Variant report

Variant	rs9993039
Chromosome Location	chr4:99485053-99485054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99483863..99486365-chr4:99487741..99490347,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10000857	0.97[EUR][1000 genomes]
rs10001528	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10005706	1.00[EUR][1000 genomes]
rs10007752	0.97[EUR][1000 genomes]
rs10010485	0.90[EUR][1000 genomes]
rs10030396	0.82[CHB][hapmap];0.90[EUR][1000 genomes]
rs10030622	1.00[CEU][hapmap]
rs10031904	0.82[CHB][hapmap];0.97[EUR][1000 genomes]
rs17027682	0.82[CHB][hapmap];0.90[EUR][1000 genomes]
rs17027701	1.00[CEU][hapmap]
rs17027707	0.93[EUR][1000 genomes]
rs17027758	1.00[EUR][1000 genomes]
rs17027802	1.00[CEU][hapmap]
rs17027831	1.00[CEU][hapmap]
rs17027835	1.00[CEU][hapmap]
rs17027843	1.00[CEU][hapmap]
rs1919212	0.90[EUR][1000 genomes]
rs28372028	0.86[EUR][1000 genomes]
rs28445981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28502504	0.90[EUR][1000 genomes]
rs28504661	0.90[EUR][1000 genomes]
rs28532945	0.86[EUR][1000 genomes]
rs28576181	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs28635613	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28648419	0.90[EUR][1000 genomes]
rs28696298	0.86[EUR][1000 genomes]
rs28712025	0.90[EUR][1000 genomes]
rs28758777	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4699347	1.00[CEU][hapmap]
rs72902292	0.90[EUR][1000 genomes]
rs9990571	0.90[EUR][1000 genomes]
rs9991086	0.90[EUR][1000 genomes]

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	chr4:99477400-99486800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:99477400-99487600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:99477400-99487600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:99479000-99486800	Weak transcription	Fetal Lung	lung
6	chr4:99479000-99490200	Weak transcription	HSMMtube	muscle
7	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
8	chr4:99479200-99486800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:99479200-99486800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:99479200-99487000	Weak transcription	NH-A	brain
11	chr4:99479200-99487200	Weak transcription	NHLF	lung
12	chr4:99479800-99485800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:99479800-99486800	Weak transcription	Spleen	Spleen
14	chr4:99479800-99487000	Weak transcription	NHDF-Ad	bronchial
15	chr4:99480000-99486800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:99480200-99486000	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:99480200-99486000	Weak transcription	Ovary	ovary
18	chr4:99480200-99486000	Weak transcription	Thymus	Thymus
19	chr4:99480400-99486800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:99480400-99487200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:99480600-99486200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr4:99481200-99485600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:99481200-99486800	Weak transcription	Brain Germinal Matrix	brain
24	chr4:99481400-99485400	Weak transcription	Fetal Brain Male	brain
25	chr4:99481400-99485600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:99481400-99486000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:99481400-99486000	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:99481800-99485200	Weak transcription	Brain Anterior Caudate	brain
29	chr4:99481800-99485400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:99481800-99485600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:99481800-99485600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:99481800-99485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:99481800-99486800	Weak transcription	HSMM	muscle
34	chr4:99482000-99485200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:99482200-99485200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:99482200-99485600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:99482200-99486000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:99482200-99486000	Weak transcription	Fetal Brain Female	brain
39	chr4:99482200-99486200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:99482800-99486600	Weak transcription	Fetal Stomach	stomach
41	chr4:99483000-99486000	Weak transcription	Brain Angular Gyrus	brain
42	chr4:99483000-99487000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:99483200-99487600	Weak transcription	Esophagus	oesophagus
44	chr4:99483200-99495800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:99483400-99485600	Weak transcription	Fetal Heart	heart
46	chr4:99483400-99486800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:99483400-99486800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:99483400-99486800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:99483400-99487000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:99483400-99498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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