Variant report

Variant	rs12111129
Chromosome Location	chr6:34774448-34774449
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34773262..34775486-chr6:34854504..34857220,2	K562	blood:
2	chr6:34759093..34761380-chr6:34773456..34776260,3	MCF-7	breast:
3	chr6:34773543..34776313-chr6:34779272..34782261,3	K562	blood:
4	chr6:34773906..34776367-chr6:34780573..34782825,3	MCF-7	breast:
5	chr6:34773594..34775363-chr6:34780371..34783229,3	K562	blood:

Variant related genes	Relation type
ENSG00000065060	Chromatin interaction
ENSG00000064999	Chromatin interaction
ENSG00000064995	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1018622	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1051115	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11961041	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11963234	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11966100	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11967912	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11968954	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11968972	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13193526	0.89[ASN][1000 genomes]
rs13195029	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13195361	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13195490	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13196785	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13196983	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13200792	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13205210	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13206245	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13208149	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13210470	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13212699	0.87[EUR][1000 genomes]
rs13213239	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13213288	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13213604	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13214596	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13215208	0.86[ASN][1000 genomes]
rs16895659	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2296361	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2296362	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2395603	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2395605	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28360525	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34261333	0.91[EUR][1000 genomes]
rs34355573	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34377413	0.92[EUR][1000 genomes]
rs34463942	0.92[EUR][1000 genomes]
rs34480956	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34681295	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34840245	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35081279	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35103554	0.87[EUR][1000 genomes]
rs35143960	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35186650	0.92[EUR][1000 genomes]
rs35195182	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35203657	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35285054	0.89[ASN][1000 genomes]
rs35369977	0.92[EUR][1000 genomes]
rs35444671	0.88[EUR][1000 genomes]
rs35744142	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35940001	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36026951	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3734261	0.92[ASN][1000 genomes]
rs3734266	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4438945	0.91[EUR][1000 genomes]
rs4646933	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6457792	0.84[ASN][1000 genomes]
rs6457796	0.80[ASN][1000 genomes]
rs6457797	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6457798	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66672772	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66926909	0.91[EUR][1000 genomes]
rs67622212	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67895864	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6904996	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6908462	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6909393	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6910824	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914031	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6914351	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6925175	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6926373	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6934741	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6941453	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71567467	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892238	0.82[ASN][1000 genomes]
rs72892286	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72910111	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72910167	0.90[EUR][1000 genomes]
rs7739385	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7743724	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7743949	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7749750	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7755354	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7758743	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7759412	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7759985	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7761391	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7763989	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7764126	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775947	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7776439	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs912717	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296133	0.95[ASN][1000 genomes]
rs9462002	0.83[EUR][1000 genomes]
rs9462003	0.84[EUR][1000 genomes]
rs9462027	0.92[ASN][1000 genomes]
rs9469852	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9469904	0.92[ASN][1000 genomes]
rs9968782	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[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
rs12111129	UHRF1BP1	cis	Muscle Skeletal	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34761400-34774600	Weak transcription	HSMMtube	muscle
2	chr6:34761400-34779200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:34761400-34779600	Weak transcription	Right Atrium	heart
4	chr6:34761400-34784200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:34761400-34787200	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:34761400-34789400	Weak transcription	Fetal Stomach	stomach
7	chr6:34761400-34789400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:34761400-34790800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:34761600-34784200	Weak transcription	Primary B cells from cord blood	blood
10	chr6:34761800-34784400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:34761800-34784800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:34762000-34788400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:34764000-34784400	Weak transcription	Fetal Intestine Large	intestine
14	chr6:34764000-34803800	Weak transcription	HSMM	muscle
15	chr6:34764200-34785000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:34764600-34777000	Weak transcription	Hela-S3	cervix
17	chr6:34764600-34787400	Weak transcription	Liver	Liver
18	chr6:34764800-34779000	Weak transcription	Stomach Mucosa	stomach
19	chr6:34765400-34782200	Weak transcription	K562	blood
20	chr6:34766000-34784400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:34766800-34778800	Weak transcription	HepG2	liver
22	chr6:34768200-34774800	Weak transcription	A549	lung
23	chr6:34768400-34774600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:34771000-34778800	Weak transcription	Fetal Intestine Small	intestine
25	chr6:34772600-34789400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:34773000-34775000	Weak transcription	GM12878-XiMat	blood
27	chr6:34773000-34778200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr6:34773200-34778400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:34773200-34791400	Weak transcription	Gastric	stomach
30	chr6:34773400-34779600	Weak transcription	Psoas Muscle	Psoas
31	chr6:34773800-34775600	Enhancers	Fetal Heart	heart
32	chr6:34774000-34775400	Enhancers	HMEC	breast
33	chr6:34774000-34775600	Enhancers	NHEK	skin
34	chr6:34774200-34774800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:34774200-34775400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:34774200-34775400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:34774200-34775600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:34774400-34774600	Enhancers	Pancreas	Pancrea
39	chr6:34774400-34774800	Enhancers	Left Ventricle	heart
40	chr6:34774400-34775400	Enhancers	Right Ventricle	heart
41	chr6:34774400-34775600	Enhancers	Adipose Nuclei	Adipose
42	chr6:34774400-34780800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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