Variant report

Variant	rs41283417
Chromosome Location	chr17:38297716-38297717
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38189430..38192064-chr17:38296302..38298504,2	MCF-7	breast:
2	chr17:38276870..38280410-chr17:38295018..38299576,8	K562	blood:
3	chr17:38296494..38299896-chr17:38301046..38306469,5	MCF-7	breast:
4	chr17:38297374..38299356-chr17:38318190..38321108,2	K562	blood:
5	chr17:38255988..38258755-chr17:38294920..38298049,5	MCF-7	breast:
6	chr1:11966839..11968564-chr17:38295353..38297893,2	MCF-7	breast:
7	chr17:38295337..38298287-chr17:38335911..38338281,4	MCF-7	breast:
8	chr17:38295543..38297731-chr17:38305864..38307419,2	K562	blood:
9	chr17:38217616..38219835-chr17:38296248..38299363,4	K562	blood:
10	chr17:38286057..38289374-chr17:38292923..38299441,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188895	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000221555	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000126368	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10512482	1.00[EUR][1000 genomes]
rs1104761	0.92[EUR][1000 genomes]
rs11540720	1.00[EUR][1000 genomes]
rs12103533	1.00[EUR][1000 genomes]
rs15685	0.92[EUR][1000 genomes]
rs16965660	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16965669	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16965734	1.00[EUR][1000 genomes]
rs16965736	1.00[EUR][1000 genomes]
rs16965748	1.00[EUR][1000 genomes]
rs17616543	0.92[EUR][1000 genomes]
rs17616672	0.92[EUR][1000 genomes]
rs17616879	0.92[EUR][1000 genomes]
rs17617263	0.92[EUR][1000 genomes]
rs17678817	0.92[EUR][1000 genomes]
rs17678959	0.92[EUR][1000 genomes]
rs17678990	0.92[EUR][1000 genomes]
rs17679086	0.92[EUR][1000 genomes]
rs17679361	0.92[EUR][1000 genomes]
rs17680217	0.92[EUR][1000 genomes]
rs17680410	0.92[EUR][1000 genomes]
rs17680507	0.92[EUR][1000 genomes]
rs2229773	0.92[EUR][1000 genomes]
rs28362320	1.00[EUR][1000 genomes]
rs28362321	0.92[EUR][1000 genomes]
rs28526298	1.00[EUR][1000 genomes]
rs33998939	0.92[EUR][1000 genomes]
rs34270904	1.00[EUR][1000 genomes]
rs34300454	1.00[EUR][1000 genomes]
rs35783632	0.92[EUR][1000 genomes]
rs35898909	0.92[EUR][1000 genomes]
rs41283423	0.92[EUR][1000 genomes]
rs4134993	0.92[EUR][1000 genomes]
rs4134998	0.92[EUR][1000 genomes]
rs4135005	0.92[EUR][1000 genomes]
rs4135007	0.92[EUR][1000 genomes]
rs4135012	0.92[EUR][1000 genomes]
rs4135019	0.92[EUR][1000 genomes]
rs4135021	0.92[EUR][1000 genomes]
rs4135027	0.92[EUR][1000 genomes]
rs4135030	0.92[EUR][1000 genomes]
rs45612441	0.92[EUR][1000 genomes]
rs8067519	1.00[EUR][1000 genomes]
rs8071687	1.00[EUR][1000 genomes]
rs8077482	1.00[EUR][1000 genomes]
rs9889905	0.85[EUR][1000 genomes]
rs9891944	0.92[EUR][1000 genomes]
rs9894364	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9894807	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9898500	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9899425	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900154	1.00[EUR][1000 genomes]
rs9903261	0.95[AFR][1000 genomes]
rs9903293	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9906274	0.92[EUR][1000 genomes]
rs9909777	1.00[EUR][1000 genomes]
rs9909811	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9910373	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9915775	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38295800-38297800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:38295800-38297800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:38295800-38297800	Active TSS	Psoas Muscle	Psoas
4	chr17:38295800-38298200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr17:38296000-38297800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr17:38296000-38298200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr17:38296200-38297800	Active TSS	Right Ventricle	heart
8	chr17:38296200-38297800	Active TSS	HSMM	muscle
9	chr17:38296200-38297800	Active TSS	NHLF	lung
10	chr17:38296400-38298000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr17:38297000-38298000	Active TSS	Right Atrium	heart
12	chr17:38297200-38297800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:38297200-38297800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr17:38297200-38297800	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr17:38297200-38297800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr17:38297200-38297800	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr17:38297200-38297800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr17:38297200-38297800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr17:38297200-38297800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:38297200-38297800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:38297200-38297800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:38297200-38297800	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr17:38297200-38297800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr17:38297200-38297800	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr17:38297200-38297800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr17:38297200-38297800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr17:38297200-38297800	Flanking Active TSS	HMEC	breast
28	chr17:38297200-38297800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr17:38297200-38297800	Flanking Active TSS	Osteobl	bone
30	chr17:38297200-38298000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr17:38297200-38298000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:38297200-38298000	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr17:38297200-38298000	Enhancers	Spleen	Spleen
34	chr17:38297400-38297800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
35	chr17:38297400-38297800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr17:38297400-38297800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr17:38297400-38297800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr17:38297400-38297800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:38297400-38297800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr17:38297400-38297800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr17:38297400-38297800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr17:38297400-38297800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:38297400-38297800	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
44	chr17:38297400-38297800	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr17:38297400-38297800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr17:38297400-38297800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr17:38297400-38297800	Flanking Active TSS	Fetal Heart	heart
48	chr17:38297400-38297800	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr17:38297400-38297800	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr17:38297400-38297800	Flanking Active TSS	Fetal Kidney	kidney

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