Variant report

Variant	rs13396439
Chromosome Location	chr2:153268514-153268515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153265041..153269898-chr2:153270458..153273464,4	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13386403	0.93[EUR][1000 genomes]
rs13391023	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13397890	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13402243	0.85[ASN][1000 genomes]
rs13405110	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13405868	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13414887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418748	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13419000	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13419948	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13427076	0.84[EUR][1000 genomes]
rs13428569	0.96[EUR][1000 genomes]
rs13430448	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2345873	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3811577	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3890370	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56095564	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61292193	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62180766	0.84[ASN][1000 genomes]
rs6761815	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73967855	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73967856	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73967858	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73967990	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:153252000-153269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:153261800-153268800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:153263000-153268800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:153264000-153268800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:153264200-153268800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:153264200-153288200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:153264400-153269400	Weak transcription	HSMMtube	muscle
9	chr2:153264400-153269600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:153264400-153270200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:153264400-153271200	Weak transcription	Aorta	Aorta
12	chr2:153264400-153274800	Enhancers	Brain Anterior Caudate	brain
13	chr2:153264400-153278000	Weak transcription	Fetal Kidney	kidney
14	chr2:153264600-153269800	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:153264600-153271800	Weak transcription	Right Atrium	heart
16	chr2:153264600-153277200	Enhancers	A549	lung
17	chr2:153265000-153269600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:153265200-153274800	Weak transcription	Fetal Brain Male	brain
19	chr2:153265200-153278000	Weak transcription	Fetal Lung	lung
20	chr2:153265800-153272000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:153266000-153268600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:153266000-153268800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:153266000-153268800	Enhancers	Pancreas	Pancrea
24	chr2:153266000-153268800	Enhancers	Hela-S3	cervix
25	chr2:153266000-153269000	Enhancers	HMEC	breast
26	chr2:153266000-153270400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:153266000-153272800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:153266000-153278800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:153266200-153268800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:153266200-153272600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:153266200-153279000	Enhancers	Brain Angular Gyrus	brain
32	chr2:153266400-153268800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr2:153266600-153268600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:153266600-153268600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:153266600-153268600	Enhancers	Stomach Mucosa	stomach
36	chr2:153266600-153268600	Enhancers	Spleen	Spleen
37	chr2:153266600-153268800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:153266600-153268800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:153266600-153270200	Enhancers	Placenta	Placenta
40	chr2:153266600-153270800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:153266800-153268600	Enhancers	Adipose Nuclei	Adipose
42	chr2:153266800-153270200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:153267000-153270200	Enhancers	HUVEC	blood vessel
44	chr2:153267000-153272000	Enhancers	NHEK	skin
45	chr2:153267000-153277000	Weak transcription	NHLF	lung
46	chr2:153267000-153278800	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:153267000-153279200	Enhancers	Brain Substantia Nigra	brain
48	chr2:153267200-153269400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr2:153267200-153269600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:153267200-153271000	Enhancers	HepG2	liver

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