Variant report

Variant	rs2492862
Chromosome Location	chr6:34603303-34603304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34601092..34603459-chr6:34730647..34732860,2	K562	blood:
2	chr6:34600985..34603730-chr6:34637415..34639483,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11970421	0.93[ASN][1000 genomes]
rs1964810	0.94[ASN][1000 genomes]
rs2064253	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2235571	0.93[ASN][1000 genomes]
rs2235572	0.94[ASN][1000 genomes]
rs2252551	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294536	0.90[ASN][1000 genomes]
rs2744948	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2744952	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2744953	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2744962	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2744963	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2744966	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2744967	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2744968	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2744970	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2744975	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2814989	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2814990	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2814997	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814998	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2815000	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2815003	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3800456	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41438444	0.84[ASN][1000 genomes]
rs4615374	0.95[ASN][1000 genomes]
rs4618513	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711399	0.81[EUR][1000 genomes]
rs56987113	0.94[ASN][1000 genomes]
rs57994417	0.91[ASN][1000 genomes]
rs58643640	0.90[ASN][1000 genomes]
rs6932930	0.81[EUR][1000 genomes]
rs73413893	0.82[ASN][1000 genomes]
rs7752237	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7772600	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9296126	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9368829	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9380451	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv885792	chr6:34507311-34607958	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2492862	UHRF1BP1	cis	Artery Tibial	GTEx
rs2492862	UHRF1BP1	cis	Whole Blood	GTEx
rs2492862	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs2492862	UHRF1BP1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34556200-34612200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:34557400-34612400	Weak transcription	Fetal Kidney	kidney
3	chr6:34567000-34612200	Weak transcription	Fetal Lung	lung
4	chr6:34567800-34612400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:34570400-34612600	Weak transcription	Brain Anterior Caudate	brain
6	chr6:34570600-34610000	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:34570800-34618800	Weak transcription	Brain Angular Gyrus	brain
8	chr6:34571000-34621400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:34571000-34624000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:34572400-34612600	Weak transcription	Aorta	Aorta
11	chr6:34573800-34607200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:34574400-34612400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr6:34574400-34623400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:34574600-34612600	Weak transcription	Gastric	stomach
15	chr6:34574600-34613600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:34574600-34613600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:34574800-34611800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:34574800-34612200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:34574800-34612400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:34574800-34612400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr6:34574800-34612600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:34574800-34613200	Weak transcription	Small Intestine	intestine
23	chr6:34575000-34612400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:34575000-34612400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:34575000-34612600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:34575000-34618800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:34575400-34606600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:34575600-34611200	Weak transcription	Placenta	Placenta
29	chr6:34575800-34612000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr6:34577400-34613400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:34577400-34618600	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:34578800-34612400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:34579200-34614200	Weak transcription	Pancreas	Pancrea
34	chr6:34579800-34612600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:34582800-34613200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:34584000-34609000	Weak transcription	HSMM	muscle
37	chr6:34584000-34612000	Weak transcription	Adipose Nuclei	Adipose
38	chr6:34584200-34606400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr6:34584200-34612000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:34584200-34612200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr6:34584400-34613000	Weak transcription	Esophagus	oesophagus
42	chr6:34584800-34606000	Weak transcription	Dnd41	blood
43	chr6:34584800-34612200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr6:34585400-34611600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:34585800-34609200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:34586000-34624200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:34586600-34606800	Weak transcription	Liver	Liver
48	chr6:34586600-34609600	Weak transcription	Primary T cells from cord blood	blood
49	chr6:34587400-34624200	Weak transcription	Spleen	Spleen
50	chr6:34587600-34603600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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