Variant report

Variant	rs4646949
Chromosome Location	chr6:34845449-34845450
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34844007..34846659-chr6:34861219..34864126,3	K562	blood:
2	chr6:34843479..34847323-chr6:34849401..34853884,4	MCF-7	breast:
3	chr6:34835870..34838689-chr6:34843706..34845674,2	K562	blood:
4	chr6:34842945..34852488-chr6:34852501..34858927,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064999	Chromatin interaction
ENSG00000064995	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10947536	0.88[GIH][hapmap]
rs11969436	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13219624	0.82[GIH][hapmap]
rs1535001	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1737727	0.88[GIH][hapmap]
rs1996912	0.90[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap]
rs2140418	0.88[GIH][hapmap]
rs2177381	0.88[GIH][hapmap]
rs2273006	0.84[GIH][hapmap]
rs2293242	0.88[GIH][hapmap]
rs2473615	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2820232	0.81[JPT][hapmap]
rs2820233	0.81[JPT][hapmap]
rs2820237	0.83[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs2985	0.84[GIH][hapmap]
rs3800458	0.85[CHB][hapmap]
rs3817473	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs3823438	0.81[JPT][hapmap]
rs4646926	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6912327	0.86[CEU][hapmap]
rs7753949	1.00[CEU][hapmap];0.90[CHB][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs847846	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.97[TSI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs847850	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847851	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847852	0.90[JPT][hapmap]
rs847859	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9296139	0.82[GIH][hapmap]
rs9380469	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9394248	0.95[CHB][hapmap];0.90[JPT][hapmap]

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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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

Variant related diseases (count:1)

Disease	PMID	Source
Fasting insulin-related traits (interaction with BMI)	22581228	GWAS catalog

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4646949	UHRF1BP1	cis	Artery Tibial	GTEx
rs4646949	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs4646949	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs4646949	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs4646949	PRDM7	trans	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34816800-34853600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:34817400-34851200	Strong transcription	Fetal Thymus	thymus
3	chr6:34818600-34853400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:34820200-34855000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:34821000-34854600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:34822800-34849400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr6:34823000-34851600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:34825800-34847600	Weak transcription	NHDF-Ad	bronchial
9	chr6:34830000-34855000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:34830800-34848400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:34831400-34849400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:34834400-34849000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:34834400-34851200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:34834400-34853600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:34834600-34849800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:34834800-34850200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:34835000-34846000	Strong transcription	HepG2	liver
18	chr6:34835000-34848000	Strong transcription	Fetal Brain Female	brain
19	chr6:34835000-34848000	Strong transcription	Thymus	Thymus
20	chr6:34835000-34848200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr6:34835000-34848200	Strong transcription	Fetal Muscle Leg	muscle
22	chr6:34835000-34849200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:34835000-34849400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:34835000-34849400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:34835200-34848000	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr6:34835200-34848600	Strong transcription	Brain Cingulate Gyrus	brain
27	chr6:34835400-34849000	Strong transcription	Adipose Nuclei	Adipose
28	chr6:34835400-34849400	Strong transcription	Liver	Liver
29	chr6:34835800-34847600	Weak transcription	A549	lung
30	chr6:34835800-34855200	Weak transcription	Small Intestine	intestine
31	chr6:34836600-34849200	Strong transcription	Dnd41	blood
32	chr6:34836800-34849600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr6:34837000-34849000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr6:34837000-34852000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:34837000-34852400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:34837400-34851200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr6:34837600-34848400	Strong transcription	Primary T cells from cord blood	blood
38	chr6:34837600-34849200	Strong transcription	GM12878-XiMat	blood
39	chr6:34837800-34848400	Strong transcription	Primary B cells from cord blood	blood
40	chr6:34838000-34848000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr6:34838000-34848200	Strong transcription	Brain Angular Gyrus	brain
42	chr6:34838000-34849000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr6:34838000-34849200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:34838000-34849600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:34838200-34848000	Strong transcription	HSMMtube	muscle
46	chr6:34838200-34848200	Strong transcription	Brain Hippocampus Middle	brain
47	chr6:34838200-34848600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:34838400-34850000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:34838600-34846200	Strong transcription	Left Ventricle	heart
50	chr6:34838600-34849400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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