Variant report

Variant	rs2232841
Chromosome Location	chr17:17398363-17398364
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17379236..17381999-chr17:17395224..17401626,6	MCF-7	breast:
2	chr17:17396995..17404908-chr17:17406815..17414609,13	MCF-7	breast:
3	chr17:17380261..17384039-chr17:17397347..17401058,7	MCF-7	breast:
4	chr17:17338847..17340811-chr17:17396652..17398902,2	MCF-7	breast:
5	chr17:17282517..17284843-chr17:17397818..17399697,2	MCF-7	breast:
6	chr17:17396999..17399572-chr17:17585740..17587599,2	MCF-7	breast:
7	chr17:17398348..17401153-chr17:17494060..17496594,3	MCF-7	breast:
8	chr17:17139597..17142266-chr17:17398056..17400275,2	MCF-7	breast:
9	chr17:17398240..17400896-chr17:17493826..17497836,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133027	Chromatin interaction
ENSG00000264666	Chromatin interaction
ENSG00000108557	Chromatin interaction
ENSG00000141026	Chromatin interaction
ENSG00000264187	Chromatin interaction
ENSG00000154803	Chromatin interaction
ENSG00000265511	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1108740	0.95[EUR][1000 genomes]
rs17723136	1.00[EUR][1000 genomes]
rs2232830	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2232833	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs70965410	0.84[EUR][1000 genomes]
rs73292346	0.90[EUR][1000 genomes]
rs73292347	0.90[EUR][1000 genomes]
rs73292348	0.90[EUR][1000 genomes]
rs73292350	0.90[EUR][1000 genomes]
rs73292351	0.90[EUR][1000 genomes]
rs73292353	0.90[EUR][1000 genomes]
rs73294315	0.90[EUR][1000 genomes]
rs73294326	0.86[EUR][1000 genomes]
rs8066002	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv907732	chr17:17381764-17415217	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv907733	chr17:17381764-17422608	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv907734	chr17:17381764-17425858	Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv907737	chr17:17388167-17411030	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr17:17388000-17398600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr17:17391600-17398600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:17391600-17399600	Strong transcription	Dnd41	blood
4	chr17:17391800-17398600	Weak transcription	Fetal Kidney	kidney
5	chr17:17391800-17399800	Weak transcription	K562	blood
6	chr17:17395800-17398600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:17396000-17398400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:17396000-17398400	Weak transcription	A549	lung
9	chr17:17396200-17398400	Weak transcription	HMEC	breast
10	chr17:17396400-17398400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr17:17396600-17398600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:17396600-17399200	Weak transcription	Hela-S3	cervix
13	chr17:17396800-17398400	Weak transcription	HepG2	liver
14	chr17:17396800-17398600	Active TSS	Brain Anterior Caudate	brain
15	chr17:17396800-17398600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:17396800-17399200	Weak transcription	Aorta	Aorta
17	chr17:17397000-17398600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr17:17397000-17399600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr17:17397200-17398600	Active TSS	Brain Angular Gyrus	brain
20	chr17:17397200-17398600	Active TSS	Brain Cingulate Gyrus	brain
21	chr17:17397200-17398600	Enhancers	Fetal Brain Male	brain
22	chr17:17397200-17400400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr17:17397400-17398400	Active TSS	Right Ventricle	heart
24	chr17:17397400-17398600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr17:17397400-17398600	Active TSS	Left Ventricle	heart
26	chr17:17397400-17400400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:17397400-17400400	Active TSS	Right Atrium	heart
28	chr17:17397600-17398600	Active TSS	Fetal Brain Female	brain
29	chr17:17397600-17400400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:17397800-17398400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr17:17397800-17398400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr17:17397800-17398400	Active TSS	Brain Substantia Nigra	brain
33	chr17:17397800-17398400	Active TSS	Ovary	ovary
34	chr17:17397800-17398400	Active TSS	Rectal Smooth Muscle	rectum
35	chr17:17397800-17398600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr17:17397800-17398600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr17:17397800-17398600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
38	chr17:17397800-17398600	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr17:17397800-17398600	Enhancers	GM12878-XiMat	blood
40	chr17:17397800-17398800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr17:17397800-17399000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
42	chr17:17397800-17399000	Flanking Bivalent TSS/Enh	Thymus	Thymus
43	chr17:17397800-17399600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:17397800-17399600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr17:17397800-17399600	Flanking Active TSS	Liver	Liver
46	chr17:17397800-17399600	Flanking Active TSS	Pancreas	Pancrea
47	chr17:17397800-17399600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr17:17397800-17400000	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr17:17397800-17400200	Active TSS	Psoas Muscle	Psoas
50	chr17:17397800-17400200	Active TSS	HSMMtube	muscle

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