Variant report

Variant	rs2744959
Chromosome Location	chr6:34616654-34616655
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34614875..34617776-chr6:34618534..34620820,2	K562	blood:
2	chr6:34615962..34618182-chr6:34622814..34624766,2	K562	blood:
3	chr6:34615191..34621424-chr6:34622750..34629225,8	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10807141	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11759151	0.83[EUR][1000 genomes]
rs11965761	0.80[EUR][1000 genomes]
rs1201873	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1201874	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12201281	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs188190	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1998702	0.83[EUR][1000 genomes]
rs2038841	0.82[EUR][1000 genomes]
rs205258	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs205259	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs205260	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs205286	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235568	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2235569	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2262245	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2263329	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2395598	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2395599	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2477507	0.82[EUR][1000 genomes]
rs2477508	0.82[EUR][1000 genomes]
rs2492860	0.81[EUR][1000 genomes]
rs2492861	0.82[EUR][1000 genomes]
rs2744941	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2744943	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2744944	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2744949	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2744957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2744961	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2744973	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2744974	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2764197	0.82[EUR][1000 genomes]
rs2764198	0.82[EUR][1000 genomes]
rs2764206	0.82[EUR][1000 genomes]
rs2764207	0.82[EUR][1000 genomes]
rs2764208	0.82[EUR][1000 genomes]
rs2764211	0.82[EUR][1000 genomes]
rs2814945	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814946	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2814947	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2814949	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2814951	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2814952	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2814953	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2814955	0.82[EUR][1000 genomes]
rs2814956	0.82[EUR][1000 genomes]
rs2814957	0.82[EUR][1000 genomes]
rs2814958	0.81[EUR][1000 genomes]
rs2814959	0.82[EUR][1000 genomes]
rs2814961	0.82[EUR][1000 genomes]
rs2814963	0.82[EUR][1000 genomes]
rs2814966	0.82[EUR][1000 genomes]
rs2814967	0.82[EUR][1000 genomes]
rs2814968	0.82[EUR][1000 genomes]
rs2814969	0.83[EUR][1000 genomes]
rs2814970	0.83[EUR][1000 genomes]
rs2814972	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2814974	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2814975	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814976	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2814978	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2814979	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2814981	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2814984	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2814987	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2814988	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2814992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2814995	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2815001	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2815004	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28675115	0.82[EUR][1000 genomes]
rs34493158	0.83[EUR][1000 genomes]
rs3734268	0.82[EUR][1000 genomes]
rs3798352	0.82[EUR][1000 genomes]
rs412392	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4513788	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58671447	0.82[EUR][1000 genomes]
rs58843872	0.81[EUR][1000 genomes]
rs6899938	0.82[EUR][1000 genomes]
rs6900188	0.81[EUR][1000 genomes]
rs6900847	0.80[EUR][1000 genomes]
rs6906759	0.83[EUR][1000 genomes]
rs6907244	0.81[EUR][1000 genomes]
rs6929567	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6937784	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6940395	0.80[EUR][1000 genomes]
rs7341267	0.83[EUR][1000 genomes]
rs7341329	0.83[EUR][1000 genomes]
rs7741398	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7741437	0.83[EUR][1000 genomes]
rs7742652	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7755926	0.82[EUR][1000 genomes]
rs7755982	0.82[EUR][1000 genomes]
rs7756009	0.82[EUR][1000 genomes]
rs7756405	0.82[EUR][1000 genomes]
rs7758082	0.81[EUR][1000 genomes]
rs7759128	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7759227	0.83[EUR][1000 genomes]
rs7763224	0.82[EUR][1000 genomes]
rs7763987	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7771778	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs912716	0.82[EUR][1000 genomes]
rs9296127	0.82[EUR][1000 genomes]
rs9348950	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9357181	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9366863	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9368830	0.86[ASN][1000 genomes]
rs9368832	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9380454	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9462006	0.82[EUR][1000 genomes]
rs9462009	0.83[EUR][1000 genomes]
rs9462010	0.81[EUR][1000 genomes]
rs9462011	0.81[EUR][1000 genomes]
rs9462015	0.82[EUR][1000 genomes]
rs9462020	0.83[EUR][1000 genomes]
rs9462021	0.81[EUR][1000 genomes]
rs9469835	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9469857	0.82[EUR][1000 genomes]
rs9469859	0.81[EUR][1000 genomes]
rs9469862	0.82[EUR][1000 genomes]
rs9469863	0.83[EUR][1000 genomes]
rs9469870	0.83[EUR][1000 genomes]
rs9469871	0.83[EUR][1000 genomes]
rs9469872	0.82[EUR][1000 genomes]
rs9469882	0.81[EUR][1000 genomes]
rs9469883	0.81[EUR][1000 genomes]
rs9469884	0.80[EUR][1000 genomes]
rs9469885	0.81[EUR][1000 genomes]
rs9469887	0.80[EUR][1000 genomes]
rs9689516	0.80[EUR][1000 genomes]
rs9689820	0.82[EUR][1000 genomes]

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	nsv7888	chr6:34615081-34622696	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2744959	UHRF1BP1	cis	Whole Blood	GTEx
rs2744959	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs2744959	UHRF1BP1	cis	lung	GTEx
rs2744959	UHRF1BP1	cis	Artery Tibial	GTEx
rs2744959	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs2744959	UHRF1BP1	cis	Stomach	GTEx
rs2744959	UHRF1BP1	cis	Artery Aorta	GTEx
rs2744959	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs2744959	SNRPC	Cis_1M	lymphoblastoid	RTeQTL
rs2744959	UHRF1BP1	cis	Nerve Tibial	GTEx
rs2744959	UHRF1BP1	cis	Muscle Skeletal	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34570800-34618800	Weak transcription	Brain Angular Gyrus	brain
2	chr6:34571000-34621400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:34571000-34624000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:34574400-34623400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:34575000-34618800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:34577400-34618600	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:34586000-34624200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:34587400-34624200	Weak transcription	Spleen	Spleen
9	chr6:34593000-34623600	Weak transcription	Colonic Mucosa	Colon
10	chr6:34598000-34620000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:34598800-34619200	Weak transcription	NH-A	brain
12	chr6:34598800-34623200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:34599600-34618600	Weak transcription	HMEC	breast
14	chr6:34603600-34624000	Weak transcription	Brain Germinal Matrix	brain
15	chr6:34603600-34625800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:34606400-34621800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr6:34607400-34619200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:34607400-34622000	Weak transcription	NHDF-Ad	bronchial
19	chr6:34608800-34623400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:34609600-34617200	Strong transcription	Primary T cells from cord blood	blood
21	chr6:34610000-34617200	Strong transcription	HepG2	liver
22	chr6:34610000-34617400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr6:34610200-34624000	Weak transcription	Brain Substantia Nigra	brain
24	chr6:34610400-34623200	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:34610800-34617000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:34611200-34617600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr6:34611800-34622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:34611800-34622600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr6:34611800-34622800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:34612000-34622600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:34612200-34619000	Strong transcription	K562	blood
32	chr6:34612400-34618000	Strong transcription	Primary B cells from cord blood	blood
33	chr6:34612400-34625000	Weak transcription	Fetal Brain Male	brain
34	chr6:34613000-34621200	Weak transcription	HUVEC	blood vessel
35	chr6:34613000-34622000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr6:34613600-34618400	Weak transcription	Right Ventricle	heart
37	chr6:34613600-34621000	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:34613600-34624600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:34613600-34625000	Weak transcription	Esophagus	oesophagus
40	chr6:34613800-34621200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:34613800-34621200	Weak transcription	Osteobl	bone
42	chr6:34614000-34618400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:34614000-34619000	Weak transcription	Brain Anterior Caudate	brain
44	chr6:34614000-34619600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr6:34614000-34623600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:34614000-34624200	Weak transcription	Fetal Kidney	kidney
47	chr6:34614000-34624600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:34614200-34622000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr6:34614200-34624400	Weak transcription	Fetal Brain Female	brain
50	chr6:34614400-34618600	Weak transcription	Stomach Smooth Muscle	stomach

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