Variant report

Variant	rs17228581
Chromosome Location	chr7:100491047-100491048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100491027-100491077	SKMC	muscle:	n/a
2	chr7:100491027-100491077	HCT-116	colon:	n/a
3	chr7:100491027-100491077	GM12892	blood:	n/a
4	chr7:100491027-100491077	NHBE	bronchial:	n/a
5	chr7:100491027-100491077	MCF10A-Er-Src	breast:	n/a
6	chr7:100491027-100491077	H1-hESC	embryonic stem cell:	embryo
7	chr7:100491027-100491077	ECC-1	luminal epithelium:	n/a
8	chr7:100491027-100491077	SK-N-MC	brain:	n/a
9	chr7:100491027-100491077	ProgFib	skin:	n/a
10	chr7:100491027-100491077	LNCaP	prostate:	n/a
11	chr7:100491027-100491077	HRCEpiC	kidney:	n/a
12	chr7:100491027-100491077	Jurkat	blood:	n/a
13	chr7:100491027-100491077	CMK	blood:	n/a
14	chr7:100491027-100491077	NB4	blood:	n/a
15	chr7:100491027-100491077	GM06990	blood:	n/a
16	chr7:100491027-100491077	A549	lung:	n/a
17	chr7:100491027-100491077	NT2-D1	testis:	n/a
18	chr7:100491027-100491077	AoSMC	blood vessel:	n/a
19	chr7:100491027-100491077	AG09319	gingival:	n/a
20	chr7:100491027-100491077	T-47D	breast:	n/a
21	chr7:100491027-100491077	HCPEpiC	choroid plexus:	n/a
22	chr7:100491027-100491077	NH-A	brain:	n/a
23	chr7:100491027-100491077	AG04450	lung:	fetal
24	chr7:100491027-100491077	HepG2	liver:	n/a
25	chr7:100491027-100491077	AG10803	skin:	n/a
26	chr7:100491027-100491077	AG09309	skin:	n/a
27	chr7:100491027-100491077	Hepatocyte	liver:	n/a
28	chr7:100491027-100491077	PrEC	prostate:	n/a
29	chr7:100491027-100491077	HRE	kidney:	n/a
30	chr7:100491027-100491077	AG04449	skin:	fetal
31	chr7:100491027-100491077	ovcar-3	ovarian:	n/a
32	chr7:100491027-100491077	U87	brain:	n/a
33	chr7:100491027-100491077	BJ	skin:	n/a
34	chr7:100491027-100491077	K562	blood:	n/a
35	chr7:100491027-100491077	HCM	heart:	n/a
36	chr7:100491027-100491077	IMR90	lung:	fetal
37	chr7:100491027-100491077	GM12891	blood:	n/a
38	chr7:100491027-100491077	RPTEC	kidney:	n/a
39	chr7:100491027-100491077	HPAEpiC	pulmonary alveolar:	n/a
40	chr7:100491027-100491077	GM12878	blood:	n/a
41	chr7:100491027-100491077	HNPCEpiC	eye:	n/a
42	chr7:100491027-100491077	HUVEC	blood vessel:	n/a
43	chr7:100491027-100491077	PFSK-1	brain:	n/a
44	chr7:100491027-100491077	HEK293	kidney:	embryo
45	chr7:100491027-100491077	GM19239	blood:	n/a
46	chr7:100491027-100491077	Caco-2	colon:	n/a
47	chr7:100491027-100491077	SAEC	small airway:	n/a
48	chr7:100491027-100491077	PANC-1	pancreas:	n/a
49	chr7:100491027-100491077	HL-60	blood:	n/a
50	chr7:100491027-100491077	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100490569..100492448-chr7:100550621..100553306,2	MCF-7	breast:

No data

Variant related genes	Relation type
UFSP1	CpG island
ENSG00000169894	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11973842	1.00[EUR][1000 genomes]
rs11974682	1.00[EUR][1000 genomes]
rs11981707	0.82[AFR][1000 genomes]
rs11983638	1.00[EUR][1000 genomes]
rs17228609	1.00[EUR][1000 genomes]
rs17234989	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17881553	1.00[EUR][1000 genomes]
rs17885823	1.00[EUR][1000 genomes]
rs35246066	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
10	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
13	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
14	nsv888802	chr7:100484917-100495530	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv607968	chr7:100486035-100492896	Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	39 gene(s)	inside rSNPs	diseases
16	nsv888803	chr7:100486656-100497131	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	nsv888804	chr7:100486754-100494202	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	nsv888805	chr7:100486754-100498057	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
19	nsv482110	chr7:100487616-100493541	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
20	nsv888806	chr7:100488407-100495530	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
21	nsv888807	chr7:100490077-100498057	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv888808	chr7:100490981-100498057	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100488200-100492600	Weak transcription	Liver	Liver
2	chr7:100488600-100492200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:100488800-100491800	Weak transcription	HSMM	muscle
4	chr7:100488800-100492000	Weak transcription	Gastric	stomach
5	chr7:100488800-100492000	Weak transcription	HSMMtube	muscle
6	chr7:100488800-100492200	Enhancers	Psoas Muscle	Psoas
7	chr7:100488800-100492400	Weak transcription	Lung	lung
8	chr7:100488800-100492400	Weak transcription	Right Atrium	heart
9	chr7:100488800-100492600	Weak transcription	Aorta	Aorta
10	chr7:100488800-100492800	Weak transcription	Small Intestine	intestine
11	chr7:100489000-100491800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:100489000-100492000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:100489000-100492000	Weak transcription	Right Ventricle	heart
14	chr7:100489000-100492400	Weak transcription	Left Ventricle	heart
15	chr7:100489000-100492400	Weak transcription	Pancreas	Pancrea
16	chr7:100489000-100492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:100489000-100492600	Weak transcription	Ovary	ovary
18	chr7:100489200-100491200	Genic enhancers	Fetal Muscle Leg	muscle
19	chr7:100489200-100491600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:100489200-100491800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:100489200-100492000	Weak transcription	Placenta	Placenta
22	chr7:100489200-100492000	Weak transcription	GM12878-XiMat	blood
23	chr7:100489200-100492200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:100489200-100492200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:100489200-100492400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:100489200-100492800	Weak transcription	Brain Substantia Nigra	brain
27	chr7:100489400-100491400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:100489400-100491400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:100489400-100491800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:100489400-100491800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:100489400-100492000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:100489400-100492000	Weak transcription	A549	lung
33	chr7:100489400-100492000	Weak transcription	Hela-S3	cervix
34	chr7:100489600-100491400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:100489600-100491400	Strong transcription	Fetal Intestine Small	intestine
36	chr7:100489600-100491800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:100489600-100491800	Weak transcription	Fetal Lung	lung
38	chr7:100489600-100492000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:100489800-100491600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:100489800-100491800	Weak transcription	Esophagus	oesophagus
41	chr7:100489800-100491800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr7:100490000-100491200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:100490000-100491800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:100490000-100492000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:100490000-100492400	Weak transcription	NH-A	brain
46	chr7:100490200-100491200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:100490200-100491400	Weak transcription	K562	blood
48	chr7:100490200-100491600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
49	chr7:100490400-100491600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
50	chr7:100490800-100491400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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