Variant report

Variant	rs7666585
Chromosome Location	chr4:99481910-99481911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10026446	0.86[JPT][hapmap]
rs10489125	1.00[JPT][hapmap]
rs10516433	0.82[JPT][hapmap]
rs10516434	0.82[JPT][hapmap]
rs1547382	0.82[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1554849	0.82[JPT][hapmap]
rs17027799	0.82[CEU][hapmap];0.85[JPT][hapmap]
rs17498778	1.00[JPT][hapmap]
rs17499015	0.82[JPT][hapmap]
rs4699654	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57541793	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62323626	0.85[ASN][1000 genomes]
rs6532740	0.82[JPT][hapmap]
rs6532746	0.82[JPT][hapmap]
rs6840610	0.85[JPT][hapmap]
rs6853079	0.82[JPT][hapmap]
rs73832354	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7666573	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7667273	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689289	0.85[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:57 , 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	chr4:99468400-99482200	Weak transcription	Esophagus	oesophagus
3	chr4:99469000-99482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:99475200-99482400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:99475400-99482000	Enhancers	Brain Cingulate Gyrus	brain
6	chr4:99475400-99482200	Enhancers	Brain Angular Gyrus	brain
7	chr4:99475800-99482200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr4:99476000-99482200	Enhancers	Fetal Brain Female	brain
9	chr4:99477200-99482800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:99477400-99486800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:99477400-99487600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:99477400-99487600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:99477800-99482800	Weak transcription	HMEC	breast
14	chr4:99478000-99483000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:99478600-99482200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:99478800-99482200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:99479000-99486800	Weak transcription	Fetal Lung	lung
18	chr4:99479000-99490200	Weak transcription	HSMMtube	muscle
19	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
20	chr4:99479200-99482200	Weak transcription	NHEK	skin
21	chr4:99479200-99482400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:99479200-99482400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:99479200-99482800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:99479200-99484400	Weak transcription	HUVEC	blood vessel
25	chr4:99479200-99486800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:99479200-99486800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:99479200-99487000	Weak transcription	NH-A	brain
28	chr4:99479200-99487200	Weak transcription	NHLF	lung
29	chr4:99479600-99482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:99479800-99485800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:99479800-99486800	Weak transcription	Spleen	Spleen
32	chr4:99479800-99487000	Weak transcription	NHDF-Ad	bronchial
33	chr4:99480000-99486800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:99480200-99486000	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:99480200-99486000	Weak transcription	Ovary	ovary
36	chr4:99480200-99486000	Weak transcription	Thymus	Thymus
37	chr4:99480400-99482200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:99480400-99486800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:99480400-99487200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr4:99480600-99486200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr4:99481200-99485600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:99481200-99486800	Weak transcription	Brain Germinal Matrix	brain
43	chr4:99481400-99482800	Weak transcription	Fetal Heart	heart
44	chr4:99481400-99484200	Weak transcription	Brain Substantia Nigra	brain
45	chr4:99481400-99485400	Weak transcription	Fetal Brain Male	brain
46	chr4:99481400-99485600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:99481400-99486000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:99481400-99486000	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:99481800-99482200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:99481800-99482200	Enhancers	Primary T helper cells PMA-I stimulated	--

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