Variant report

Variant	rs36226881
Chromosome Location	chr2:87019206-87019207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr2:87018324-87019221	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:87019192-87019242	PANC-1	pancreas:	n/a
2	chr2:87019192-87019242	NHBE	bronchial:	n/a
3	chr2:87019192-87019242	HRE	kidney:	n/a
4	chr2:87019192-87019242	AG10803	skin:	n/a
5	chr2:87019192-87019242	GM12878	blood:	n/a
6	chr2:87019192-87019242	HCT-116	colon:	n/a
7	chr2:87019192-87019242	CMK	blood:	n/a
8	chr2:87019192-87019242	LNCaP	prostate:	n/a
9	chr2:87019192-87019242	GM12891	blood:	n/a
10	chr2:87019192-87019242	HCF	heart:	n/a
11	chr2:87019192-87019242	Hepatocyte	liver:	n/a
12	chr2:87019192-87019242	PFSK-1	brain:	n/a
13	chr2:87019192-87019242	HNPCEpiC	eye:	n/a
14	chr2:87019192-87019242	K562	blood:	n/a
15	chr2:87019192-87019242	AoSMC	blood vessel:	n/a
16	chr2:87019192-87019242	HPAEpiC	pulmonary alveolar:	n/a
17	chr2:87019192-87019242	ECC-1	luminal epithelium:	n/a
18	chr2:87019192-87019242	SKMC	muscle:	n/a
19	chr2:87019192-87019242	Caco-2	colon:	n/a
20	chr2:87019192-87019242	AG04450	lung:	fetal
21	chr2:87019192-87019242	AG09309	skin:	n/a
22	chr2:87019192-87019242	PrEC	prostate:	n/a
23	chr2:87019192-87019242	NH-A	brain:	n/a
24	chr2:87019192-87019242	MCF10A-Er-Src	breast:	n/a
25	chr2:87019192-87019242	SAEC	small airway:	n/a
26	chr2:87019192-87019242	AG09319	gingival:	n/a
27	chr2:87019192-87019242	Jurkat	blood:	n/a
28	chr2:87019192-87019242	SK-N-SH_RA	brain:	n/a
29	chr2:87019192-87019242	H1-hESC	embryonic stem cell:	embryo
30	chr2:87019192-87019242	RPTEC	kidney:	n/a
31	chr2:87019192-87019242	HIPEpiC	eye:	n/a
32	chr2:87019192-87019242	HEK293	kidney:	embryo
33	chr2:87019192-87019242	NHDF-neo	bronchial:	n/a
34	chr2:87019192-87019242	ovcar-3	ovarian:	n/a
35	chr2:87019192-87019242	BJ	skin:	n/a
36	chr2:87019192-87019242	SK-N-SH	brain:	n/a
37	chr2:87019192-87019242	SK-N-MC	brain:	n/a
38	chr2:87019192-87019242	HRCEpiC	kidney:	n/a
39	chr2:87019192-87019242	HRPEpiC	eye:	n/a
40	chr2:87019192-87019242	HUVEC	blood vessel:	n/a
41	chr2:87019192-87019242	HCPEpiC	choroid plexus:	n/a
42	chr2:87019192-87019242	A549	lung:	n/a
43	chr2:87019192-87019242	HAEpiC	amniotic membrane:	n/a
44	chr2:87019192-87019242	NT2-D1	testis:	n/a
45	chr2:87019192-87019242	HEEpiC	esophagus:	n/a
46	chr2:87019192-87019242	ProgFib	skin:	n/a
47	chr2:87019192-87019242	AG04449	skin:	fetal
48	chr2:87019192-87019242	MCF-7	breast:	n/a
49	chr2:87019192-87019242	GM12892	blood:	n/a
50	chr2:87019192-87019242	GM06990	blood:	n/a

No data

Variant related genes	Relation type
CD8A	TF binding region
CD8A	CpG island

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11890748	1.00[EUR][1000 genomes]
rs11893045	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11898171	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56216112	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56761572	1.00[EUR][1000 genomes]
rs57594790	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57627212	1.00[EUR][1000 genomes]
rs59013526	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59213426	1.00[EUR][1000 genomes]
rs60553565	1.00[EUR][1000 genomes]
rs73947270	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73947271	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7581404	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv10063	chr2:86940988-87084360	Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002420	chr2:86948835-87172715	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv874472	chr2:86961252-87071474	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1008817	chr2:86970406-87172715	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv14382	chr2:86972214-87174121	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv997982	chr2:86972834-87105864	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1007746	chr2:86972834-87172715	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv458585	chr2:86974318-87108211	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv582373	chr2:86974318-87108211	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1007307	chr2:86974563-87055214	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv535809	chr2:86974563-87055214	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv1003748	chr2:86975514-87032318	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv535810	chr2:86975514-87032318	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv1004572	chr2:86975514-87082883	Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
16	nsv535811	chr2:86975514-87082883	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87017600-87019600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
2	chr2:87017600-87020400	Active TSS	Thymus	Thymus
3	chr2:87018600-87019400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr2:87018600-87019600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr2:87018800-87019400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
6	chr2:87018800-87019400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
7	chr2:87018800-87019400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:87018800-87021000	Flanking Active TSS	Fetal Thymus	thymus
9	chr2:87018800-87022600	Weak transcription	Gastric	stomach
10	chr2:87019000-87019400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
11	chr2:87019000-87019600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
12	chr2:87019000-87019600	Enhancers	Spleen	Spleen
13	chr2:87019000-87021800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr2:87019200-87019400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
15	chr2:87019200-87019400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:87019200-87019600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr2:87019200-87020800	Bivalent Enhancer	Primary T cells from cord blood	blood
18	chr2:87019200-87020800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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