Variant report

Variant	rs4985523
Chromosome Location	chr16:69797192-69797193
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:69784937..69786887-chr16:69796034..69797734,2	MCF-7	breast:
2	chr16:69776041..69778310-chr16:69796566..69798633,2	MCF-7	breast:
3	chr16:69787313..69790862-chr16:69792512..69798249,7	K562	blood:
4	chr16:69755811..69761889-chr16:69791851..69798633,14	K562	blood:
5	chr16:69794502..69797651-chr16:69808679..69811582,3	MCF-7	breast:
6	chr16:69787301..69791461-chr16:69794716..69798365,9	K562	blood:
7	chr16:69743672..69747154-chr16:69795617..69797836,3	MCF-7	breast:
8	chr16:69759185..69761889-chr16:69795379..69799385,4	K562	blood:
9	chr16:69795573..69798488-chr16:69807022..69810242,5	K562	blood:
10	chr16:69795431..69797350-chr16:69819161..69821145,2	MCF-7	breast:
11	chr16:69796931..69798764-chr16:69808695..69811400,3	MCF-7	breast:
12	chr16:69796345..69798404-chr16:69804172..69806496,2	MCF-7	breast:
13	chr16:69757858..69760516-chr16:69796168..69797980,2	MCF-7	breast:
14	chr16:69785030..69792317-chr16:69794435..69797821,11	MCF-7	breast:
15	chr16:69740285..69743443-chr16:69794568..69797700,3	MCF-7	breast:
16	chr16:69796024..69797928-chr16:69813694..69816439,2	MCF-7	breast:
17	chr16:69795982..69798244-chr16:69969705..69971242,2	K562	blood:
18	chr16:69760067..69762510-chr16:69795079..69797612,5	MCF-7	breast:
19	chr16:69794457..69798184-chr16:69807022..69810693,5	K562	blood:
20	chr16:69796609..69799065-chr16:69804390..69806464,2	K562	blood:
21	chr16:69795308..69797439-chr16:70322057..70323697,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252670	Chromatin interaction
ENSG00000198373	Chromatin interaction
ENSG00000238683	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000141101	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000181019	Chromatin interaction
ENSG00000262136	Chromatin interaction
ENSG00000261602	Chromatin interaction
ENSG00000260290	Chromatin interaction
ENSG00000252443	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10048108	0.84[EUR][1000 genomes]
rs10163235	0.84[EUR][1000 genomes]
rs10454066	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10500551	1.00[CEU][hapmap]
rs10852458	1.00[CEU][hapmap]
rs11075728	0.95[CEU][hapmap]
rs11075733	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11075734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1139178	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11639947	1.00[CEU][hapmap]
rs11641233	1.00[CEU][hapmap]
rs11641521	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11642030	0.95[CEU][hapmap]
rs11643817	0.83[AFR][1000 genomes]
rs11643926	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11644838	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11644914	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12232410	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs12446201	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12447883	0.82[EUR][1000 genomes]
rs12595869	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12596679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12596823	0.95[CEU][hapmap]
rs12925371	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1437135	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16958970	1.00[CEU][hapmap]
rs16959025	1.00[CEU][hapmap]
rs16959035	0.83[EUR][1000 genomes]
rs16959200	0.88[YRI][hapmap]
rs1800566	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1865965	0.82[EUR][1000 genomes]
rs2196574	0.85[EUR][1000 genomes]
rs2361838	1.00[CEU][hapmap]
rs2361839	0.84[EUR][1000 genomes]
rs3169315	1.00[CEU][hapmap]
rs3743673	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3811349	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4078387	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4464069	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4497676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4580150	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4985418	0.81[AFR][1000 genomes]
rs4985518	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55701476	0.87[EUR][1000 genomes]
rs55863174	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55992518	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56282083	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57488237	0.83[EUR][1000 genomes]
rs57518557	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57565297	0.82[EUR][1000 genomes]
rs59295369	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60231938	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61426398	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6499253	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6499255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs689455	0.85[EUR][1000 genomes]
rs7186002	0.85[EUR][1000 genomes]
rs7189424	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7198242	1.00[CEU][hapmap]
rs73579458	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73579497	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74029403	0.82[EUR][1000 genomes]
rs8044920	0.81[AFR][1000 genomes]
rs8045682	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8046314	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs8054096	0.82[EUR][1000 genomes]
rs8059345	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9788837	1.00[CEU][hapmap]
rs9921045	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9933526	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv524364	chr16:69745145-69803443	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised 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	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4985523	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69795600-69797200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:69795600-69797200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:69795600-69797200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr16:69795600-69797200	Active TSS	Fetal Kidney	kidney
5	chr16:69795600-69797200	Active TSS	NHLF	lung
6	chr16:69795600-69797400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:69795600-69797400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:69795600-69797600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:69795600-69797600	Active TSS	Right Atrium	heart
10	chr16:69795600-69797800	Active TSS	Colonic Mucosa	Colon
11	chr16:69795800-69797200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr16:69795800-69797200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr16:69795800-69797200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:69795800-69797200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:69795800-69797200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:69795800-69797200	Active TSS	Aorta	Aorta
17	chr16:69795800-69797200	Active TSS	Esophagus	oesophagus
18	chr16:69795800-69797200	Active TSS	Fetal Muscle Trunk	muscle
19	chr16:69795800-69797200	Active TSS	Right Ventricle	heart
20	chr16:69795800-69797200	Active TSS	GM12878-XiMat	blood
21	chr16:69795800-69797400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr16:69795800-69797400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:69795800-69797400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr16:69795800-69797400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:69795800-69797400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:69795800-69797400	Active TSS	Fetal Muscle Leg	muscle
27	chr16:69795800-69797400	Active TSS	Left Ventricle	heart
28	chr16:69795800-69797400	Active TSS	Ovary	ovary
29	chr16:69795800-69797400	Active TSS	HSMM	muscle
30	chr16:69795800-69797400	Active TSS	NHDF-Ad	bronchial
31	chr16:69795800-69797600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:69795800-69797600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:69795800-69797600	Active TSS	Psoas Muscle	Psoas
34	chr16:69795800-69797800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr16:69795800-69798000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:69796000-69797200	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr16:69796000-69797200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr16:69796000-69797200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:69796000-69797200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:69796000-69797200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:69796000-69797200	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr16:69796000-69797200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr16:69796000-69797200	Active TSS	Muscle Satellite Cultured Cells	--
44	chr16:69796000-69797200	Active TSS	Brain Anterior Caudate	brain
45	chr16:69796000-69797200	Active TSS	Colon Smooth Muscle	Colon
46	chr16:69796000-69797200	Active TSS	Lung	lung
47	chr16:69796000-69797200	Active TSS	Small Intestine	intestine
48	chr16:69796000-69797400	Active TSS	H1 Cell Line	embryonic stem cell
49	chr16:69796000-69797400	Active TSS	Fetal Brain Male	brain
50	chr16:69796000-69797400	Active TSS	Fetal Brain Female	brain

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