Variant report

Variant	rs9308815
Chromosome Location	chr2:99383776-99383777
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99344922..99348721-chr2:99382903..99389092,6	MCF-7	breast:
2	chr2:99379234..99380844-chr2:99381861..99384498,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10166044	0.81[ASN][1000 genomes]
rs10189330	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12615689	0.84[EUR][1000 genomes]
rs12999225	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13389386	0.83[ASN][1000 genomes]
rs1356424	0.81[ASN][1000 genomes]
rs6712597	0.83[ASN][1000 genomes]
rs6716514	0.83[ASN][1000 genomes]
rs6757099	0.81[ASN][1000 genomes]
rs7557295	0.85[ASN][1000 genomes]
rs7570815	0.86[ASN][1000 genomes]
rs7578035	0.84[EUR][1000 genomes]
rs7581128	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7581349	0.82[EUR][1000 genomes]
rs7582382	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99373800-99388000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:99375200-99386200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:99375200-99386400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:99376800-99384600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:99377000-99385000	Weak transcription	Spleen	Spleen
6	chr2:99377000-99386400	Weak transcription	Esophagus	oesophagus
7	chr2:99377800-99383800	Weak transcription	HUVEC	blood vessel
8	chr2:99378400-99385000	Weak transcription	Lung	lung
9	chr2:99378400-99385000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:99378400-99389400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:99378800-99388200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:99379200-99388200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:99379400-99385000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:99379400-99385200	Weak transcription	Fetal Brain Male	brain
15	chr2:99379400-99385200	Weak transcription	Right Atrium	heart
16	chr2:99379400-99386400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:99379400-99388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:99379800-99384800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:99380600-99387400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:99380600-99387400	Weak transcription	Adipose Nuclei	Adipose
21	chr2:99380800-99383800	Enhancers	Fetal Thymus	thymus
22	chr2:99381000-99386200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:99382000-99385000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:99382000-99386200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:99382000-99386800	Enhancers	GM12878-XiMat	blood
26	chr2:99382200-99385400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:99382200-99385400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:99382200-99385600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:99382200-99386400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:99382200-99386400	Enhancers	Duodenum Mucosa	Duodenum
31	chr2:99382400-99383800	Genic enhancers	Dnd41	blood
32	chr2:99382400-99384200	Enhancers	Fetal Intestine Large	intestine
33	chr2:99382400-99384200	Enhancers	Fetal Intestine Small	intestine
34	chr2:99382400-99384800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr2:99382400-99385400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:99382400-99386200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr2:99382400-99386200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:99382600-99383800	Weak transcription	Small Intestine	intestine
39	chr2:99382600-99384000	Enhancers	Pancreas	Pancrea
40	chr2:99382600-99385200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr2:99382600-99385400	Enhancers	Primary T cells from cord blood	blood
42	chr2:99382600-99386200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr2:99382800-99385000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:99383000-99384800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:99383000-99385000	Weak transcription	Fetal Brain Female	brain
46	chr2:99383200-99385000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:99383400-99385000	Enhancers	HepG2	liver
48	chr2:99383600-99385000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr2:99383600-99385200	Weak transcription	Stomach Mucosa	stomach
50	chr2:99383600-99385400	Weak transcription	Primary hematopoietic stem cells	blood

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