Variant report

Variant	rs966945
Chromosome Location	chr8:126030724-126030725
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	chr8:126009436..126011531-chr8:126030679..126034606,3	MCF-7	breast:
2	chr8:126010242..126013491-chr8:126029890..126034767,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104549	Chromatin interaction
ENSG00000253513	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10086228	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092712	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095967	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10096319	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10097947	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10104486	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10107270	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10111425	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1019705	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542195	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12546285	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12676128	0.94[ASN][1000 genomes]
rs13248796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13263702	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13264301	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13282919	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2217132	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288310	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288312	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2303522	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303525	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2384921	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28716650	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34818959	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4871568	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470326	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651230	0.81[AMR][1000 genomes]
rs6989556	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991343	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7003069	0.82[AMR][1000 genomes]
rs9297709	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126011800-126034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr8:126013400-126040400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:126013400-126042600	Weak transcription	Right Ventricle	heart
4	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:126014400-126031400	Strong transcription	NHDF-Ad	bronchial
6	chr8:126014600-126044000	Weak transcription	Stomach Mucosa	stomach
7	chr8:126015400-126036800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr8:126015400-126037400	Strong transcription	A549	lung
9	chr8:126015400-126037600	Strong transcription	HSMM	muscle
10	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:126015600-126031400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:126015600-126031600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:126015600-126037000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:126015600-126039000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:126015600-126041000	Strong transcription	Fetal Thymus	thymus
16	chr8:126015800-126037400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:126016000-126041400	Strong transcription	Liver	Liver
18	chr8:126016400-126036800	Strong transcription	K562	blood
19	chr8:126016600-126036400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:126017000-126035400	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:126017200-126036800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:126017600-126032400	Strong transcription	Fetal Muscle Leg	muscle
23	chr8:126017600-126037600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr8:126017800-126036800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:126017800-126037400	Strong transcription	HUVEC	blood vessel
26	chr8:126017800-126038400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:126018000-126037800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:126019200-126031600	Strong transcription	Osteobl	bone
29	chr8:126019600-126071800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:126021200-126041200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:126023400-126038400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr8:126024000-126037600	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr8:126024200-126038000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:126024400-126037400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:126024600-126043200	Weak transcription	Fetal Brain Male	brain
37	chr8:126025000-126030800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:126026200-126032000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:126026400-126032000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:126026400-126037600	Strong transcription	NH-A	brain
41	chr8:126026600-126038600	Strong transcription	Dnd41	blood
42	chr8:126027000-126037400	Strong transcription	Fetal Brain Female	brain
43	chr8:126027000-126037600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr8:126027200-126036600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:126027400-126038000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr8:126027600-126034200	Strong transcription	HSMMtube	muscle
47	chr8:126027600-126037600	Strong transcription	Primary T cells from cord blood	blood
48	chr8:126027600-126038400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr8:126027600-126044400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:126027800-126032200	Strong transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links