Variant report

Variant	rs45612441
Chromosome Location	chr17:38337818-38337819
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: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	chr17:38337616..38339944-chr17:38348078..38350196,2	K562	blood:
2	chr17:38274376..38281367-chr17:38331383..38338006,23	MCF-7	breast:
3	chr17:38331383..38339312-chr17:38470464..38480799,28	MCF-7	breast:
4	chr17:38295337..38298287-chr17:38335911..38338281,4	MCF-7	breast:
5	chr17:38337575..38339432-chr17:38344552..38346759,2	K562	blood:
6	chr17:38331368..38338782-chr17:38460574..38470405,11	MCF-7	breast:
7	chr17:38335879..38338134-chr17:38374200..38376894,2	MCF-7	breast:
8	chr17:38337621..38339131-chr17:38450249..38452283,2	MCF-7	breast:
9	chr17:38336165..38338939-chr17:38598006..38600043,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171475	Chromatin interaction
ENSG00000141753	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000131759	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10305288	1.00[AFR][1000 genomes]
rs10512482	0.92[EUR][1000 genomes]
rs1104761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11540720	0.92[EUR][1000 genomes]
rs12103533	0.92[EUR][1000 genomes]
rs15685	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16965660	0.92[EUR][1000 genomes]
rs16965669	0.92[EUR][1000 genomes]
rs16965734	0.92[EUR][1000 genomes]
rs16965736	0.92[EUR][1000 genomes]
rs16965748	0.92[EUR][1000 genomes]
rs16965774	0.92[EUR][1000 genomes]
rs16965778	0.92[EUR][1000 genomes]
rs17616365	1.00[AMR][1000 genomes]
rs17616543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17616672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17616879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17617263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17618397	1.00[AFR][1000 genomes]
rs17678817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17678959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17678990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17679038	1.00[AFR][1000 genomes]
rs17679086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17679361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17680704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2012667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28362320	0.92[EUR][1000 genomes]
rs28362321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28526298	0.92[EUR][1000 genomes]
rs33998939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34270904	0.92[EUR][1000 genomes]
rs34300454	0.92[EUR][1000 genomes]
rs35783632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35898909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41283417	0.92[EUR][1000 genomes]
rs41283423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4134993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4134998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7214783	0.85[EUR][1000 genomes]
rs8067519	0.92[EUR][1000 genomes]
rs8071687	0.92[EUR][1000 genomes]
rs8077482	0.92[EUR][1000 genomes]
rs9889905	0.92[EUR][1000 genomes]
rs9891944	1.00[EUR][1000 genomes]
rs9894364	0.92[EUR][1000 genomes]
rs9894807	0.92[EUR][1000 genomes]
rs9898500	0.92[EUR][1000 genomes]
rs9899425	0.92[EUR][1000 genomes]
rs9900154	0.92[EUR][1000 genomes]
rs9903293	0.92[EUR][1000 genomes]
rs9906274	1.00[EUR][1000 genomes]
rs9909777	0.92[EUR][1000 genomes]
rs9909811	0.92[EUR][1000 genomes]
rs9910373	0.92[EUR][1000 genomes]
rs9915775	0.92[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	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
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38331400-38338200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:38333200-38347000	Weak transcription	Brain Substantia Nigra	brain
3	chr17:38333600-38339000	Weak transcription	Left Ventricle	heart
4	chr17:38333600-38339800	Weak transcription	Primary T cells from cord blood	blood
5	chr17:38333600-38347000	Weak transcription	Fetal Lung	lung
6	chr17:38334000-38341400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:38334000-38347000	Weak transcription	HUVEC	blood vessel
8	chr17:38334200-38346800	Weak transcription	Spleen	Spleen
9	chr17:38334200-38347000	Weak transcription	GM12878-XiMat	blood
10	chr17:38334200-38347400	Weak transcription	Aorta	Aorta
11	chr17:38334400-38346800	Weak transcription	Colon Smooth Muscle	Colon
12	chr17:38334400-38346800	Weak transcription	Ovary	ovary
13	chr17:38334600-38339800	Enhancers	Fetal Muscle Leg	muscle
14	chr17:38334600-38345200	Weak transcription	Right Ventricle	heart
15	chr17:38334600-38346600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:38334600-38346800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:38335000-38345000	Weak transcription	Brain Germinal Matrix	brain
18	chr17:38335000-38345400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr17:38335000-38346400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr17:38335200-38338000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr17:38335200-38338200	Enhancers	Fetal Intestine Large	intestine
22	chr17:38335200-38338200	Genic enhancers	Fetal Intestine Small	intestine
23	chr17:38335200-38340400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr17:38335200-38346600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr17:38335200-38346800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:38335200-38346800	Weak transcription	Thymus	Thymus
27	chr17:38335200-38347000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:38335200-38347800	Weak transcription	Small Intestine	intestine
29	chr17:38335400-38340400	Weak transcription	Fetal Brain Female	brain
30	chr17:38335400-38346800	Weak transcription	Fetal Brain Male	brain
31	chr17:38335400-38347000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr17:38336000-38338000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr17:38336000-38338200	Strong transcription	Fetal Stomach	stomach
34	chr17:38336000-38339200	Enhancers	Fetal Heart	heart
35	chr17:38336200-38338000	Strong transcription	Dnd41	blood
36	chr17:38336200-38338800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:38336400-38338000	Enhancers	Liver	Liver
38	chr17:38336400-38347000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr17:38336400-38347000	Weak transcription	NHDF-Ad	bronchial
40	chr17:38336400-38347000	Weak transcription	NHLF	lung
41	chr17:38336600-38338000	Strong transcription	Placenta	Placenta
42	chr17:38336600-38346600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr17:38336600-38346600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:38336600-38346800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr17:38336800-38338000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr17:38336800-38339200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr17:38336800-38339600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:38336800-38339600	Enhancers	Fetal Muscle Trunk	muscle
49	chr17:38336800-38347400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr17:38337000-38338000	Enhancers	NHEK	skin

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