Variant report

Variant	rs2744953
Chromosome Location	chr6:34656462-34656463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1964810	0.83[ASN][1000 genomes]
rs2064253	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2236392	0.81[ASN][1000 genomes]
rs2252551	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2492862	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2744948	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2744952	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744962	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2744963	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2744966	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2744967	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2744968	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2744970	0.81[EUR][1000 genomes]
rs2764199	0.87[EUR][1000 genomes]
rs2764200	0.86[EUR][1000 genomes]
rs2764202	0.86[EUR][1000 genomes]
rs2814954	0.87[EUR][1000 genomes]
rs2814965	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2814989	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2814990	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2814997	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2814998	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2815000	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2815003	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3736896	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3798351	0.81[ASN][1000 genomes]
rs3800455	0.87[ASN][1000 genomes]
rs3800456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41438444	0.91[ASN][1000 genomes]
rs4615374	0.81[ASN][1000 genomes]
rs4618513	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4711399	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4713823	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56987113	0.85[ASN][1000 genomes]
rs57916801	0.83[ASN][1000 genomes]
rs58643640	0.85[ASN][1000 genomes]
rs59014029	0.83[ASN][1000 genomes]
rs59884600	0.81[ASN][1000 genomes]
rs60754257	0.83[ASN][1000 genomes]
rs6906500	0.87[EUR][1000 genomes]
rs6932930	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6939345	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73413893	0.89[ASN][1000 genomes]
rs73415706	0.81[ASN][1000 genomes]
rs73415758	0.81[ASN][1000 genomes]
rs73415760	0.81[ASN][1000 genomes]
rs7739335	0.85[EUR][1000 genomes]
rs7751664	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7752237	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7772600	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9296126	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9368829	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9380451	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[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	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2744953	UHRF1BP1	cis	Artery Tibial	GTEx
rs2744953	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs2744953	UHRF1BP1	cis	Whole Blood	GTEx
rs2744953	C6orf107	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34626000-34662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:34626800-34662400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:34633000-34662800	Weak transcription	Aorta	Aorta
4	chr6:34634800-34663200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:34636400-34662200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:34639800-34662800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:34639800-34662800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:34640200-34656600	Weak transcription	Spleen	Spleen
9	chr6:34641400-34662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:34641800-34661200	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:34641800-34663200	Weak transcription	Gastric	stomach
12	chr6:34642200-34663000	Weak transcription	Thymus	Thymus
13	chr6:34643000-34661200	Weak transcription	Right Atrium	heart
14	chr6:34643000-34662800	Weak transcription	Stomach Mucosa	stomach
15	chr6:34647800-34660800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:34647800-34661000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:34647800-34662000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:34647800-34662200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:34647800-34662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:34647800-34662600	Weak transcription	Ovary	ovary
21	chr6:34647800-34662800	Weak transcription	Brain Substantia Nigra	brain
22	chr6:34647800-34662800	Weak transcription	HSMMtube	muscle
23	chr6:34648000-34662600	Weak transcription	Right Ventricle	heart
24	chr6:34648000-34662800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:34648400-34662000	Weak transcription	Brain Anterior Caudate	brain
26	chr6:34649200-34660200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:34649200-34660400	Weak transcription	Primary T cells from cord blood	blood
28	chr6:34649200-34662200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:34649200-34662600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:34649400-34656600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr6:34649400-34656600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr6:34649400-34660200	Weak transcription	NHEK	skin
33	chr6:34649400-34661600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:34649400-34661600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:34649400-34662000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:34649400-34662000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr6:34649400-34662000	Weak transcription	Osteobl	bone
38	chr6:34649400-34662400	Weak transcription	HSMM	muscle
39	chr6:34649600-34661000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:34649600-34661000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr6:34649600-34661000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:34649600-34662000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:34649800-34660400	Weak transcription	Fetal Intestine Small	intestine
44	chr6:34650600-34656600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:34650600-34659200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr6:34650800-34659000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr6:34652600-34656600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr6:34652800-34657400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:34652800-34657600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr6:34652800-34660000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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