Variant report

Variant	rs10185998
Chromosome Location	chr2:183881569-183881570
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183864377..183866340-chr2:183880546..183882680,2	K562	blood:
2	chr2:183880310..183882449-chr2:183901204..183904043,2	K562	blood:
3	chr2:183879886..183882557-chr2:183885997..183888359,2	MCF-7	breast:
4	chr2:183879865..183881833-chr2:183884149..183886571,2	K562	blood:

Variant related genes	Relation type
ENSG00000061676	Chromatin interaction
ENSG00000202141	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10185562	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1400128	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2063873	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2368350	0.85[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60969946	0.81[AFR][1000 genomes]
rs908437	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs963107	0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10185998	CPXM2	trans	lymphoblastoid	seeQTL
rs10185998	PFN2	trans	lymphoblastoid	seeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183846000-183902000	Weak transcription	Lung	lung
3	chr2:183854000-183898800	Weak transcription	Fetal Brain Male	brain
4	chr2:183859600-183882000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:183859600-183899400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:183862400-183894400	Weak transcription	Placenta	Placenta
7	chr2:183866000-183881800	Weak transcription	Brain Germinal Matrix	brain
8	chr2:183866800-183881600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:183866800-183885400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:183866800-183889000	Weak transcription	Fetal Lung	lung
11	chr2:183866800-183889200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:183867800-183881800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:183867800-183889200	Weak transcription	Liver	Liver
14	chr2:183875000-183890000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:183875200-183882000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:183875200-183882000	Weak transcription	NH-A	brain
17	chr2:183875200-183884800	Weak transcription	Fetal Stomach	stomach
18	chr2:183875200-183885400	Weak transcription	NHDF-Ad	bronchial
19	chr2:183875200-183886000	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:183875200-183888600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:183875200-183891000	Weak transcription	Pancreas	Pancrea
22	chr2:183875200-183896200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:183875200-183896600	Weak transcription	Hela-S3	cervix
24	chr2:183875400-183885800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:183875400-183886400	Weak transcription	Fetal Kidney	kidney
26	chr2:183875400-183886600	Weak transcription	HSMM	muscle
27	chr2:183875400-183897000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:183875400-183899600	Weak transcription	HSMMtube	muscle
29	chr2:183875800-183886000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:183877000-183886000	Weak transcription	Osteobl	bone
31	chr2:183877400-183884400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:183877600-183881800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:183878000-183881600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr2:183878200-183883800	Weak transcription	NHEK	skin
35	chr2:183878400-183888600	Weak transcription	Adipose Nuclei	Adipose
36	chr2:183878600-183881800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:183878600-183889600	Weak transcription	Ovary	ovary
38	chr2:183878800-183881800	Weak transcription	Left Ventricle	heart
39	chr2:183878800-183882000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:183878800-183884800	Weak transcription	Right Atrium	heart
41	chr2:183878800-183886000	Weak transcription	Psoas Muscle	Psoas
42	chr2:183878800-183889600	Weak transcription	Gastric	stomach
43	chr2:183878800-183902000	Weak transcription	Esophagus	oesophagus
44	chr2:183879000-183881600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr2:183879200-183883000	Weak transcription	HMEC	breast
46	chr2:183879200-183900200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:183879400-183889200	Weak transcription	NHLF	lung
48	chr2:183879600-183890800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:183879600-183897600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:183879800-183882000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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