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:34772600-34789400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:34773200-34791400	Weak transcription	Gastric	stomach
20	chr6:34773400-34779600	Weak transcription	Psoas Muscle	Psoas
21	chr6:34774400-34780800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:34774800-34779200	Weak transcription	Left Ventricle	heart
23	chr6:34775400-34780400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:34775400-34787200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:34775400-34787200	Weak transcription	Right Ventricle	heart
26	chr6:34775400-34802400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:34775600-34780800	Weak transcription	Adipose Nuclei	Adipose
28	chr6:34776600-34789600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:34777000-34779400	Enhancers	Hela-S3	cervix
30	chr6:34777400-34779400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:34777400-34779400	Enhancers	HUVEC	blood vessel
32	chr6:34777800-34779200	Enhancers	A549	lung
33	chr6:34777800-34779400	Enhancers	NH-A	brain
34	chr6:34777800-34779600	Enhancers	NHEK	skin
35	chr6:34777800-34789000	Weak transcription	Primary T cells from cord blood	blood
36	chr6:34778000-34779400	Enhancers	HMEC	breast
37	chr6:34778000-34779600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:34778000-34779600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:34778600-34779200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:34778600-34779200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:34778600-34787200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:34778800-34779200	Weak transcription	Pancreas	Pancrea
43	chr6:34778800-34779400	Enhancers	Fetal Heart	heart
44	chr6:34778800-34779800	Enhancers	Fetal Intestine Small	intestine
45	chr6:34778800-34779800	Flanking Active TSS	GM12878-XiMat	blood
46	chr6:34778800-34779800	Enhancers	HepG2	liver
47	chr6:34778800-34780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr6:34779000-34779600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr6:34779000-34780400	Enhancers	Stomach Mucosa	stomach

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