Variant report

Variant	rs7691978
Chromosome Location	chr4:96098994-96098995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10516959	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11724291	1.00[ASN][1000 genomes]
rs11936736	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11945547	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1434540	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1434542	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1434543	0.84[ASN][1000 genomes]
rs17023055	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17023071	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17023083	0.89[ASN][1000 genomes]
rs17023105	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17023107	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17023119	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1836262	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1865380	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2082656	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34585936	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3755881	0.90[ASN][1000 genomes]
rs3796438	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3796441	0.89[ASN][1000 genomes]
rs3796447	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3821965	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59204183	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59357293	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60968970	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6532533	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6826261	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6826477	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73839218	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7441644	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7662630	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7674881	0.89[ASN][1000 genomes]
rs7682667	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96059800-96100400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:96084600-96111800	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:96084800-96099800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:96087600-96107000	Weak transcription	A549	lung
5	chr4:96091000-96111600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:96091400-96109400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:96097600-96099600	ZNF genes & repeats	Fetal Stomach	stomach
8	chr4:96098000-96099600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:96098000-96100000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:96098000-96127000	Weak transcription	Right Atrium	heart
11	chr4:96098200-96099000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr4:96098200-96099000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr4:96098200-96099000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:96098200-96099400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr4:96098200-96099400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr4:96098200-96099400	ZNF genes & repeats	Dnd41	blood
17	chr4:96098200-96099600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:96098200-96100400	Strong transcription	Brain Cingulate Gyrus	brain
19	chr4:96098400-96099000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr4:96098400-96099200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:96098400-96099200	ZNF genes & repeats	Fetal Lung	lung
22	chr4:96098400-96099400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:96098400-96099400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:96098400-96099400	ZNF genes & repeats	Spleen	Spleen
25	chr4:96098400-96099600	Strong transcription	Brain Hippocampus Middle	brain
26	chr4:96098400-96099600	Strong transcription	Brain Substantia Nigra	brain
27	chr4:96098400-96099600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:96098400-96100000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr4:96098400-96100000	Strong transcription	Brain Anterior Caudate	brain
30	chr4:96098400-96100000	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr4:96098400-96100400	Strong transcription	Brain Angular Gyrus	brain
32	chr4:96098600-96099000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
33	chr4:96098600-96099000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr4:96098600-96100000	Strong transcription	Fetal Kidney	kidney
35	chr4:96098600-96102200	Weak transcription	Ovary	ovary
36	chr4:96098800-96099800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:96098800-96101000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:96098800-96101200	Weak transcription	K562	blood
39	chr4:96098800-96101400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:96098800-96101800	Weak transcription	Aorta	Aorta
41	chr4:96098800-96105200	Weak transcription	Rectal Mucosa Donor 31	rectum

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