Variant report

Variant	rs2744948
Chromosome Location	chr6:34634953-34634954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34634782..34636401-chr6:34645425..34647062,2	K562	blood:
2	chr6:34631409..34633756-chr6:34633956..34636158,2	K562	blood:
3	chr6:34626818..34628711-chr6:34634267..34636276,2	MCF-7	breast:
4	chr6:34633834..34635859-chr6:34639064..34643178,4	K562	blood:
5	chr6:34624273..34628240-chr6:34629354..34635168,7	K562	blood:
6	chr6:34632043..34635334-chr6:34637313..34641742,9	K562	blood:
7	chr6:34633118..34635191-chr6:34759810..34761910,2	K562	blood:
8	chr6:34199393..34201651-chr6:34633355..34635205,2	K562	blood:
9	chr6:34631788..34635438-chr6:34723513..34725198,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000065060	Chromatin interaction
ENSG00000196821	Chromatin interaction
ENSG00000124562	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1964810	0.84[ASN][1000 genomes]
rs2064253	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2235572	0.81[ASN][1000 genomes]
rs2252551	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2492862	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2744952	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2744953	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2744962	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2744963	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2744966	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2744967	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2744968	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2744970	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2744975	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2764199	0.84[EUR][1000 genomes]
rs2764200	0.83[EUR][1000 genomes]
rs2764202	0.83[EUR][1000 genomes]
rs2814954	0.84[EUR][1000 genomes]
rs2814965	0.81[EUR][1000 genomes]
rs2814989	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2814990	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2814997	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2814998	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2815000	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2815003	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3736896	0.81[EUR][1000 genomes]
rs3800456	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4615374	0.83[ASN][1000 genomes]
rs4618513	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4711399	0.89[EUR][1000 genomes]
rs4713823	0.82[EUR][1000 genomes]
rs56987113	0.86[ASN][1000 genomes]
rs58643640	0.84[ASN][1000 genomes]
rs6906500	0.84[EUR][1000 genomes]
rs6932930	0.89[EUR][1000 genomes]
rs6939345	0.82[EUR][1000 genomes]
rs7739335	0.82[EUR][1000 genomes]
rs7751664	0.84[EUR][1000 genomes]
rs7752237	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7772600	0.88[EUR][1000 genomes]
rs9296126	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9368829	0.89[EUR][1000 genomes]
rs9380451	0.81[AMR][1000 genomes];0.93[EUR][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
rs2744948	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs2744948	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs2744948	UHRF1BP1	cis	Whole Blood	GTEx
rs2744948	UHRF1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34625800-34635400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:34625800-34640600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:34626000-34647600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:34626000-34662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:34626800-34641600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:34626800-34662400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:34627000-34639000	Weak transcription	Esophagus	oesophagus
8	chr6:34627200-34639000	Weak transcription	Psoas Muscle	Psoas
9	chr6:34628000-34641400	Weak transcription	Gastric	stomach
10	chr6:34630000-34637200	Enhancers	Liver	Liver
11	chr6:34630600-34636200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:34631600-34635400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:34631600-34639400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr6:34631800-34638800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:34632000-34639800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:34632400-34638800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:34632600-34635000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:34632600-34639200	Weak transcription	Brain Anterior Caudate	brain
19	chr6:34632600-34639400	Weak transcription	Stomach Mucosa	stomach
20	chr6:34632600-34647400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:34632800-34635000	Weak transcription	Fetal Intestine Small	intestine
22	chr6:34632800-34638200	Weak transcription	Primary B cells from cord blood	blood
23	chr6:34632800-34639400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr6:34632800-34639400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:34632800-34639400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:34632800-34639400	Weak transcription	HSMM	muscle
27	chr6:34632800-34639600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:34632800-34640600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:34632800-34640600	Weak transcription	Brain Substantia Nigra	brain
30	chr6:34632800-34655200	Weak transcription	Fetal Stomach	stomach
31	chr6:34633000-34635200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:34633000-34636000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:34633000-34636200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:34633000-34637200	Weak transcription	NHEK	skin
35	chr6:34633000-34638000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:34633000-34639000	Weak transcription	Fetal Thymus	thymus
37	chr6:34633000-34639000	Weak transcription	Right Atrium	heart
38	chr6:34633000-34639000	Weak transcription	Right Ventricle	heart
39	chr6:34633000-34639000	Weak transcription	NHDF-Ad	bronchial
40	chr6:34633000-34639400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:34633000-34639600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:34633000-34639800	Weak transcription	Thymus	Thymus
43	chr6:34633000-34662800	Weak transcription	Aorta	Aorta
44	chr6:34633200-34637800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:34633200-34641200	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:34633400-34637800	Weak transcription	Lung	lung
47	chr6:34633400-34638800	Weak transcription	Left Ventricle	heart
48	chr6:34633400-34639000	Weak transcription	Spleen	Spleen
49	chr6:34633400-34639000	Weak transcription	Osteobl	bone
50	chr6:34633400-34639600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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