Variant report

Variant	rs73417752
Chromosome Location	chr6:34750246-34750247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34749563..34752462-chr6:34755786..34758475,3	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1125342	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16894102	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16894945	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16894995	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1964810	0.80[EUR][1000 genomes]
rs2236392	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2764199	0.82[ASN][1000 genomes]
rs2764200	0.80[ASN][1000 genomes]
rs2814954	0.81[ASN][1000 genomes]
rs2814965	0.89[ASN][1000 genomes]
rs3734260	0.85[ASN][1000 genomes]
rs3734263	0.84[ASN][1000 genomes]
rs3736896	0.92[ASN][1000 genomes]
rs3777751	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3798349	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3798351	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3800447	0.80[EUR][1000 genomes]
rs3800455	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3800456	0.82[ASN][1000 genomes]
rs41438444	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56825685	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56842618	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56987113	0.88[EUR][1000 genomes]
rs57338415	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57637041	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57645599	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57916801	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58643640	0.88[EUR][1000 genomes]
rs58654146	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58817410	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58833137	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59014029	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59851773	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59884600	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59952325	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60410089	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60439875	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60754257	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6939345	0.92[ASN][1000 genomes]
rs73413893	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73415706	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73415742	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73415758	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73415760	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73415779	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73415781	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73417786	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73419615	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73419643	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73419650	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73419656	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73419658	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73419660	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73419689	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7752237	0.81[ASN][1000 genomes]
rs7772600	0.84[ASN][1000 genomes]
rs9296126	0.82[ASN][1000 genomes]
rs9380451	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73417752	UHRF1BP1	cis	Thyroid	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34737400-34758800	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:34741200-34758600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:34741400-34759000	Weak transcription	Ovary	ovary
4	chr6:34741600-34758800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:34742000-34758600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:34742000-34759000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:34742000-34759000	Weak transcription	Fetal Lung	lung
8	chr6:34742600-34750400	Weak transcription	Hela-S3	cervix
9	chr6:34742800-34750400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:34742800-34759000	Weak transcription	Left Ventricle	heart
11	chr6:34743200-34751200	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:34743200-34751800	Weak transcription	Brain Germinal Matrix	brain
13	chr6:34743200-34754000	Weak transcription	HSMMtube	muscle
14	chr6:34743200-34758000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:34743200-34758600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr6:34743200-34758800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:34743200-34758800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:34743400-34759000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:34743400-34759000	Weak transcription	Aorta	Aorta
20	chr6:34743600-34755400	Weak transcription	HepG2	liver
21	chr6:34743600-34758600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr6:34743600-34758600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr6:34743800-34751400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:34743800-34758400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:34743800-34758400	Weak transcription	K562	blood
26	chr6:34743800-34758600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:34743800-34758800	Weak transcription	Primary B cells from cord blood	blood
28	chr6:34743800-34758800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:34743800-34758800	Weak transcription	Adipose Nuclei	Adipose
30	chr6:34743800-34758800	Weak transcription	Brain Anterior Caudate	brain
31	chr6:34743800-34758800	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:34743800-34758800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr6:34743800-34758800	Weak transcription	Osteobl	bone
34	chr6:34743800-34759000	Weak transcription	HSMM	muscle
35	chr6:34744000-34751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:34744000-34758800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:34744200-34758600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr6:34744200-34759000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:34744400-34753400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:34744800-34758800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:34745000-34754600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:34745000-34758600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr6:34745000-34758800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:34745200-34758600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:34745400-34750800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:34745400-34758600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr6:34746600-34752600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:34746600-34758800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:34747000-34758600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:34747000-34758800	Weak transcription	Primary T cells from cord blood	blood

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