Variant report

Variant	rs28360525
Chromosome Location	chr6:34891038-34891039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34884853..34887138-chr6:34887416..34892086,4	K562	blood:
2	chr6:34887280..34889976-chr6:34890282..34893090,2	K562	blood:
3	chr6:34855243..34858373-chr6:34889287..34893128,3	K562	blood:

Variant related genes	Relation type
ENSG00000064995	Chromatin interaction
ENSG00000064999	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1018622	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1051115	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11961041	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11963234	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11966100	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11967912	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11968954	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11968972	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12111129	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13193526	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13195029	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13195361	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13195490	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13196367	0.81[ASN][1000 genomes]
rs13196785	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13196983	0.82[EUR][1000 genomes]
rs13200792	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13205210	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13206245	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13208149	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13210470	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13212699	0.81[EUR][1000 genomes]
rs13213239	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13213288	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13213604	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13214596	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13215208	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16895659	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177380	0.81[ASN][1000 genomes]
rs2296361	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2296362	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2395603	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395605	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34261333	0.85[EUR][1000 genomes]
rs34355573	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34377413	0.86[EUR][1000 genomes]
rs34463942	0.86[EUR][1000 genomes]
rs34480956	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34681295	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34840245	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35081279	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35103554	0.81[EUR][1000 genomes]
rs35143960	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35186650	0.86[EUR][1000 genomes]
rs35195182	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35203657	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35285054	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35369977	0.86[EUR][1000 genomes]
rs35444671	0.82[EUR][1000 genomes]
rs35576171	0.82[ASN][1000 genomes]
rs35744142	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35940001	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36026951	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3734261	0.92[ASN][1000 genomes]
rs3734266	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4438945	0.85[EUR][1000 genomes]
rs4646933	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57844307	0.81[ASN][1000 genomes]
rs6457796	0.80[ASN][1000 genomes]
rs6457797	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6457798	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66672772	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66926909	0.85[EUR][1000 genomes]
rs67622212	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67895864	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6904996	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6908462	0.81[EUR][1000 genomes]
rs6909393	0.81[EUR][1000 genomes]
rs6910824	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6914031	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6914351	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6925175	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6926373	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6934741	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6941453	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71567467	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72892238	0.82[ASN][1000 genomes]
rs72892286	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72910167	0.84[EUR][1000 genomes]
rs7739385	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743724	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7743949	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7749750	0.81[EUR][1000 genomes]
rs7755354	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7758743	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7759985	0.81[EUR][1000 genomes]
rs7761391	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7764126	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7775947	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7776439	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs912717	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9296133	0.90[ASN][1000 genomes]
rs9462027	0.92[ASN][1000 genomes]
rs9469852	0.81[EUR][1000 genomes]
rs9469904	0.92[ASN][1000 genomes]
rs9968782	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28360525	UHRF1BP1	cis	Muscle Skeletal	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34872400-34907200	Weak transcription	Small Intestine	intestine
2	chr6:34874400-34893200	Weak transcription	Fetal Intestine Large	intestine
3	chr6:34874800-34896000	Weak transcription	Brain Anterior Caudate	brain
4	chr6:34877800-34892200	Weak transcription	Brain Angular Gyrus	brain
5	chr6:34877800-34921000	Weak transcription	Pancreas	Pancrea
6	chr6:34878000-34891400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:34878000-34896400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:34879600-34892200	Weak transcription	Fetal Intestine Small	intestine
9	chr6:34879600-34892200	Weak transcription	Fetal Kidney	kidney
10	chr6:34879600-34893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:34879600-34896800	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:34879800-34891800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:34879800-34893000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:34880800-34893400	Weak transcription	Fetal Thymus	thymus
15	chr6:34881000-34898000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:34881200-34893000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:34881200-34928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:34881400-34896600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:34881400-34902800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:34881600-34891800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:34885200-34894400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:34885600-34894400	Weak transcription	Placenta	Placenta
23	chr6:34885800-34892600	Weak transcription	Liver	Liver
24	chr6:34885800-34895400	Weak transcription	Gastric	stomach
25	chr6:34885800-34902200	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:34885800-34902400	Weak transcription	Fetal Stomach	stomach
27	chr6:34886000-34891200	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:34886000-34891400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:34886000-34891600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:34886200-34892400	Weak transcription	HepG2	liver
31	chr6:34886400-34891800	Weak transcription	Fetal Lung	lung
32	chr6:34886400-34893000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:34886400-34902400	Weak transcription	Aorta	Aorta
34	chr6:34886400-34902600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr6:34886400-34923400	Weak transcription	Primary T cells from cord blood	blood
36	chr6:34887000-34902800	Weak transcription	Lung	lung
37	chr6:34887400-34892200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:34887400-34895400	Weak transcription	Ovary	ovary
39	chr6:34887400-34902400	Weak transcription	Psoas Muscle	Psoas
40	chr6:34887600-34894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:34887600-34894000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:34887600-34894400	Weak transcription	NHLF	lung
43	chr6:34887600-34902600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:34887800-34891600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:34887800-34894000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:34887800-34894200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:34887800-34894400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:34887800-34895400	Weak transcription	Right Atrium	heart
49	chr6:34887800-34895800	Weak transcription	Fetal Heart	heart
50	chr6:34887800-34896000	Weak transcription	Spleen	Spleen

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