Variant report

Variant	rs41280227
Chromosome Location	chr9:116025290-116025291
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116023106..116028620-chr9:116032404..116039334,10	MCF-7	breast:
2	chr9:116024571..116026114-chr9:116029017..116030804,2	K562	blood:
3	chr9:116024711..116027399-chr9:116031082..116034074,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176386	Chromatin interaction
ENSG00000136875	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12686377	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16930959	1.00[ASN][1000 genomes]
rs16931182	0.98[ASN][1000 genomes]
rs2233914	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28706447	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4355846	1.00[ASN][1000 genomes]
rs4641140	0.95[ASN][1000 genomes]
rs58039219	0.95[ASN][1000 genomes]
rs58930207	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59987461	0.95[ASN][1000 genomes]
rs7022516	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7046035	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7850029	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115996000-116031600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:116008200-116037000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:116009600-116029800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr9:116010200-116031800	Weak transcription	Fetal Heart	heart
5	chr9:116011400-116028800	Weak transcription	Fetal Kidney	kidney
6	chr9:116017400-116025800	Strong transcription	Fetal Muscle Leg	muscle
7	chr9:116017600-116026400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:116017600-116031800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:116017800-116025400	Strong transcription	Fetal Brain Female	brain
10	chr9:116017800-116026400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:116018000-116027600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:116018200-116026200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:116018400-116026000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:116018600-116026000	Strong transcription	Stomach Smooth Muscle	stomach
15	chr9:116018600-116036000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr9:116019000-116026000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:116019200-116025400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:116019200-116028800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr9:116019400-116025400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr9:116019400-116025800	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr9:116019600-116033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr9:116019800-116025400	Strong transcription	Placenta	Placenta
23	chr9:116020000-116029600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr9:116020200-116026000	Strong transcription	Brain Anterior Caudate	brain
25	chr9:116020600-116025600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:116020600-116027400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:116020600-116031600	Weak transcription	HUVEC	blood vessel
28	chr9:116020800-116025600	Strong transcription	Brain Germinal Matrix	brain
29	chr9:116021000-116036000	Strong transcription	Fetal Stomach	stomach
30	chr9:116021200-116031600	Weak transcription	Fetal Brain Male	brain
31	chr9:116021200-116032200	Weak transcription	Small Intestine	intestine
32	chr9:116021200-116032600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr9:116021400-116025600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr9:116021400-116029800	Weak transcription	Primary B cells from cord blood	blood
35	chr9:116021400-116032200	Weak transcription	Pancreas	Pancrea
36	chr9:116021800-116025400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:116022200-116025400	Strong transcription	Brain Angular Gyrus	brain
38	chr9:116022400-116036600	Weak transcription	Stomach Mucosa	stomach
39	chr9:116022600-116028600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr9:116022600-116029400	Weak transcription	NH-A	brain
41	chr9:116022600-116031600	Weak transcription	NHDF-Ad	bronchial
42	chr9:116022800-116027200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr9:116022800-116028600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr9:116022800-116028600	Weak transcription	Fetal Thymus	thymus
45	chr9:116022800-116029000	Weak transcription	A549	lung
46	chr9:116022800-116030200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr9:116022800-116030600	Weak transcription	K562	blood
48	chr9:116022800-116031600	Weak transcription	Psoas Muscle	Psoas
49	chr9:116022800-116031800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr9:116022800-116032200	Weak transcription	H9 Cell Line	embryonic stem cell

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