Variant report

Variant	rs2063997
Chromosome Location	chr14:77902418-77902419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77901718..77904032-chr14:77922483..77925130,2	MCF-7	breast:
2	chr14:77898431..77900947-chr14:77901863..77904262,2	MCF-7	breast:
3	chr14:77901715..77909086-chr14:77922032..77926412,10	MCF-7	breast:
4	chr14:77889939..77893252-chr14:77901202..77905310,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100591	Chromatin interaction
ENSG00000151445	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10143629	0.86[ASN][1000 genomes]
rs10149037	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1061629	0.87[CHD][hapmap]
rs11159261	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs11539461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11623826	0.87[CHD][hapmap]
rs11624314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11625365	0.87[CHD][hapmap]
rs11844300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12432582	0.95[ASN][1000 genomes]
rs12433120	0.84[AMR][1000 genomes]
rs12433521	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12434419	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12435136	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs12435676	1.00[ASN][1000 genomes]
rs12897689	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13379432	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17105749	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs176781	0.87[CHD][hapmap]
rs17751406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17751412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17824034	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs17824214	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17824322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2091916	0.87[CHD][hapmap]
rs2242619	0.87[CHD][hapmap]
rs28583775	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28590531	0.81[AMR][1000 genomes]
rs3742737	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs3783985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs4223	0.87[CHD][hapmap]
rs4575469	0.87[CHD][hapmap]
rs4899652	1.00[JPT][hapmap]
rs4899655	0.87[CHD][hapmap]
rs4903578	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4903579	1.00[JPT][hapmap]
rs4903580	1.00[JPT][hapmap]
rs4903581	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs59010468	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6574374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7149534	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7155063	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.86[ASN][1000 genomes]
rs7156032	1.00[CHB][hapmap]
rs7156671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8005759	0.87[CHD][hapmap]
rs8007503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8012548	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8017215	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8018509	0.86[ASN][1000 genomes]
rs8020537	0.86[ASN][1000 genomes]
rs9323643	0.81[ASN][1000 genomes]
rs963283	0.87[CHD][hapmap]

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	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2063997	RBM25	cis	cerebellum	SCAN
rs2063997	ESRRB	cis	cerebellum	SCAN
rs2063997	AHSA1	cis	cerebellum	SCAN
rs2063997	ZDHHC22	cis	cerebellum	SCAN
rs2063997	TMED8	cis	cerebellum	SCAN
rs2063997	DPF3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77887000-77919800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:77887000-77920400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:77887200-77904200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr14:77887200-77910800	Strong transcription	Primary B cells from cord blood	blood
5	chr14:77887200-77920200	Strong transcription	Placenta	Placenta
6	chr14:77887200-77920600	Strong transcription	Primary T cells from cord blood	blood
7	chr14:77887400-77904200	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:77887400-77904400	Strong transcription	Adipose Nuclei	Adipose
9	chr14:77887400-77920000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr14:77887400-77920400	Strong transcription	Liver	Liver
11	chr14:77887600-77904200	Strong transcription	Brain Hippocampus Middle	brain
12	chr14:77887600-77904400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr14:77887600-77904400	Strong transcription	Stomach Smooth Muscle	stomach
14	chr14:77887600-77913000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:77887600-77920000	Strong transcription	Fetal Intestine Large	intestine
16	chr14:77887800-77904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:77887800-77904400	Strong transcription	Brain Angular Gyrus	brain
18	chr14:77887800-77920000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:77888000-77904000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr14:77888000-77904200	Strong transcription	Fetal Muscle Leg	muscle
21	chr14:77888000-77904200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr14:77888000-77920000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:77888200-77903800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:77888200-77920400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr14:77888400-77904400	Strong transcription	Fetal Brain Female	brain
26	chr14:77888400-77920000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr14:77888600-77903000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:77888600-77904200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:77888600-77904400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:77888600-77904400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr14:77888600-77920000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:77888600-77920600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:77888800-77902800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:77888800-77903600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:77888800-77903800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr14:77888800-77904200	Strong transcription	Dnd41	blood
37	chr14:77888800-77904400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:77889000-77904600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:77889200-77905000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr14:77889200-77920400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr14:77889400-77904200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:77889600-77920400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:77889800-77904600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:77890400-77904200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:77890600-77904200	Strong transcription	Fetal Lung	lung
46	chr14:77891600-77923200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr14:77892000-77903800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:77893000-77910800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:77893400-77907400	Weak transcription	K562	blood
50	chr14:77893800-77904200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links