Variant report

Variant	rs13029716
Chromosome Location	chr2:32404141-32404142
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	chr2:32389694..32394396-chr2:32399001..32405946,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272716	Chromatin interaction
ENSG00000152683	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11887458	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11895183	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895623	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13006302	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2145038	0.81[EUR][1000 genomes]
rs35245684	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35560333	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35653492	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3851309	0.89[ASN][1000 genomes]
rs58980266	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60386495	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60906113	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6543653	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6719805	0.88[ASN][1000 genomes]
rs6726255	0.81[EUR][1000 genomes]
rs6757121	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71446044	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71446045	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71446055	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71446056	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72493393	0.82[ASN][1000 genomes]
rs72863973	0.88[ASN][1000 genomes]
rs72863977	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7580118	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32391600-32406600	Weak transcription	Small Intestine	intestine
2	chr2:32391600-32409600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:32391600-32426400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:32391600-32452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:32391800-32409600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:32391800-32431400	Weak transcription	Stomach Mucosa	stomach
7	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
8	chr2:32392000-32414600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:32392000-32435800	Weak transcription	NHLF	lung
10	chr2:32392200-32411600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:32392200-32422800	Weak transcription	Fetal Brain Male	brain
12	chr2:32392200-32445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:32392800-32410000	Weak transcription	Hela-S3	cervix
14	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:32393000-32412400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:32395400-32405600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:32396000-32414000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:32396200-32404800	Strong transcription	Dnd41	blood
19	chr2:32396200-32405600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:32396200-32413600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:32396400-32404400	Strong transcription	HepG2	liver
22	chr2:32396800-32405200	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:32397000-32404800	Strong transcription	HSMM	muscle
24	chr2:32397000-32405200	Strong transcription	Liver	Liver
25	chr2:32397000-32405200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:32397000-32405800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:32397200-32404400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:32397200-32404600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:32397200-32404800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:32397200-32404800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr2:32397200-32404800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:32397200-32405000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:32397200-32405200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:32397200-32405600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr2:32397200-32405800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:32397200-32408000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:32397400-32405600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr2:32397400-32406600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:32397600-32405400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr2:32397800-32405200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:32398200-32406000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:32398400-32406200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:32398400-32409400	Weak transcription	NHEK	skin
44	chr2:32398400-32412400	Strong transcription	Fetal Intestine Small	intestine
45	chr2:32398800-32410000	Weak transcription	K562	blood
46	chr2:32399200-32449600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:32399600-32404600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:32399800-32404200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:32400000-32404400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:32400000-32404800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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