Variant report

Variant	rs7660385
Chromosome Location	chr4:89860819-89860820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10004888	0.87[ASN][1000 genomes]
rs10006121	0.87[ASN][1000 genomes]
rs10009019	0.87[ASN][1000 genomes]
rs10019681	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10025142	0.82[ASN][1000 genomes]
rs10028589	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10028596	0.87[ASN][1000 genomes]
rs10030965	0.87[ASN][1000 genomes]
rs10033484	0.86[ASN][1000 genomes]
rs10470937	0.87[ASN][1000 genomes]
rs11097206	0.83[ASN][1000 genomes]
rs11097208	0.82[ASN][1000 genomes]
rs11737016	0.84[ASN][1000 genomes]
rs11737182	0.87[ASN][1000 genomes]
rs11935610	0.82[ASN][1000 genomes]
rs12512799	0.86[ASN][1000 genomes]
rs12645240	0.82[ASN][1000 genomes]
rs12648534	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13148188	0.82[ASN][1000 genomes]
rs13328032	0.83[EUR][1000 genomes]
rs1458557	0.88[ASN][1000 genomes]
rs16996143	0.88[ASN][1000 genomes]
rs1903006	0.88[ASN][1000 genomes]
rs1903007	0.88[ASN][1000 genomes]
rs1921679	0.86[ASN][1000 genomes]
rs1921683	0.86[ASN][1000 genomes]
rs1921684	0.81[ASN][1000 genomes]
rs1961979	0.81[ASN][1000 genomes]
rs2085601	0.88[ASN][1000 genomes]
rs2178583	0.88[ASN][1000 genomes]
rs2178584	0.88[ASN][1000 genomes]
rs2178585	0.88[ASN][1000 genomes]
rs2609275	0.88[ASN][1000 genomes]
rs2704573	0.86[ASN][1000 genomes]
rs2704574	0.88[ASN][1000 genomes]
rs2704576	0.88[ASN][1000 genomes]
rs2704577	0.88[ASN][1000 genomes]
rs2704596	0.87[ASN][1000 genomes]
rs28529050	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28540701	0.87[ASN][1000 genomes]
rs2869969	0.84[ASN][1000 genomes]
rs2869971	0.81[ASN][1000 genomes]
rs2869972	0.81[ASN][1000 genomes]
rs2869973	0.86[ASN][1000 genomes]
rs28712360	0.82[ASN][1000 genomes]
rs2904261	0.81[ASN][1000 genomes]
rs34749134	0.90[ASN][1000 genomes]
rs34869341	0.82[ASN][1000 genomes]
rs35232147	0.83[ASN][1000 genomes]
rs35441198	0.85[ASN][1000 genomes]
rs4437212	0.82[ASN][1000 genomes]
rs4450885	0.80[ASN][1000 genomes]
rs4507326	0.85[ASN][1000 genomes]
rs4693975	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4693976	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4693977	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4693981	0.83[ASN][1000 genomes]
rs58281712	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62308745	0.87[EUR][1000 genomes]
rs62308746	0.88[EUR][1000 genomes]
rs62310476	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6532091	0.90[ASN][1000 genomes]
rs6815703	0.84[ASN][1000 genomes]
rs6819725	0.85[ASN][1000 genomes]
rs6827857	0.85[ASN][1000 genomes]
rs6834787	0.85[ASN][1000 genomes]
rs6835019	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6844655	0.85[ASN][1000 genomes]
rs6852947	0.88[ASN][1000 genomes]
rs7654714	0.82[ASN][1000 genomes]
rs7656238	0.81[ASN][1000 genomes]
rs7659904	0.82[ASN][1000 genomes]
rs7660314	0.82[ASN][1000 genomes]
rs7668636	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7680864	0.80[ASN][1000 genomes]
rs7686954	0.86[ASN][1000 genomes]
rs7687539	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7692455	0.85[ASN][1000 genomes]
rs7695732	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7697075	0.86[ASN][1000 genomes]
rs7697900	0.86[ASN][1000 genomes]
rs7697921	0.86[ASN][1000 genomes]
rs9307053	0.87[ASN][1000 genomes]
rs9307054	0.87[ASN][1000 genomes]
rs9307055	0.87[ASN][1000 genomes]
rs9307060	0.85[ASN][1000 genomes]
rs9307061	0.82[ASN][1000 genomes]
rs9991237	0.82[ASN][1000 genomes]
rs9991800	0.82[ASN][1000 genomes]
rs9995465	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv998651	chr4:89800245-89933445	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv537175	chr4:89800245-89933445	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv879532	chr4:89811195-89917135	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv879533	chr4:89832532-89917135	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv1829430	chr4:89853598-89908308	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	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	chr4:89825600-89878400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:89840800-89862800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:89845400-89866400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:89848400-89861000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:89850200-89878800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:89850400-89861200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:89851400-89883600	Weak transcription	Fetal Intestine Large	intestine
8	chr4:89852400-89885000	Weak transcription	Fetal Lung	lung
9	chr4:89852600-89865400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:89852600-89877800	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:89852600-89879200	Weak transcription	Fetal Stomach	stomach
12	chr4:89852600-89879400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:89854800-89865200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:89855800-89863200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:89856200-89861000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:89856200-89869200	Weak transcription	Left Ventricle	heart
17	chr4:89856400-89872000	Weak transcription	Aorta	Aorta
18	chr4:89857000-89867800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:89857400-89861600	Enhancers	Osteobl	bone
20	chr4:89857600-89865200	Weak transcription	K562	blood
21	chr4:89857800-89861200	Weak transcription	Psoas Muscle	Psoas
22	chr4:89857800-89865200	Weak transcription	Ovary	ovary
23	chr4:89857800-89865400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:89857800-89867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:89857800-89868200	Weak transcription	Placenta	Placenta
26	chr4:89857800-89869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:89857800-89872000	Weak transcription	Pancreas	Pancrea
28	chr4:89857800-89879400	Weak transcription	Lung	lung
29	chr4:89858000-89861600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:89858200-89861400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:89858200-89861600	Enhancers	NH-A	brain
32	chr4:89858200-89863000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:89858400-89866400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:89858800-89861600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr4:89858800-89861600	Enhancers	NHLF	lung
36	chr4:89859000-89861200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:89859000-89861600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:89859400-89861200	Enhancers	Brain Germinal Matrix	brain
39	chr4:89859600-89862800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:89859600-89867400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:89859600-89872000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:89859600-89877800	Weak transcription	Fetal Intestine Small	intestine
43	chr4:89859800-89863200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:89859800-89866400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:89860000-89861600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:89860000-89867600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:89860200-89861400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:89860200-89861400	Enhancers	Primary T cells from cord blood	blood
49	chr4:89860200-89864200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr4:89860200-89865400	Enhancers	Primary T helper cells PMA-I stimulated	--

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