Variant report

Variant	rs2286214
Chromosome Location	chr22:31477563-31477564
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31476902-31478202	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr22:31477480-31477651	HepG2	liver:	n/a	n/a
3	MTA3	chr22:31476303-31477642	GM12878	blood:	n/a	n/a
4	CTCF	chr22:31477540-31477690	HPAF	blood vessel:	n/a	n/a
5	CREB1	chr22:31476341-31477662	HepG2	liver:	n/a	n/a
6	POLR2A	chr22:31476547-31478177	Hela-S3	cervix:	n/a	n/a
7	CREB1	chr22:31476643-31477582	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr22:31476846-31477636	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr22:31476814-31477563	K562	blood:	n/a	n/a
10	POLR2A	chr22:31476687-31477581	GM12892	blood:	n/a	n/a
11	POLR2A	chr22:31476500-31480070	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr22:31476722-31479551	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr22:31476749-31479505	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr22:31476756-31481293	K562	blood:	n/a	n/a
15	TAF1	chr22:31477033-31477575	HepG2	liver:	n/a	n/a
16	SIN3A	chr22:31476923-31477638	GM12878	blood:	n/a	chr22:31477469-31477478 chr22:31477251-31477262
17	POLR2A	chr22:31476607-31477754	K562	blood:	n/a	n/a
18	RCOR1	chr22:31476714-31477592	K562	blood:	n/a	n/a
19	POLR2A	chr22:31476742-31479351	U87	brain:	n/a	n/a
20	POLR2A	chr22:31476707-31479351	U87	brain:	n/a	n/a
21	MAX	chr22:31476965-31477628	K562	blood:	n/a	n/a
22	POLR2A	chr22:31476589-31477637	PANC-1	pancreas:	n/a	n/a
23	TAF1	chr22:31477028-31477690	A549	lung:	n/a	n/a
24	CTCF	chr22:31477520-31477670	HCM	heart:	n/a	n/a
25	POLR2A	chr22:31476610-31478212	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr22:31476619-31477676	MCF-7	breast:	n/a	n/a
27	PML	chr22:31476884-31477579	MCF-7	breast:	n/a	n/a
28	CTCF	chr22:31477560-31477710	GM12867	blood:	n/a	n/a
29	POLR2A	chr22:31476767-31477757	ProgFib	skin:	n/a	n/a
30	CTCF	chr22:31477560-31477710	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr22:31477500-31477650	HPAF	blood vessel:	n/a	n/a
32	ZEB1	chr22:31476711-31477582	GM12878	blood:	n/a	chr22:31476860-31476872
33	HMGN3	chr22:31476687-31477563	K562	blood:	n/a	n/a
34	CTCF	chr22:31477540-31477690	AG09309	skin:	n/a	n/a
35	ELF1	chr22:31477033-31477720	GM12878	blood:	n/a	chr22:31477500-31477511 chr22:31477500-31477511
36	MXI1	chr22:31476182-31479589	IMR90	lung:	n/a	chr22:31476473-31476488
37	CTCF	chr22:31477520-31477670	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr22:31477500-31477650	GM06990	blood:	n/a	n/a
39	TAF1	chr22:31476693-31477649	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr22:31476708-31478190	K562	blood:	n/a	n/a
41	CTCF	chr22:31477520-31477670	GM12872	blood:	n/a	n/a
42	PBX3	chr22:31476613-31477677	SK-N-SH	brain:	n/a	chr22:31476825-31476834
43	EGR1	chr22:31477311-31477710	K562	blood:	n/a	chr22:31477599-31477621 chr22:31477488-31477502
44	POLR2A	chr22:31476589-31478400	ECC-1	luminal epithelium:	n/a	n/a
45	CTCF	chr22:31477540-31477690	BJ	skin:	n/a	n/a
46	MAZ	chr22:31476725-31477655	K562	blood:	n/a	n/a
47	MAZ	chr22:31476644-31479105	IMR90	lung:	n/a	n/a
48	MXI1	chr22:31476233-31478019	SK-N-SH	brain:	n/a	chr22:31476473-31476488
49	POLR2A	chr22:31476526-31481808	K562	blood:	n/a	n/a
50	CTCF	chr22:31477460-31477610	SAEC	small airway:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31477530-31477580	BE2_C	brain:	n/a
2	chr22:31477530-31477580	T-47D	breast:	n/a
3	chr22:31477530-31477580	NHDF-neo	bronchial:	n/a
4	chr22:31477530-31477580	HCM	heart:	n/a
5	chr22:31477530-31477580	HepG2	liver:	n/a
6	chr22:31477530-31477580	Hela-S3	cervix:	n/a
7	chr22:31477530-31477580	GM12878	blood:	n/a
8	chr22:31477530-31477580	H1-hESC	embryonic stem cell:	embryo
9	chr22:31477530-31477580	NB4	blood:	n/a
10	chr22:31477530-31477580	SK-N-SH	brain:	n/a
11	chr22:31477530-31477580	BJ	skin:	n/a
12	chr22:31477530-31477580	HAEpiC	amniotic membrane:	n/a
13	chr22:31477530-31477580	HMEC	breast:	n/a
14	chr22:31477530-31477580	GM12892	blood:	n/a
15	chr22:31477530-31477580	PFSK-1	brain:	n/a
16	chr22:31477530-31477580	HPAEpiC	pulmonary alveolar:	n/a
17	chr22:31477530-31477580	LNCaP	prostate:	n/a
18	chr22:31477530-31477580	HUVEC	blood vessel:	n/a
19	chr22:31477530-31477580	SK-N-SH_RA	brain:	n/a
20	chr22:31477530-31477580	RPTEC	kidney:	n/a
21	chr22:31477530-31477580	MCF-7	breast:	n/a
22	chr22:31477530-31477580	SKMC	muscle:	n/a
23	chr22:31477530-31477580	NT2-D1	testis:	n/a
24	chr22:31477530-31477580	HEK293	kidney:	embryo
25	chr22:31477530-31477580	ovcar-3	ovarian:	n/a
26	chr22:31477530-31477580	ProgFib	skin:	n/a
27	chr22:31477530-31477580	HRE	kidney:	n/a
28	chr22:31477530-31477580	IMR90	lung:	fetal
29	chr22:31477530-31477580	GM12891	blood:	n/a
30	chr22:31477530-31477580	NHBE	bronchial:	n/a
31	chr22:31477530-31477580	HEEpiC	esophagus:	n/a
32	chr22:31477530-31477580	Jurkat	blood:	n/a
33	chr22:31477530-31477580	AG09309	skin:	n/a
34	chr22:31477530-31477580	AG04449	skin:	fetal
35	chr22:31477530-31477580	HL-60	blood:	n/a
36	chr22:31477530-31477580	AG09319	gingival:	n/a
37	chr22:31477530-31477580	MCF10A-Er-Src	breast:	n/a
38	chr22:31477530-31477580	AoSMC	blood vessel:	n/a
39	chr22:31477530-31477580	K562	blood:	n/a
40	chr22:31477530-31477580	HRPEpiC	eye:	n/a
41	chr22:31477530-31477580	HCPEpiC	choroid plexus:	n/a
42	chr22:31477530-31477580	PrEC	prostate:	n/a
43	chr22:31477530-31477580	HCF	heart:	n/a
44	chr22:31477530-31477580	HRCEpiC	kidney:	n/a
45	chr22:31477530-31477580	SAEC	small airway:	n/a
46	chr22:31477530-31477580	GM06990	blood:	n/a
47	chr22:31477530-31477580	PANC-1	pancreas:	n/a
48	chr22:31477530-31477580	ECC-1	luminal epithelium:	n/a
49	chr22:31477530-31477580	AG10803	skin:	n/a
50	chr22:31477530-31477580	U87	brain:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31475364..31478247-chr22:31499584..31502277,3	MCF-7	breast:
2	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
3	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:
4	chr17:56736226..56737884-chr22:31477314..31478907,2	MCF-7	breast:
5	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
6	chr22:31455769..31462183-chr22:31475245..31482356,13	K562	blood:
7	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
8	chr15:71407229..71409255-chr22:31476063..31478842,2	MCF-7	breast:
9	chr22:31458274..31462644-chr22:31476246..31482425,10	K562	blood:
10	chr22:31455775..31461842-chr22:31476267..31480955,13	MCF-7	breast:
11	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
12	chr22:31477195..31479122-chr22:31617258..31619966,2	MCF-7	breast:
13	chr22:31476560..31478859-chr22:31533468..31537086,3	MCF-7	breast:
14	chr22:31477105..31478805-chr22:31616514..31618888,2	MCF-7	breast:
15	chr22:31475291..31477772-chr3:161087457..161089639,2	MCF-7	breast:
16	chr22:31457775..31462699-chr22:31474304..31478789,5	MCF-7	breast:
17	chr22:31275930..31278516-chr22:31475630..31478083,2	K562	blood:

No data

Variant related genes	Relation type
SMTN	TF binding region
SMTN	CpG island
ENSG00000202077	Chromatin interaction
ENSG00000198832	Chromatin interaction
ENSG00000100078	Chromatin interaction
ENSG00000253352	Chromatin interaction
ENSG00000225362	Chromatin interaction
ENSG00000240186	Chromatin interaction
ENSG00000184792	Chromatin interaction
ENSG00000199695	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000183963	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11913100	1.00[AMR][1000 genomes]
rs16989281	0.83[GIH][hapmap];1.00[TSI][hapmap]
rs2285920	1.00[YRI][hapmap]
rs28461534	0.88[EUR][1000 genomes]
rs41282559	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56095120	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56169845	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753380	1.00[YRI][hapmap]
rs5753409	1.00[YRI][hapmap]
rs5753416	1.00[YRI][hapmap]
rs5753425	1.00[YRI][hapmap]
rs61529391	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62236113	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62236114	1.00[AMR][1000 genomes]
rs62236115	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62236119	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62236120	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62236122	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62236124	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62236125	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62236126	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7284985	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7285584	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31476400-31477600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr22:31476400-31477800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:31476400-31477800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:31476400-31478000	Active TSS	Muscle Satellite Cultured Cells	--
5	chr22:31476400-31478200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr22:31476400-31478400	Active TSS	HSMM	muscle
7	chr22:31476400-31478800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr22:31476400-31479200	Active TSS	Fetal Kidney	kidney
9	chr22:31476600-31477600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:31476600-31477800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr22:31476600-31477800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:31476600-31477800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr22:31476600-31477800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:31476600-31477800	Flanking Active TSS	Liver	Liver
15	chr22:31476600-31477800	Active TSS	Brain Cingulate Gyrus	brain
16	chr22:31476600-31478000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr22:31476600-31478000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr22:31476600-31478200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr22:31476600-31478200	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr22:31476600-31478200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr22:31476600-31478200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:31476600-31478400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr22:31476600-31478800	Flanking Active TSS	Placenta	Placenta
24	chr22:31476600-31478800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr22:31476600-31479200	Active TSS	Aorta	Aorta
26	chr22:31476600-31479200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr22:31476600-31479600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr22:31476600-31480400	Active TSS	Brain Angular Gyrus	brain
29	chr22:31476800-31477600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:31476800-31477600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr22:31476800-31477600	Active TSS	Brain Germinal Matrix	brain
32	chr22:31476800-31477600	Enhancers	Fetal Heart	heart
33	chr22:31476800-31477600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr22:31476800-31477600	Active TSS	Stomach Mucosa	stomach
35	chr22:31476800-31477600	Active TSS	Hela-S3	cervix
36	chr22:31476800-31477800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr22:31476800-31477800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr22:31476800-31477800	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr22:31476800-31477800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr22:31476800-31477800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr22:31476800-31477800	Active TSS	Colon Smooth Muscle	Colon
42	chr22:31476800-31477800	Active TSS	Esophagus	oesophagus
43	chr22:31476800-31477800	Active TSS	Fetal Intestine Small	intestine
44	chr22:31476800-31477800	Active TSS	Fetal Lung	lung
45	chr22:31476800-31477800	Active TSS	Pancreas	Pancrea
46	chr22:31476800-31477800	Active TSS	Placenta Amnion	Placenta Amnion
47	chr22:31476800-31477800	Active TSS	A549	lung
48	chr22:31476800-31478000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr22:31476800-31478000	Active TSS	Fetal Intestine Large	intestine
50	chr22:31476800-31478000	Active TSS	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links