Variant report

Variant	rs4281997
Chromosome Location	chr22:31494866-31494867
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr22:31494778-31494978	K562	blood:	n/a	chr22:31494960-31494974
2	MAX	chr22:31494428-31495252	H1-hESC	embryonic stem cell:	n/a	chr22:31494570-31494580
3	TBP	chr22:31494637-31494919	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr22:31494472-31495159	H1-hESC	embryonic stem cell:	n/a	n/a
5	HMGN3	chr22:31494620-31495169	K562	blood:	n/a	n/a
6	E2F6	chr22:31494568-31495334	H1-hESC	embryonic stem cell:	n/a	chr22:31494907-31494919 chr22:31494965-31494975
7	POLR2A	chr22:31494667-31494985	HUVEC	blood vessel:	n/a	n/a
8	MAX	chr22:31494422-31495340	H1-hESC	embryonic stem cell:	n/a	chr22:31494570-31494580
9	TAF1	chr22:31494619-31494946	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr22:31494567-31495145	K562	blood:	n/a	chr22:31494570-31494580
11	CCNT2	chr22:31494720-31494953	K562	blood:	n/a	n/a
12	E2F6	chr22:31494482-31495404	H1-hESC	embryonic stem cell:	n/a	chr22:31494907-31494919 chr22:31494965-31494975
13	E2F6	chr22:31494781-31495022	K562	blood:	n/a	chr22:31494907-31494919 chr22:31494965-31494975
14	MAZ	chr22:31494667-31495022	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31494860-31494910	T-47D	breast:	n/a
2	chr22:31494860-31494910	Hepatocyte	liver:	n/a
3	chr22:31494860-31494910	AG10803	skin:	n/a
4	chr22:31494860-31494910	NHDF-neo	bronchial:	n/a
5	chr22:31494860-31494910	PFSK-1	brain:	n/a
6	chr22:31494860-31494910	ProgFib	skin:	n/a
7	chr22:31494860-31494910	PANC-1	pancreas:	n/a
8	chr22:31494860-31494910	AG09319	gingival:	n/a
9	chr22:31494860-31494910	HCPEpiC	choroid plexus:	n/a
10	chr22:31494860-31494910	BJ	skin:	n/a
11	chr22:31494860-31494910	NB4	blood:	n/a
12	chr22:31494860-31494910	AG09309	skin:	n/a
13	chr22:31494860-31494910	ECC-1	luminal epithelium:	n/a
14	chr22:31494860-31494910	HRE	kidney:	n/a
15	chr22:31494860-31494910	HPAEpiC	pulmonary alveolar:	n/a
16	chr22:31494860-31494910	RPTEC	kidney:	n/a
17	chr22:31494860-31494910	HRCEpiC	kidney:	n/a
18	chr22:31494860-31494910	HepG2	liver:	n/a
19	chr22:31494860-31494910	HUVEC	blood vessel:	n/a
20	chr22:31494860-31494910	GM19239	blood:	n/a
21	chr22:31494860-31494910	SK-N-MC	brain:	n/a
22	chr22:31494860-31494910	NH-A	brain:	n/a
23	chr22:31494860-31494910	HRPEpiC	eye:	n/a
24	chr22:31494860-31494910	K562	blood:	n/a
25	chr22:31494860-31494910	CMK	blood:	n/a
26	chr22:31494860-31494910	Jurkat	blood:	n/a
27	chr22:31494860-31494910	AG04449	skin:	fetal
28	chr22:31494860-31494910	HEEpiC	esophagus:	n/a
29	chr22:31494860-31494910	SK-N-SH_RA	brain:	n/a
30	chr22:31494860-31494910	GM12878	blood:	n/a
31	chr22:31494860-31494910	HCM	heart:	n/a
32	chr22:31494860-31494910	HMEC	breast:	n/a
33	chr22:31494860-31494910	HIPEpiC	eye:	n/a
34	chr22:31494860-31494910	A549	lung:	n/a
35	chr22:31494860-31494910	AG04450	lung:	fetal
36	chr22:31494860-31494910	HAEpiC	amniotic membrane:	n/a
37	chr22:31494860-31494910	PrEC	prostate:	n/a
38	chr22:31494860-31494910	IMR90	lung:	fetal
39	chr22:31494860-31494910	HNPCEpiC	eye:	n/a
40	chr22:31494860-31494910	SKMC	muscle:	n/a
41	chr22:31494860-31494910	H1-hESC	embryonic stem cell:	embryo
42	chr22:31494860-31494910	SAEC	small airway:	n/a
43	chr22:31494860-31494910	U87	brain:	n/a
44	chr22:31494860-31494910	NHBE	bronchial:	n/a
45	chr22:31494860-31494910	SK-N-SH	brain:	n/a
46	chr22:31494860-31494910	NT2-D1	testis:	n/a
47	chr22:31494860-31494910	BE2_C	brain:	n/a
48	chr22:31494860-31494910	ovcar-3	ovarian:	n/a
49	chr22:31494860-31494910	MCF-7	breast:	n/a
50	chr22:31494860-31494910	Caco-2	colon:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31486882..31489559-chr22:31493871..31495711,2	MCF-7	breast:
2	chr22:31478816..31484481-chr22:31493390..31497944,7	MCF-7	breast:
3	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
4	chr22:31493063..31495766-chr22:31501583..31503535,2	MCF-7	breast:
5	chr22:31494012..31497911-chr22:31499689..31503512,5	K562	blood:

No data

Variant related genes	Relation type
SMTN	TF binding region
SMTN	CpG island
ENSG00000198832	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1004243	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089487	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11089488	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11089489	0.83[AFR][1000 genomes]
rs11703403	0.88[AFR][1000 genomes]
rs11703478	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11705137	0.85[AFR][1000 genomes]
rs12167220	0.85[AFR][1000 genomes]
rs12330010	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13053329	0.85[AFR][1000 genomes]
rs13054770	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1807739	0.85[AFR][1000 genomes]
rs35657209	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs35685997	0.85[AMR][1000 genomes]
rs4820934	0.80[AMR][1000 genomes]
rs4820939	0.81[AFR][1000 genomes]
rs4820940	0.85[AFR][1000 genomes]
rs4820941	0.85[AFR][1000 genomes]
rs7284108	0.81[AMR][1000 genomes]
rs737930	0.81[AMR][1000 genomes]
rs8135353	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9621173	0.81[AMR][1000 genomes]
rs9621184	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9621185	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9621187	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621188	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31482000-31496200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
2	chr22:31482000-31497400	Strong transcription	Aorta	Aorta
3	chr22:31482000-31497800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:31482000-31497800	Weak transcription	Hela-S3	cervix
5	chr22:31482000-31500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:31482000-31501000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr22:31482000-31501200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr22:31482200-31498800	Strong transcription	Fetal Lung	lung
9	chr22:31482400-31497800	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr22:31482800-31497800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:31482800-31497800	Strong transcription	Osteobl	bone
12	chr22:31483000-31498600	Strong transcription	Thymus	Thymus
13	chr22:31483200-31497800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:31483200-31497800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:31483200-31500600	Strong transcription	HUVEC	blood vessel
16	chr22:31483200-31502000	Strong transcription	NHEK	skin
17	chr22:31483600-31497400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr22:31483600-31497800	Strong transcription	HMEC	breast
19	chr22:31483800-31497400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:31483800-31499600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:31484000-31498600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:31484000-31502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:31484400-31499200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:31485200-31500800	Weak transcription	Fetal Thymus	thymus
25	chr22:31485200-31503000	Weak transcription	Fetal Kidney	kidney
26	chr22:31485400-31498000	Strong transcription	Adipose Nuclei	Adipose
27	chr22:31485400-31500000	Strong transcription	Pancreas	Pancrea
28	chr22:31485800-31502800	Weak transcription	GM12878-XiMat	blood
29	chr22:31486800-31498600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr22:31487400-31497800	Strong transcription	NH-A	brain
31	chr22:31488400-31500400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:31488800-31495000	Strong transcription	Placenta	Placenta
33	chr22:31489000-31500000	Weak transcription	Primary T cells from cord blood	blood
34	chr22:31489200-31498200	Weak transcription	A549	lung
35	chr22:31489200-31501400	Strong transcription	Gastric	stomach
36	chr22:31489600-31501600	Weak transcription	Brain Angular Gyrus	brain
37	chr22:31490200-31497200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr22:31490400-31495800	Genic enhancers	Right Ventricle	heart
39	chr22:31490400-31496400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr22:31490400-31498400	Weak transcription	Right Atrium	heart
41	chr22:31490600-31495800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
42	chr22:31490600-31496000	Genic enhancers	Fetal Muscle Leg	muscle
43	chr22:31490800-31495200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr22:31490800-31495200	Genic enhancers	Left Ventricle	heart
45	chr22:31490800-31500200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:31490800-31502000	Weak transcription	Brain Substantia Nigra	brain
47	chr22:31491000-31496400	Strong transcription	Dnd41	blood
48	chr22:31491000-31500600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
49	chr22:31491400-31502000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
50	chr22:31491800-31498400	Strong transcription	Lung	lung

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