Variant report

Variant	rs2062158
Chromosome Location	chr3:138655999-138656000
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:138655209..138657640-chr3:138920861..138922707,2	MCF-7	breast:
2	chr3:138655774..138657700-chr3:138692387..138694349,2	K562	blood:
3	chr3:138655102..138656710-chr3:138945646..138947395,2	K562	blood:
4	chr3:138640908..138642658-chr3:138654077..138656499,2	K562	blood:
5	chr3:138654402..138658110-chr3:139047575..139051045,3	K562	blood:
6	chr3:138655696..138657918-chr3:138697620..138699294,2	K562	blood:
7	chr3:138369214..138371379-chr3:138655274..138656934,2	K562	blood:
8	chr3:138648109..138650987-chr3:138654230..138656484,2	MCF-7	breast:
9	chr3:138654852..138656122-chr3:139047855..139048698,3	MCF-7	breast:
10	chr3:138654619..138656713-chr3:138694256..138696204,2	K562	blood:
11	chr3:138654476..138656121-chr3:138659491..138661137,2	MCF-7	breast:

No data

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10804660	0.98[ASN][1000 genomes]
rs10804661	0.90[ASN][1000 genomes]
rs10804662	0.98[ASN][1000 genomes]
rs12106771	0.98[ASN][1000 genomes]
rs12107422	0.98[ASN][1000 genomes]
rs12107433	0.98[ASN][1000 genomes]
rs12108191	0.98[ASN][1000 genomes]
rs28684522	0.93[ASN][1000 genomes]
rs28685198	0.96[ASN][1000 genomes]
rs34544655	0.98[ASN][1000 genomes]
rs34829168	0.98[ASN][1000 genomes]
rs35153706	0.97[ASN][1000 genomes]
rs35425443	0.98[ASN][1000 genomes]
rs35936011	0.97[ASN][1000 genomes]
rs3816758	0.82[ASN][1000 genomes]
rs4894332	0.98[ASN][1000 genomes]
rs4894333	0.98[ASN][1000 genomes]
rs56799713	0.82[ASN][1000 genomes]
rs61054051	0.91[ASN][1000 genomes]
rs61176178	0.98[ASN][1000 genomes]
rs61407395	0.98[ASN][1000 genomes]
rs7641916	0.82[ASN][1000 genomes]
rs7641989	0.82[ASN][1000 genomes]
rs900442	0.92[ASN][1000 genomes]
rs936663	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv877540	chr3:138645013-138670695	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv877541	chr3:138645013-138673922	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv877542	chr3:138645013-138750904	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138654400-138656200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr3:138654400-138656400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:138654400-138656600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:138654600-138656000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
5	chr3:138654600-138656000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
6	chr3:138654600-138656400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
7	chr3:138654600-138656600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:138654600-138657400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
9	chr3:138654600-138657600	Enhancers	Pancreas	Pancrea
10	chr3:138654600-138657800	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr3:138654600-138659200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr3:138654800-138656000	Enhancers	Gastric	stomach
13	chr3:138654800-138656000	Bivalent/Poised TSS	NHLF	lung
14	chr3:138654800-138656200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr3:138654800-138656200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:138654800-138656200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:138654800-138656200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
18	chr3:138654800-138656200	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
19	chr3:138654800-138656200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
20	chr3:138654800-138659000	Bivalent Enhancer	Liver	Liver
21	chr3:138655000-138656000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
22	chr3:138655200-138656200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:138655200-138656200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:138655200-138656200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
25	chr3:138655200-138656400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
26	chr3:138655200-138657600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:138655200-138659000	Bivalent Enhancer	Placenta	Placenta
28	chr3:138655200-138659000	Bivalent Enhancer	Fetal Thymus	thymus
29	chr3:138655200-138659200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:138655200-138659200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr3:138655400-138656000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr3:138655400-138656000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr3:138655400-138656000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr3:138655400-138656000	Bivalent/Poised TSS	Aorta	Aorta
35	chr3:138655400-138656000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
36	chr3:138655400-138656000	Flanking Active TSS	Psoas Muscle	Psoas
37	chr3:138655400-138656000	Bivalent/Poised TSS	Thymus	Thymus
38	chr3:138655400-138656000	Bivalent Enhancer	HUVEC	blood vessel
39	chr3:138655400-138656200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:138655400-138656600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:138655400-138656800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
42	chr3:138655400-138656800	Bivalent Enhancer	Esophagus	oesophagus
43	chr3:138655400-138658200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:138655400-138658200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr3:138655400-138658600	Bivalent Enhancer	Fetal Stomach	stomach
46	chr3:138655400-138659000	Bivalent Enhancer	Left Ventricle	heart
47	chr3:138655400-138659200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr3:138655400-138659200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
49	chr3:138655400-138659200	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr3:138655600-138656000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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