Variant report

Variant	rs9890785
Chromosome Location	chr17:16492726-16492727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16356587..16357174-chr17:16492379..16493346,2	K562	blood:
2	chr17:16439915..16440775-chr17:16492573..16493244,3	MCF-7	breast:
3	chr17:16492718..16493310-chr17:16592947..16593658,4	MCF-7	breast:
4	chr17:16487641..16489428-chr17:16491263..16493497,2	MCF-7	breast:
5	chr17:16492261..16494080-chr17:16495015..16497317,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170160	Chromatin interaction
ENSG00000266302	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1006561	1.00[EUR][1000 genomes]
rs16959784	1.00[EUR][1000 genomes]
rs16959831	1.00[EUR][1000 genomes]
rs16959832	1.00[EUR][1000 genomes]
rs16959849	1.00[EUR][1000 genomes]
rs28375510	1.00[EUR][1000 genomes]
rs28375681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28481713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28482815	1.00[EUR][1000 genomes]
rs57062804	1.00[EUR][1000 genomes]
rs57088651	1.00[EUR][1000 genomes]
rs57432974	1.00[EUR][1000 genomes]
rs6502511	1.00[EUR][1000 genomes]
rs6502512	1.00[EUR][1000 genomes]
rs7211497	1.00[EUR][1000 genomes]
rs7212777	1.00[EUR][1000 genomes]
rs7214389	1.00[EUR][1000 genomes]
rs7218171	1.00[EUR][1000 genomes]
rs7218177	1.00[EUR][1000 genomes]
rs7220797	1.00[EUR][1000 genomes]
rs7220867	1.00[EUR][1000 genomes]
rs7221073	1.00[EUR][1000 genomes]
rs7222107	1.00[EUR][1000 genomes]
rs73282666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73282673	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73282675	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73282678	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980200	1.00[EUR][1000 genomes]
rs8066377	1.00[EUR][1000 genomes]
rs8068846	1.00[EUR][1000 genomes]
rs8069772	1.00[EUR][1000 genomes]
rs8069951	1.00[EUR][1000 genomes]
rs9895317	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9899370	1.00[EUR][1000 genomes]
rs9900136	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900601	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9902632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9912467	1.00[EUR][1000 genomes]
rs9912759	1.00[EUR][1000 genomes]
rs9916250	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16491800-16493000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr17:16492000-16492800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:16492000-16492800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr17:16492000-16492800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr17:16492000-16492800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr17:16492000-16492800	Active TSS	Rectal Smooth Muscle	rectum
7	chr17:16492000-16492800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr17:16492000-16493000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:16492000-16493000	Active TSS	Brain Anterior Caudate	brain
10	chr17:16492000-16493000	Active TSS	Brain Cingulate Gyrus	brain
11	chr17:16492000-16493000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr17:16492000-16493000	Active TSS	Brain Hippocampus Middle	brain
13	chr17:16492000-16493000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr17:16492000-16493000	Active TSS	Fetal Brain Female	brain
15	chr17:16492000-16493000	Active TSS	HSMM	muscle
16	chr17:16492000-16493200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:16492000-16493200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr17:16492000-16493200	Active TSS	Stomach Smooth Muscle	stomach
19	chr17:16492200-16492800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr17:16492200-16492800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:16492200-16492800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:16492200-16492800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr17:16492200-16492800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:16492200-16492800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr17:16492200-16492800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr17:16492200-16492800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:16492200-16492800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:16492200-16492800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr17:16492200-16492800	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr17:16492200-16492800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
31	chr17:16492200-16492800	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr17:16492200-16492800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr17:16492200-16492800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr17:16492200-16492800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr17:16492200-16492800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr17:16492200-16492800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr17:16492200-16492800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
38	chr17:16492200-16492800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr17:16492200-16492800	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr17:16492200-16492800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:16492200-16492800	Active TSS	Aorta	Aorta
42	chr17:16492200-16492800	Active TSS	Colonic Mucosa	Colon
43	chr17:16492200-16492800	Active TSS	Esophagus	oesophagus
44	chr17:16492200-16492800	Active TSS	Fetal Kidney	kidney
45	chr17:16492200-16492800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr17:16492200-16492800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr17:16492200-16492800	Active TSS	Left Ventricle	heart
48	chr17:16492200-16492800	Active TSS	Lung	lung
49	chr17:16492200-16492800	Active TSS	Ovary	ovary
50	chr17:16492200-16492800	Flanking Active TSS	Pancreas	Pancrea

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