Variant report

Variant	rs7340876
Chromosome Location	chr4:151080475-151080476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151078198..151081069-chr4:151085452..151087765,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1160433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11737192	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2359926	0.81[CHB][hapmap]
rs3922818	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4346630	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4513543	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55803223	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56141146	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60467236	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6812795	0.81[CHB][hapmap]
rs7674585	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7340876	RP11-372K14.2	cis	Nerve Tibial	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151045200-151099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:151070800-151080600	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:151071400-151091400	Weak transcription	Osteobl	bone
4	chr4:151071600-151091600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:151072600-151088000	Weak transcription	Fetal Stomach	stomach
6	chr4:151072600-151089000	Weak transcription	Aorta	Aorta
7	chr4:151074400-151081800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:151074400-151091800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:151074400-151094200	Weak transcription	NH-A	brain
10	chr4:151074600-151081400	Weak transcription	Brain Substantia Nigra	brain
11	chr4:151074600-151087800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:151074600-151090000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:151074600-151094000	Weak transcription	HSMMtube	muscle
14	chr4:151074600-151094600	Weak transcription	HSMM	muscle
15	chr4:151074800-151081200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:151075200-151085000	Weak transcription	Ovary	ovary
17	chr4:151077200-151081200	Weak transcription	Right Ventricle	heart
18	chr4:151077200-151087800	Weak transcription	A549	lung
19	chr4:151078800-151080600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:151078800-151083000	Enhancers	Fetal Heart	heart
21	chr4:151079800-151081000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:151080000-151080600	Weak transcription	Brain Germinal Matrix	brain
23	chr4:151080400-151080600	Weak transcription	Lung	lung
24	chr4:151080400-151080600	ZNF genes & repeats	NHLF	lung
25	chr4:151080400-151080800	Enhancers	Brain Anterior Caudate	brain
26	chr4:151080400-151082000	Enhancers	Left Ventricle	heart
27	chr4:151080400-151083800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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