Variant report

Variant	rs2814997
Chromosome Location	chr6:34622991-34622992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34615191..34621424-chr6:34622750..34629225,8	K562	blood:
2	chr6:34615962..34618182-chr6:34622814..34624766,2	K562	blood:
3	chr6:34622560..34624840-chr6:34739559..34741975,2	K562	blood:
4	chr6:34611223..34612801-chr6:34622555..34624943,2	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	0.86[ASN][1000 genomes]
rs1964810	0.91[ASN][1000 genomes]
rs2064253	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2235571	0.86[ASN][1000 genomes]
rs2235572	0.87[ASN][1000 genomes]
rs2252551	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294536	0.83[ASN][1000 genomes]
rs2492862	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2744948	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2744952	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2744953	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2744962	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744963	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744966	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2744967	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2744968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744970	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2744975	0.89[AMR][1000 genomes]
rs2814989	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2814990	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2814998	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2815000	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2815003	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3800456	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41438444	0.84[ASN][1000 genomes]
rs4615374	0.89[ASN][1000 genomes]
rs4618513	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711399	0.84[EUR][1000 genomes]
rs56987113	0.93[ASN][1000 genomes]
rs57994417	0.85[ASN][1000 genomes]
rs58643640	0.90[ASN][1000 genomes]
rs6932930	0.84[EUR][1000 genomes]
rs73413893	0.82[ASN][1000 genomes]
rs7752237	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7772600	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9296126	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9368829	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9380451	0.81[AMR][1000 genomes];0.88[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	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
rs2814997	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs2814997	UHRF1BP1	cis	Whole Blood	GTEx
rs2814997	UHRF1BP1	cis	Artery Tibial	GTEx
rs2814997	C6orf107	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34571000-34624000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:34574400-34623400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr6:34586000-34624200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:34587400-34624200	Weak transcription	Spleen	Spleen
5	chr6:34593000-34623600	Weak transcription	Colonic Mucosa	Colon
6	chr6:34598800-34623200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:34603600-34624000	Weak transcription	Brain Germinal Matrix	brain
8	chr6:34603600-34625800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:34608800-34623400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:34610200-34624000	Weak transcription	Brain Substantia Nigra	brain
11	chr6:34610400-34623200	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:34612400-34625000	Weak transcription	Fetal Brain Male	brain
13	chr6:34613600-34624600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:34613600-34625000	Weak transcription	Esophagus	oesophagus
15	chr6:34614000-34623600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:34614000-34624200	Weak transcription	Fetal Kidney	kidney
17	chr6:34614000-34624600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:34614200-34624400	Weak transcription	Fetal Brain Female	brain
19	chr6:34614400-34623600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:34614600-34623600	Weak transcription	Lung	lung
21	chr6:34614600-34623600	Weak transcription	NHLF	lung
22	chr6:34614600-34623800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:34614600-34624000	Weak transcription	Thymus	Thymus
24	chr6:34614600-34624200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:34614600-34624200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:34614600-34624200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:34614600-34624400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:34614600-34625000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:34614800-34623400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr6:34615000-34624000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:34615000-34624000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:34615000-34624000	Weak transcription	HSMMtube	muscle
33	chr6:34615000-34625000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:34616200-34623800	Weak transcription	Pancreas	Pancrea
35	chr6:34616800-34624200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:34616800-34624200	Weak transcription	Aorta	Aorta
37	chr6:34619000-34623600	Weak transcription	Left Ventricle	heart
38	chr6:34619000-34623600	Weak transcription	Stomach Mucosa	stomach
39	chr6:34619200-34623600	Weak transcription	Psoas Muscle	Psoas
40	chr6:34619200-34623600	Weak transcription	Right Atrium	heart
41	chr6:34619200-34623800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr6:34619200-34624000	Weak transcription	Small Intestine	intestine
43	chr6:34619200-34624200	Weak transcription	Right Ventricle	heart
44	chr6:34619200-34625000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:34619400-34623400	Weak transcription	Colon Smooth Muscle	Colon
46	chr6:34619400-34623800	Weak transcription	Brain Anterior Caudate	brain
47	chr6:34620600-34623200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr6:34620600-34623600	Weak transcription	A549	lung
49	chr6:34620800-34624200	Weak transcription	HSMM	muscle
50	chr6:34621400-34624000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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