Variant report

Variant	rs3916026
Chromosome Location	chr2:182549012-182549013
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr2:182547872-182549023	H1-hESC	embryonic stem cell:	n/a	chr2:182548851-182548863 chr2:182548850-182548865
2	RAD21	chr2:182548391-182549127	H1-hESC	embryonic stem cell:	n/a	chr2:182549079-182549093
3	ZNF143	chr2:182548032-182549133	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:182547954-182549399	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr2:182548121-182549143	H1-neurons	neurons:	n/a	n/a
6	SUZ12	chr2:182546965-182550375	H1-hESC	embryonic stem cell:	n/a	n/a
7	SUZ12	chr2:182543491-182550280	NT2-D1	testis:	n/a	n/a
8	SIN3A	chr2:182548153-182549051	H1-hESC	embryonic stem cell:	n/a	chr2:182548855-182548866
9	CTBP2	chr2:182547074-182549554	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182546719..182548427-chr2:182548447..182551068,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGA4-1	chr2:182546597-182554169	NONHSAT075881

Variant related genes	Relation type
CERKL	TF binding region
NEUROD1	TF binding region
ENSG00000234595	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10930974	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12991856	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13019917	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13029498	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13032132	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1473295	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1866888	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3863939	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3910665	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4018756	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4666792	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7420169	1.00[JPT][hapmap]
rs7570291	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7583601	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834477	chr2:182438121-182593527	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182543600-182550200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:182545200-182549800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:182545200-182550000	Bivalent Enhancer	Fetal Thymus	thymus
4	chr2:182545200-182550200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:182545200-182550400	Bivalent Enhancer	Fetal Brain Male	brain
6	chr2:182545400-182549400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:182545800-182549400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr2:182546000-182550200	Weak transcription	Gastric	stomach
9	chr2:182547000-182550200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr2:182547200-182549400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr2:182547400-182550200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr2:182547400-182550400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr2:182547400-182550400	Bivalent Enhancer	Placenta	Placenta
14	chr2:182547600-182549200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr2:182547600-182549200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:182547600-182549800	Bivalent Enhancer	Lung	lung
17	chr2:182547600-182550200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:182547800-182549200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr2:182547800-182549200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:182547800-182549200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:182547800-182549200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:182547800-182549200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
23	chr2:182547800-182549200	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr2:182547800-182549400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:182547800-182549400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr2:182547800-182549600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:182547800-182549600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:182548000-182549200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:182548000-182549400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:182548000-182549600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr2:182548000-182550200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr2:182548400-182549200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr2:182548400-182549200	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr2:182548400-182549600	Bivalent Enhancer	Fetal Stomach	stomach
35	chr2:182548400-182549800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:182548600-182549200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
37	chr2:182548600-182549200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
38	chr2:182548600-182549200	Bivalent Enhancer	Fetal Intestine Large	intestine
39	chr2:182548600-182549200	Enhancers	Right Atrium	heart
40	chr2:182548600-182549200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
41	chr2:182548600-182549200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
42	chr2:182548600-182549400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:182548600-182549400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:182548600-182549600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
45	chr2:182548600-182550000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr2:182548600-182550000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
47	chr2:182548600-182550200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:182548800-182549200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:182548800-182549200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:182548800-182549200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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