Variant report

Variant	rs13023231
Chromosome Location	chr2:64215748-64215749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10168446	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10199273	0.91[ASN][1000 genomes]
rs11125987	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11682249	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11692514	0.92[ASN][1000 genomes]
rs12991346	0.87[ASN][1000 genomes]
rs13014371	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13021953	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13034625	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1421093	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1440003	0.87[ASN][1000 genomes]
rs329479	0.84[ASN][1000 genomes]
rs329480	0.91[ASN][1000 genomes]
rs329489	0.90[ASN][1000 genomes]
rs34506208	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34688719	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4616468	0.88[ASN][1000 genomes]
rs6546031	0.85[ASN][1000 genomes]
rs6546036	0.81[ASN][1000 genomes]
rs6546041	0.95[ASN][1000 genomes]
rs67247064	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6758381	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6759483	0.85[EUR][1000 genomes];0.86[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	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
3	chr2:64176000-64228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:64186800-64216200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:64194000-64243200	Weak transcription	NHLF	lung
7	chr2:64198600-64228000	Weak transcription	Right Ventricle	heart
8	chr2:64202800-64232400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:64203200-64228400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:64203400-64228000	Weak transcription	Ovary	ovary
11	chr2:64203600-64216400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:64203600-64218800	Weak transcription	Gastric	stomach
13	chr2:64203600-64221400	Weak transcription	HMEC	breast
14	chr2:64204200-64227600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:64205200-64216800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:64205600-64216000	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:64205600-64217600	Weak transcription	Osteobl	bone
18	chr2:64205600-64220800	Weak transcription	Thymus	Thymus
19	chr2:64205600-64228000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:64205800-64216200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:64209000-64216200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:64209000-64229200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:64209200-64216200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:64209200-64219400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:64209400-64244800	Weak transcription	HSMM	muscle
26	chr2:64209800-64215800	Weak transcription	Fetal Kidney	kidney
27	chr2:64210000-64216600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:64210200-64215800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:64210200-64215800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:64210200-64216200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:64210200-64216400	Weak transcription	Left Ventricle	heart
32	chr2:64210200-64216600	Weak transcription	Fetal Lung	lung
33	chr2:64210200-64220400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:64210200-64221200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:64210200-64222000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:64210200-64243000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:64210400-64216200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:64210600-64216200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:64211400-64216600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:64211600-64215800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:64211600-64216000	Weak transcription	Primary B cells from cord blood	blood
42	chr2:64211800-64217200	Weak transcription	Dnd41	blood
43	chr2:64212000-64216600	Weak transcription	Primary T cells from cord blood	blood
44	chr2:64212600-64216200	Weak transcription	Fetal Thymus	thymus
45	chr2:64212600-64216800	Weak transcription	GM12878-XiMat	blood
46	chr2:64212600-64217200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:64212600-64218600	Weak transcription	Pancreas	Pancrea
48	chr2:64212600-64222200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:64212800-64216800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:64212800-64228400	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links