Variant report

Variant	rs4646926
Chromosome Location	chr6:34852253-34852254
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:34852000-34852629	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:34834250..34837156-chr6:34851105..34853013,3	MCF-7	breast:
2	chr6:34843479..34847323-chr6:34849401..34853884,4	MCF-7	breast:
3	chr6:34837346..34838981-chr6:34850648..34853394,2	K562	blood:
4	chr6:34842945..34852488-chr6:34852501..34858927,16	MCF-7	breast:

Variant related genes	Relation type
ANKS1A	TF binding region
ENSG00000064995	Chromatin interaction
ENSG00000064999	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11969436	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1535001	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2473615	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3817473	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4646949	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7753949	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847846	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs847850	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs847851	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs847859	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9380469	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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
18	esv1811041	chr6:34851134-34856501	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a
19	esv1802115	chr6:34852176-34856501	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4646926	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs4646926	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs4646926	UHRF1BP1	cis	Whole Blood	GTEx
rs4646926	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs4646926	UHRF1BP1	cis	Artery Tibial	GTEx
rs4646926	C6orf107	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr6:34818600-34853400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:34820200-34855000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:34821000-34854600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:34830000-34855000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:34834400-34853600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:34835800-34855200	Weak transcription	Small Intestine	intestine
8	chr6:34837000-34852400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:34840800-34854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:34841400-34854600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:34841400-34855200	Weak transcription	Fetal Heart	heart
12	chr6:34841600-34854600	Weak transcription	Fetal Kidney	kidney
13	chr6:34842600-34854800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:34844000-34854000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:34844000-34854800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:34844600-34853400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:34844600-34854600	Weak transcription	Psoas Muscle	Psoas
18	chr6:34845000-34854600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:34845200-34853800	Weak transcription	Fetal Brain Male	brain
20	chr6:34845400-34854600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:34846600-34854600	Weak transcription	HMEC	breast
22	chr6:34847600-34854600	Weak transcription	Right Ventricle	heart
23	chr6:34848000-34853600	Weak transcription	Fetal Brain Female	brain
24	chr6:34848000-34854400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:34848000-34854600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:34848000-34854600	Weak transcription	Brain Germinal Matrix	brain
27	chr6:34848000-34854600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr6:34848000-34854600	Weak transcription	Thymus	Thymus
29	chr6:34848000-34854600	Weak transcription	HSMMtube	muscle
30	chr6:34848000-34854600	Weak transcription	NHLF	lung
31	chr6:34848000-34854800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:34848000-34854800	Weak transcription	Gastric	stomach
33	chr6:34848200-34853400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:34848200-34853400	Weak transcription	Pancreas	Pancrea
35	chr6:34848200-34854000	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:34848200-34854000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:34848200-34854000	Weak transcription	NHEK	skin
38	chr6:34848200-34854400	Weak transcription	Colonic Mucosa	Colon
39	chr6:34848200-34854600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:34848200-34854600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr6:34848200-34854600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:34848200-34854600	Weak transcription	Brain Angular Gyrus	brain
43	chr6:34848200-34854600	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:34848200-34854600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:34848200-34854600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr6:34848200-34854600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr6:34848200-34854600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:34848200-34854600	Weak transcription	Spleen	Spleen
49	chr6:34848200-34854600	Weak transcription	A549	lung
50	chr6:34848200-34854800	Weak transcription	Esophagus	oesophagus

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