Variant report

Variant	rs3800458
Chromosome Location	chr6:34663487-34663488
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr6:34663022-34665275	IMR90	lung:	n/a	n/a
2	MTA3	chr6:34663047-34664418	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr6:34662866-34663850	K562	blood:	n/a	n/a
4	ZNF263	chr6:34663074-34664453	HEK293-T-REx	kidney:	n/a	chr6:34663577-34663586
5	CHD1	chr6:34662884-34665377	IMR90	lung:	n/a	n/a
6	UBTF	chr6:34663083-34665151	K562	blood:	n/a	n/a
7	IKZF1	chr6:34662859-34664063	GM12878	blood:	n/a	chr6:34663354-34663362
8	NR2F2	chr6:34663078-34665516	K562	blood:	n/a	n/a
9	REST	chr6:34663255-34663557	K562	blood:	n/a	chr6:34663518-34663527
10	RCOR1	chr6:34662922-34665012	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr6:34662856-34663893	GM12878	blood:	n/a	n/a
12	TEAD4	chr6:34662989-34664317	K562	blood:	n/a	n/a
13	NR2F2	chr6:34663128-34663602	K562	blood:	n/a	n/a
14	WRNIP1	chr6:34662923-34664401	GM12878	blood:	n/a	n/a
15	MXI1	chr6:34662943-34663764	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr6:34663040-34666053	K562	blood:	n/a	n/a
17	CHD1	chr6:34662963-34663688	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34663247..34666234-chr6:34723415..34727175,3	K562	blood:
2	chr6:34663461..34666396-chr6:34758437..34761219,3	K562	blood:
3	chr6:34660360..34662631-chr6:34662736..34665398,3	K562	blood:
4	chr6:34433144..34435297-chr6:34663197..34665594,2	MCF-7	breast:
5	chr6:34662430..34663990-chr6:34776772..34779550,2	MCF-7	breast:
6	chr6:34662895..34664989-chr6:34725317..34726977,2	MCF-7	breast:
7	chr6:34653279..34655876-chr6:34663256..34664778,2	MCF-7	breast:
8	chr6:34663247..34666328-chr6:34722695..34726583,8	K562	blood:
9	chr6:34657528..34660560-chr6:34662754..34664755,3	MCF-7	breast:
10	chr6:34584121..34585997-chr6:34662703..34665284,2	K562	blood:
11	chr6:34656941..34658907-chr6:34661433..34663636,2	MCF-7	breast:
12	chr6:34662945..34666396-chr6:34758284..34762755,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272288	TF binding region
ENSG00000220643	Chromatin interaction
ENSG00000124562	Chromatin interaction
ENSG00000216636	Chromatin interaction
ENSG00000124507	Chromatin interaction
ENSG00000265123	Chromatin interaction
ENSG00000238484	Chromatin interaction
ENSG00000065060	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10947531	0.92[CEU][hapmap]
rs11755420	0.92[CEU][hapmap]
rs11757370	0.92[CEU][hapmap]
rs13220394	0.92[CEU][hapmap]
rs188190	0.87[CEU][hapmap]
rs205260	0.88[CEU][hapmap]
rs205283	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs205286	0.88[CEU][hapmap]
rs2235568	0.83[CEU][hapmap]
rs2235569	0.83[CEU][hapmap]
rs2296360	0.92[CEU][hapmap]
rs2395598	0.92[CEU][hapmap]
rs2395604	0.91[CEU][hapmap]
rs2744943	0.92[CEU][hapmap]
rs2744949	0.92[CEU][hapmap]
rs2744957	0.92[CEU][hapmap]
rs2744961	0.92[CEU][hapmap]
rs2744974	0.87[CEU][hapmap]
rs2764201	0.92[CEU][hapmap]
rs2764206	0.92[CEU][hapmap]
rs2764207	0.92[CEU][hapmap]
rs2764208	0.92[CEU][hapmap]
rs2814942	0.88[CEU][hapmap]
rs2814945	0.92[CEU][hapmap]
rs2814947	0.91[CEU][hapmap]
rs2814966	0.92[CEU][hapmap]
rs2814968	0.92[CEU][hapmap]
rs2814970	0.88[CEU][hapmap]
rs2814971	0.92[CEU][hapmap]
rs2814972	0.80[CEU][hapmap]
rs2814981	0.87[CEU][hapmap]
rs2814984	0.87[CEU][hapmap]
rs2814992	0.92[CEU][hapmap]
rs2815004	0.92[CEU][hapmap]
rs3734264	0.92[CEU][hapmap]
rs3734268	0.92[CEU][hapmap]
rs3798352	0.81[CEU][hapmap]
rs412392	0.88[CEU][hapmap]
rs4259246	0.92[CEU][hapmap]
rs4646949	0.85[CHB][hapmap]
rs6457795	0.92[CEU][hapmap]
rs6906129	0.87[CEU][hapmap]
rs6924898	0.92[CEU][hapmap]
rs6937314	0.92[CEU][hapmap]
rs7341253	0.90[CEU][hapmap]
rs7341267	0.92[CEU][hapmap]
rs7739771	0.92[CEU][hapmap]
rs7741398	0.82[EUR][1000 genomes]
rs7741437	0.92[CEU][hapmap]
rs7742652	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7745097	0.91[CEU][hapmap]
rs7755926	0.91[CEU][hapmap]
rs7755982	0.92[CEU][hapmap]
rs7756405	0.92[CEU][hapmap]
rs7759227	0.92[CEU][hapmap]
rs7763987	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7771778	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7774697	0.92[CEU][hapmap]
rs7776219	0.92[CEU][hapmap]
rs9296129	0.92[CEU][hapmap]
rs9348950	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9357181	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9366863	0.80[EUR][1000 genomes]
rs9368832	0.80[EUR][1000 genomes]
rs9380454	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9380455	0.92[CEU][hapmap]
rs9394248	0.87[CEU][hapmap];0.90[CHB][hapmap];0.91[EUR][1000 genomes]
rs9462006	0.92[CEU][hapmap]
rs9462015	0.92[CEU][hapmap]
rs9462022	0.91[CEU][hapmap]
rs9462026	0.92[CEU][hapmap]
rs9469857	0.92[CEU][hapmap]
rs9469859	0.92[CEU][hapmap]
rs9469863	0.92[CEU][hapmap]
rs9469886	0.92[CEU][hapmap]
rs9469909	0.92[CEU][hapmap]
rs9469914	0.92[CEU][hapmap]
rs9469917	0.92[CEU][hapmap]
rs998278	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking 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 lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv885794	chr6:34561585-34673149	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv5255	chr6:34658569-34703563	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs3800458	UHRF1BP1	cis	Artery Aorta	GTEx
rs3800458	UHRF1BP1	cis	Nerve Tibial	GTEx
rs3800458	UHRF1BP1	cis	Stomach	GTEx
rs3800458	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs3800458	SNRPC	Cis_1M	lymphoblastoid	RTeQTL
rs3800458	UHRF1BP1	cis	Artery Tibial	GTEx
rs3800458	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs3800458	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs3800458	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs3800458	UHRF1BP1	cis	lung	GTEx
rs3800458	C6orf107	cis	uninvolved skin	skin_eQTL
rs3800458	UHRF1BP1	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34659800-34665600	Active TSS	GM12878-XiMat	blood
2	chr6:34661600-34663800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr6:34661600-34663800	Enhancers	Spleen	Spleen
4	chr6:34662200-34663600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:34662200-34664000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr6:34662200-34664000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr6:34662200-34665400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:34662400-34663800	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr6:34662600-34663600	Flanking Active TSS	Psoas Muscle	Psoas
10	chr6:34662600-34663800	Flanking Active TSS	Rectal Smooth Muscle	rectum
11	chr6:34662600-34664200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:34662600-34665400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:34662800-34663600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:34662800-34663600	Flanking Active TSS	Fetal Intestine Small	intestine
15	chr6:34662800-34663600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr6:34662800-34663600	Flanking Active TSS	Osteobl	bone
17	chr6:34662800-34663800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:34662800-34663800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:34662800-34663800	Flanking Active TSS	Liver	Liver
20	chr6:34662800-34663800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:34662800-34663800	Flanking Active TSS	Fetal Stomach	stomach
22	chr6:34662800-34663800	Flanking Active TSS	Fetal Thymus	thymus
23	chr6:34662800-34664000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:34662800-34664000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr6:34662800-34664000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr6:34662800-34664000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr6:34662800-34664000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:34662800-34664000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:34662800-34664000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr6:34662800-34664000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:34662800-34664000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr6:34662800-34664000	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr6:34662800-34664000	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr6:34662800-34664000	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr6:34662800-34664000	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr6:34662800-34664000	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr6:34662800-34664000	Flanking Active TSS	HUVEC	blood vessel
38	chr6:34662800-34664200	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr6:34662800-34664200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr6:34662800-34664200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr6:34662800-34664200	Active TSS	Right Atrium	heart
42	chr6:34662800-34664200	Flanking Active TSS	Dnd41	blood
43	chr6:34662800-34664200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr6:34662800-34665200	Active TSS	Aorta	Aorta
45	chr6:34662800-34665200	Active TSS	Esophagus	oesophagus
46	chr6:34662800-34665200	Active TSS	Fetal Muscle Trunk	muscle
47	chr6:34662800-34665400	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr6:34662800-34665400	Active TSS	HSMMtube	muscle
49	chr6:34662800-34665600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr6:34663000-34663600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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