Variant report

Variant	rs17014836
Chromosome Location	chr1:209759616-209759617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209755400..209758215-chr1:209758415..209761254,2	K562	blood:
2	chr1:209754618..209756587-chr1:209758907..209761295,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000008118	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10489339	1.00[CHB][hapmap]
rs12084657	0.91[EUR][1000 genomes]
rs17014744	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17014768	0.94[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17014769	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17014810	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17014820	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17014822	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17014823	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17014830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014866	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs17388107	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2067744	0.91[EUR][1000 genomes]
rs55688212	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55709381	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55967608	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56025154	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56165413	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58987909	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60686175	0.91[EUR][1000 genomes]
rs61819949	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61822168	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61822169	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61822171	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61822172	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6540543	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6663545	0.86[EUR][1000 genomes]
rs6669549	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6698127	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs742253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512091	0.90[CEU][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes]
rs7516885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536585	0.94[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs880782	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs880783	1.00[CHB][hapmap];0.80[ASN][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209757000-209760000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr1:209757200-209759800	Enhancers	Fetal Heart	heart
3	chr1:209757800-209759800	Bivalent Enhancer	Fetal Stomach	stomach
4	chr1:209758000-209760000	Enhancers	Fetal Kidney	kidney
5	chr1:209758200-209763200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:209758800-209759800	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr1:209758800-209760000	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr1:209759000-209759800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:209759000-209759800	Bivalent Enhancer	Placenta	Placenta
10	chr1:209759000-209761600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:209759400-209759800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:209759400-209759800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:209759400-209759800	Flanking Active TSS	Fetal Brain Female	brain
14	chr1:209759400-209759800	Bivalent Enhancer	Osteobl	bone
15	chr1:209759400-209760000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:209759400-209760000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:209759400-209760000	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr1:209759400-209760600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
19	chr1:209759400-209761600	Enhancers	NH-A	brain
20	chr1:209759400-209762000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:209759400-209762000	Weak transcription	Left Ventricle	heart
22	chr1:209759400-209762200	Weak transcription	Spleen	Spleen
23	chr1:209759600-209759800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr1:209759600-209759800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:209759600-209759800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:209759600-209759800	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr1:209759600-209759800	Bivalent Enhancer	Fetal Intestine Small	intestine
28	chr1:209759600-209759800	Bivalent Enhancer	NHEK	skin
29	chr1:209759600-209760000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:209759600-209760000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:209759600-209760000	Enhancers	Brain Angular Gyrus	brain
32	chr1:209759600-209760000	Active TSS	Brain Anterior Caudate	brain
33	chr1:209759600-209760000	Active TSS	Fetal Brain Male	brain
34	chr1:209759600-209760200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr1:209759600-209760200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
36	chr1:209759600-209760400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr1:209759600-209760600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr1:209759600-209760600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
39	chr1:209759600-209760600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:209759600-209760600	Enhancers	Fetal Lung	lung
41	chr1:209759600-209760800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:209759600-209761000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
43	chr1:209759600-209761000	Weak transcription	HMEC	breast
44	chr1:209759600-209762200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:209759600-209762600	Weak transcription	Ovary	ovary
46	chr1:209759600-209763200	Weak transcription	HSMMtube	muscle
47	chr1:209759600-209763600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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