Variant report

Variant	rs2814954
Chromosome Location	chr6:34698146-34698147
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34683902..34686435-chr6:34695998..34698813,2	K562	blood:
2	chr6:34696691..34699544-chr6:34703628..34706154,2	K562	blood:
3	chr6:34694281..34696402-chr6:34696757..34699128,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11970421	0.89[CHB][hapmap]
rs12173920	0.84[CHB][hapmap]
rs12176092	0.84[CHB][hapmap]
rs16894102	0.90[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs16894945	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs16894995	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs16895362	0.84[CHB][hapmap]
rs16895467	0.85[CHB][hapmap]
rs2064253	0.83[EUR][1000 genomes]
rs2235572	0.90[CHB][hapmap]
rs2236392	0.86[ASN][1000 genomes]
rs2252551	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs2744948	0.84[EUR][1000 genomes]
rs2744952	0.81[EUR][1000 genomes]
rs2744953	0.87[EUR][1000 genomes]
rs2744963	0.94[CEU][hapmap];0.89[CHB][hapmap]
rs2744966	0.94[CEU][hapmap];0.90[CHB][hapmap]
rs2744967	0.94[CEU][hapmap];0.85[CHB][hapmap]
rs2744968	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs2764199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2764200	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2764202	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2764209	0.81[AMR][1000 genomes]
rs2814950	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs2814960	0.83[AFR][1000 genomes]
rs2814962	0.83[AFR][1000 genomes]
rs2814965	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2814989	0.81[EUR][1000 genomes]
rs2814990	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs2814998	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs2815000	0.82[EUR][1000 genomes]
rs2815003	1.00[CEU][hapmap];0.84[CHB][hapmap];0.84[EUR][1000 genomes]
rs3734260	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs3734263	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs3736896	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3798349	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs3798351	0.86[ASN][1000 genomes]
rs3800449	0.84[CHB][hapmap]
rs3800455	0.86[ASN][1000 genomes]
rs3800456	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41438444	0.81[ASN][1000 genomes]
rs4711399	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56842618	0.86[ASN][1000 genomes]
rs57645599	0.83[ASN][1000 genomes]
rs57916801	0.88[ASN][1000 genomes]
rs59014029	0.88[ASN][1000 genomes]
rs59884600	0.86[ASN][1000 genomes]
rs60410089	0.86[ASN][1000 genomes]
rs60754257	0.85[ASN][1000 genomes]
rs6906500	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6932930	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6939345	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73413893	0.84[ASN][1000 genomes]
rs73415706	0.89[ASN][1000 genomes]
rs73415742	0.88[ASN][1000 genomes]
rs73415758	0.89[ASN][1000 genomes]
rs73415760	0.89[ASN][1000 genomes]
rs73415779	0.86[ASN][1000 genomes]
rs73415781	0.86[ASN][1000 genomes]
rs73417752	0.81[ASN][1000 genomes]
rs73417786	0.81[ASN][1000 genomes]
rs7739335	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7751664	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7752237	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7772600	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9296126	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9357186	0.84[CHB][hapmap]
rs9366871	0.82[JPT][hapmap]
rs9368829	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9380451	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9380471	0.84[CHB][hapmap]
rs9394257	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
10	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
11	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
12	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
13	nsv5255	chr6:34658569-34703563	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv508401	chr6:34669708-34710302	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv32827	chr6:34694806-34700121	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3471790	chr6:34697974-34702972	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2814954	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs2814954	SNRPC	Cis_1M	lymphoblastoid	RTeQTL
rs2814954	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs2814954	UHRF1BP1	cis	Artery Tibial	GTEx
rs2814954	UHRF1BP1	cis	Whole Blood	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34696000-34699000	Weak transcription	K562	blood
2	chr6:34696400-34699400	Enhancers	Fetal Muscle Leg	muscle
3	chr6:34696400-34700600	Enhancers	HepG2	liver
4	chr6:34697200-34699200	Enhancers	Fetal Muscle Trunk	muscle
5	chr6:34697400-34698200	Enhancers	Fetal Heart	heart
6	chr6:34697400-34698200	Enhancers	HSMM	muscle
7	chr6:34697400-34698200	Enhancers	HSMMtube	muscle
8	chr6:34697600-34698200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:34697600-34698200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:34697800-34698200	Enhancers	Left Ventricle	heart
11	chr6:34697800-34698200	Enhancers	Psoas Muscle	Psoas
12	chr6:34698000-34714000	Weak transcription	Esophagus	oesophagus

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