Variant report

Variant	rs4258846
Chromosome Location	chr2:32402636-32402637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32389694..32394396-chr2:32399001..32405946,7	MCF-7	breast:
2	chr2:32401411..32403653-chr2:32405930..32408293,2	K562	blood:
3	chr2:32401110..32403653-chr2:32405850..32408293,2	K562	blood:

Variant related genes	Relation type
ENSG00000152683	Chromatin interaction
ENSG00000272716	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10208246	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11124278	0.97[ASN][1000 genomes]
rs11678119	0.86[ASN][1000 genomes]
rs11683760	0.80[ASN][1000 genomes]
rs11683842	0.80[ASN][1000 genomes]
rs11694630	0.87[ASN][1000 genomes]
rs12465351	0.94[ASN][1000 genomes]
rs12474598	0.87[ASN][1000 genomes]
rs12995952	0.84[ASN][1000 genomes]
rs12997026	0.97[ASN][1000 genomes]
rs13427170	0.96[ASN][1000 genomes]
rs212703	0.87[ASN][1000 genomes]
rs212738	0.98[ASN][1000 genomes]
rs212739	0.94[ASN][1000 genomes]
rs212740	0.80[ASN][1000 genomes]
rs212743	0.82[ASN][1000 genomes]
rs212746	0.81[ASN][1000 genomes]
rs2280973	0.87[ASN][1000 genomes]
rs2366736	0.82[ASN][1000 genomes]
rs2886393	0.82[ASN][1000 genomes]
rs34976640	0.82[ASN][1000 genomes]
rs3769602	0.88[ASN][1000 genomes]
rs4407291	0.91[ASN][1000 genomes]
rs4519572	0.91[ASN][1000 genomes]
rs4952209	0.91[ASN][1000 genomes]
rs4952252	0.91[ASN][1000 genomes]
rs56861054	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6716179	0.93[ASN][1000 genomes]
rs6717209	0.97[ASN][1000 genomes]
rs6723154	0.80[ASN][1000 genomes]
rs7572964	0.84[ASN][1000 genomes]
rs7581432	0.93[ASN][1000 genomes]
rs7588883	0.96[ASN][1000 genomes]
rs7592239	0.85[ASN][1000 genomes]
rs7592356	0.82[ASN][1000 genomes]
rs7604289	0.81[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	chr2:32391600-32402800	Weak transcription	Lung	lung
2	chr2:32391600-32403400	Weak transcription	Aorta	Aorta
3	chr2:32391600-32406600	Weak transcription	Small Intestine	intestine
4	chr2:32391600-32409600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:32391600-32426400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:32391600-32452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:32391800-32409600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:32391800-32431400	Weak transcription	Stomach Mucosa	stomach
9	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
10	chr2:32392000-32403600	Weak transcription	Fetal Kidney	kidney
11	chr2:32392000-32403800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:32392000-32403800	Weak transcription	HSMMtube	muscle
13	chr2:32392000-32414600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:32392000-32435800	Weak transcription	NHLF	lung
15	chr2:32392200-32403600	Weak transcription	HUVEC	blood vessel
16	chr2:32392200-32411600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:32392200-32422800	Weak transcription	Fetal Brain Male	brain
18	chr2:32392200-32445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:32392800-32410000	Weak transcription	Hela-S3	cervix
20	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:32393000-32412400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:32395400-32405600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:32396000-32403800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:32396000-32414000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:32396200-32404800	Strong transcription	Dnd41	blood
26	chr2:32396200-32405600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:32396200-32413600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:32396400-32404400	Strong transcription	HepG2	liver
29	chr2:32396800-32405200	Strong transcription	Fetal Muscle Leg	muscle
30	chr2:32397000-32404800	Strong transcription	HSMM	muscle
31	chr2:32397000-32405200	Strong transcription	Liver	Liver
32	chr2:32397000-32405200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:32397000-32405800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr2:32397200-32404400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:32397200-32404600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:32397200-32404800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:32397200-32404800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr2:32397200-32404800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:32397200-32405000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:32397200-32405200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:32397200-32405600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:32397200-32405800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr2:32397200-32408000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:32397400-32405600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr2:32397400-32406600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:32397600-32405400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr2:32397800-32405200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:32398200-32406000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:32398400-32406200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:32398400-32409400	Weak transcription	NHEK	skin

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