Variant report

Variant	rs10207273
Chromosome Location	chr2:231300416-231300417
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231299092..231301889-chr2:231304564..231307133,2	K562	blood:
2	chr2:231299092..231300895-chr2:231303797..231306064,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12694864	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694866	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694869	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13000381	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017297	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10207273	LOC93349	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231283600-231309200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:231284200-231301000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:231284200-231304000	Weak transcription	NH-A	brain
4	chr2:231284600-231306200	Weak transcription	HMEC	breast
5	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
6	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
7	chr2:231289000-231309200	Weak transcription	Aorta	Aorta
8	chr2:231294000-231301200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:231294200-231309600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:231294200-231311600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:231295200-231301000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:231295200-231309200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:231295400-231300800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:231295400-231306400	Weak transcription	HSMM	muscle
15	chr2:231295600-231301000	Weak transcription	Placenta	Placenta
16	chr2:231295800-231307800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:231295800-231309000	Weak transcription	Small Intestine	intestine
18	chr2:231296000-231309400	Weak transcription	Colonic Mucosa	Colon
19	chr2:231296000-231310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:231296200-231301200	Weak transcription	Lung	lung
21	chr2:231296200-231301200	Weak transcription	Ovary	ovary
22	chr2:231296200-231308400	Weak transcription	Gastric	stomach
23	chr2:231296200-231309200	Weak transcription	Fetal Stomach	stomach
24	chr2:231296200-231309200	Weak transcription	Spleen	Spleen
25	chr2:231296400-231300600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:231296400-231307600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:231296600-231300600	Weak transcription	Primary T cells from cord blood	blood
28	chr2:231296600-231303800	ZNF genes & repeats	GM12878-XiMat	blood
29	chr2:231296800-231300600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:231296800-231301000	Weak transcription	Adipose Nuclei	Adipose
31	chr2:231298000-231301000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:231298200-231301200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:231299200-231300600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr2:231299200-231301800	ZNF genes & repeats	Dnd41	blood
35	chr2:231299400-231300600	Enhancers	NHLF	lung
36	chr2:231299400-231301400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr2:231299600-231308200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:231299800-231300600	Strong transcription	Primary B cells from cord blood	blood
39	chr2:231299800-231300600	Weak transcription	Osteobl	bone
40	chr2:231299800-231301600	Weak transcription	NHDF-Ad	bronchial
41	chr2:231299800-231301800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:231299800-231306000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:231300000-231300600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:231300000-231301000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:231300000-231301000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:231300200-231300600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:231300200-231300600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:231300200-231300600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr2:231300200-231301000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr2:231300200-231301200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood

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