Variant report

Variant	rs13391023
Chromosome Location	chr2:153271782-153271783
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153265041..153269898-chr2:153270458..153273464,4	K562	blood:
2	chr2:153262402..153264231-chr2:153268942..153273243,3	K562	blood:
3	chr2:153264190..153266541-chr2:153270663..153273065,2	K562	blood:
4	chr2:153265232..153268503-chr2:153268822..153271827,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13386403	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs13396439	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13397890	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13405110	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13405868	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13414887	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13418748	0.89[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13419000	0.82[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13419948	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13427076	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs13428569	0.91[CEU][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13430448	0.91[CEU][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2345873	0.82[CEU][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3811577	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890370	0.82[CEU][hapmap];0.92[JPT][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4425036	0.82[JPT][hapmap]
rs56095564	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61292193	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6761815	0.91[CEU][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73967855	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73967856	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73967858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73967990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:76 , 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	chr2:153264200-153288200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:153264400-153274800	Enhancers	Brain Anterior Caudate	brain
4	chr2:153264400-153278000	Weak transcription	Fetal Kidney	kidney
5	chr2:153264600-153271800	Weak transcription	Right Atrium	heart
6	chr2:153264600-153277200	Enhancers	A549	lung
7	chr2:153265200-153274800	Weak transcription	Fetal Brain Male	brain
8	chr2:153265200-153278000	Weak transcription	Fetal Lung	lung
9	chr2:153265800-153272000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:153266000-153272800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:153266000-153278800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:153266200-153272600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:153266200-153279000	Enhancers	Brain Angular Gyrus	brain
14	chr2:153267000-153272000	Enhancers	NHEK	skin
15	chr2:153267000-153277000	Weak transcription	NHLF	lung
16	chr2:153267000-153278800	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:153267000-153279200	Enhancers	Brain Substantia Nigra	brain
18	chr2:153267200-153271800	Weak transcription	Gastric	stomach
19	chr2:153267200-153271800	Weak transcription	Lung	lung
20	chr2:153267600-153271800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:153267600-153271800	Weak transcription	Right Ventricle	heart
22	chr2:153268000-153271800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:153268000-153271800	Weak transcription	Osteobl	bone
24	chr2:153268200-153272000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:153268200-153277400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:153268400-153272600	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:153268600-153272000	Weak transcription	Adipose Nuclei	Adipose
28	chr2:153268600-153277000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:153268800-153274000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:153269200-153272200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:153269400-153271800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:153269800-153272200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:153269800-153272800	Enhancers	Hela-S3	cervix
34	chr2:153269800-153279200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:153270000-153274800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:153270200-153276200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:153270200-153278000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:153270200-153279800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:153270400-153272000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:153270400-153275200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:153270400-153277200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:153270400-153277400	Enhancers	Brain Hippocampus Middle	brain
43	chr2:153270400-153277600	Weak transcription	Small Intestine	intestine
44	chr2:153270400-153277800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:153270600-153271800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:153270600-153279800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:153270800-153272400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:153270800-153272800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:153270800-153272800	Enhancers	Pancreas	Pancrea
50	chr2:153270800-153276400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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