Variant report

Variant	rs7691924
Chromosome Location	chr4:99482259-99482260
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10030622	0.82[JPT][hapmap];0.87[AMR][1000 genomes]
rs17027701	0.82[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs17027731	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1881450	1.00[JPT][hapmap]
rs28618327	0.83[AMR][1000 genomes]
rs28784902	0.87[AMR][1000 genomes]
rs4554081	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4699347	0.82[JPT][hapmap];0.95[AMR][1000 genomes]
rs4699351	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4699649	0.91[AMR][1000 genomes]
rs4699653	0.89[AMR][1000 genomes]
rs4699655	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58408865	1.00[EUR][1000 genomes]
rs58485619	1.00[EUR][1000 genomes]
rs60266816	1.00[EUR][1000 genomes]
rs6532743	0.91[AMR][1000 genomes]
rs6824330	0.87[AMR][1000 genomes]
rs72896338	1.00[EUR][1000 genomes]
rs72896342	1.00[EUR][1000 genomes]
rs72896346	1.00[EUR][1000 genomes]
rs72896356	1.00[EUR][1000 genomes]
rs72896358	1.00[EUR][1000 genomes]
rs72896365	1.00[EUR][1000 genomes]
rs72896389	1.00[EUR][1000 genomes]
rs72896392	1.00[EUR][1000 genomes]
rs72898108	1.00[EUR][1000 genomes]
rs7679987	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8180171	0.87[AMR][1000 genomes]
rs9991048	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99466800-99501600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:99469000-99482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:99475200-99482400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:99477200-99482800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:99477400-99486800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:99477400-99487600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:99477400-99487600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:99477800-99482800	Weak transcription	HMEC	breast
9	chr4:99478000-99483000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:99479000-99486800	Weak transcription	Fetal Lung	lung
11	chr4:99479000-99490200	Weak transcription	HSMMtube	muscle
12	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
13	chr4:99479200-99482400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:99479200-99482400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:99479200-99482800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:99479200-99484400	Weak transcription	HUVEC	blood vessel
17	chr4:99479200-99486800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:99479200-99486800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:99479200-99487000	Weak transcription	NH-A	brain
20	chr4:99479200-99487200	Weak transcription	NHLF	lung
21	chr4:99479600-99482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:99479800-99485800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:99479800-99486800	Weak transcription	Spleen	Spleen
24	chr4:99479800-99487000	Weak transcription	NHDF-Ad	bronchial
25	chr4:99480000-99486800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:99480200-99486000	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:99480200-99486000	Weak transcription	Ovary	ovary
28	chr4:99480200-99486000	Weak transcription	Thymus	Thymus
29	chr4:99480400-99486800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:99480400-99487200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:99480600-99486200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr4:99481200-99485600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:99481200-99486800	Weak transcription	Brain Germinal Matrix	brain
34	chr4:99481400-99482800	Weak transcription	Fetal Heart	heart
35	chr4:99481400-99484200	Weak transcription	Brain Substantia Nigra	brain
36	chr4:99481400-99485400	Weak transcription	Fetal Brain Male	brain
37	chr4:99481400-99485600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:99481400-99486000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:99481400-99486000	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:99481800-99483400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:99481800-99485200	Weak transcription	Brain Anterior Caudate	brain
42	chr4:99481800-99485400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:99481800-99485600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:99481800-99485600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:99481800-99485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:99481800-99486800	Weak transcription	HSMM	muscle
47	chr4:99482000-99485200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:99482200-99482800	Weak transcription	Brain Angular Gyrus	brain
49	chr4:99482200-99483000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:99482200-99483200	Enhancers	Esophagus	oesophagus

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