Variant report

Variant	rs1108809
Chromosome Location	chr7:127720708-127720709
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:127720001-127721072	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:127720135-127720730	K562	blood:	n/a	n/a
3	POLR2A	chr7:127720009-127720813	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:127720696-127720746	U87	brain:	n/a
2	chr7:127720696-127720746	SAEC	small airway:	n/a
3	chr7:127720696-127720746	NHBE	bronchial:	n/a
4	chr7:127720696-127720746	AG09319	gingival:	n/a
5	chr7:127720696-127720746	MCF10A-Er-Src	breast:	n/a
6	chr7:127720696-127720746	NH-A	brain:	n/a
7	chr7:127720696-127720746	HRPEpiC	eye:	n/a
8	chr7:127720696-127720746	HCF	heart:	n/a
9	chr7:127720696-127720746	Hela-S3	cervix:	n/a
10	chr7:127720696-127720746	BJ	skin:	n/a
11	chr7:127720696-127720746	HMEC	breast:	n/a
12	chr7:127720696-127720746	GM06990	blood:	n/a
13	chr7:127720696-127720746	PrEC	prostate:	n/a
14	chr7:127720696-127720746	BE2_C	brain:	n/a
15	chr7:127720696-127720746	NHDF-neo	bronchial:	n/a
16	chr7:127720696-127720746	AG04449	skin:	fetal
17	chr7:127720696-127720746	CMK	blood:	n/a
18	chr7:127720696-127720746	LNCaP	prostate:	n/a
19	chr7:127720696-127720746	SK-N-MC	brain:	n/a
20	chr7:127720696-127720746	Caco-2	colon:	n/a
21	chr7:127720696-127720746	Hepatocyte	liver:	n/a
22	chr7:127720696-127720746	IMR90	lung:	fetal
23	chr7:127720696-127720746	RPTEC	kidney:	n/a
24	chr7:127720696-127720746	HRCEpiC	kidney:	n/a
25	chr7:127720696-127720746	T-47D	breast:	n/a
26	chr7:127720696-127720746	ProgFib	skin:	n/a
27	chr7:127720696-127720746	HCT-116	colon:	n/a
28	chr7:127720696-127720746	HCPEpiC	choroid plexus:	n/a
29	chr7:127720696-127720746	HepG2	liver:	n/a
30	chr7:127720696-127720746	PFSK-1	brain:	n/a
31	chr7:127720696-127720746	HRE	kidney:	n/a
32	chr7:127720696-127720746	HAEpiC	amniotic membrane:	n/a
33	chr7:127720696-127720746	HCM	heart:	n/a
34	chr7:127720696-127720746	HEK293	kidney:	embryo
35	chr7:127720696-127720746	HUVEC	blood vessel:	n/a
36	chr7:127720696-127720746	HIPEpiC	eye:	n/a
37	chr7:127720696-127720746	ovcar-3	ovarian:	n/a
38	chr7:127720696-127720746	ECC-1	luminal epithelium:	n/a
39	chr7:127720696-127720746	MCF-7	breast:	n/a
40	chr7:127720696-127720746	AG10803	skin:	n/a
41	chr7:127720696-127720746	GM19239	blood:	n/a
42	chr7:127720696-127720746	HEEpiC	esophagus:	n/a
43	chr7:127720696-127720746	SK-N-SH_RA	brain:	n/a
44	chr7:127720696-127720746	Jurkat	blood:	n/a
45	chr7:127720696-127720746	SK-N-SH	brain:	n/a
46	chr7:127720696-127720746	AoSMC	blood vessel:	n/a
47	chr7:127720696-127720746	K562	blood:	n/a
48	chr7:127720696-127720746	HNPCEpiC	eye:	n/a
49	chr7:127720696-127720746	PANC-1	pancreas:	n/a
50	chr7:127720696-127720746	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr7:127718952..127721279-chr7:127724518..127726533,2	K562	blood:
2	chr7:127718162..127720752-chr7:127729520..127731347,2	K562	blood:
3	chr7:127712887..127715958-chr7:127718524..127721736,3	K562	blood:

No data

Variant related genes	Relation type
MIR593	TF binding region
MIR593	CpG island
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4728082	0.80[AMR][1000 genomes]
rs4728084	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4728085	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4731390	0.80[AMR][1000 genomes]
rs4731392	0.94[ASN][1000 genomes]
rs4731397	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6949446	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6966724	0.97[ASN][1000 genomes]
rs7800110	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7810883	0.97[ASN][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
2	chr7:127692800-127724200	Weak transcription	Right Atrium	heart
3	chr7:127701600-127724600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:127702800-127727800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:127707800-127742200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:127709800-127724600	Weak transcription	NHDF-Ad	bronchial
7	chr7:127710600-127737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:127711400-127724000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:127711600-127727400	Strong transcription	HepG2	liver
10	chr7:127711600-127735600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr7:127711600-127736400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:127711800-127721800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:127711800-127737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:127712000-127728800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:127712200-127738200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr7:127713000-127735000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:127713000-127737200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:127713200-127729600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:127713200-127736400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:127713400-127736400	Strong transcription	NHEK	skin
21	chr7:127713800-127738800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:127714000-127722600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:127714400-127721600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:127714400-127722200	Strong transcription	Placenta	Placenta
25	chr7:127714400-127722400	Strong transcription	Thymus	Thymus
26	chr7:127714400-127735000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr7:127714400-127738000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr7:127714600-127722200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:127714800-127734400	Strong transcription	Dnd41	blood
30	chr7:127715200-127721600	Weak transcription	Left Ventricle	heart
31	chr7:127715800-127738400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:127716000-127721400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr7:127716000-127721400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:127716200-127720800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:127716200-127721400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:127716400-127722000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:127716400-127722400	Strong transcription	Osteobl	bone
38	chr7:127716600-127721800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:127716800-127724800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:127717000-127721400	Weak transcription	HUVEC	blood vessel
41	chr7:127717000-127722200	Strong transcription	Primary T cells from cord blood	blood
42	chr7:127717000-127729000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:127717000-127738000	Weak transcription	Fetal Kidney	kidney
44	chr7:127717200-127724000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:127717200-127725200	Weak transcription	Fetal Brain Female	brain
46	chr7:127717200-127734000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr7:127717200-127736600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:127717200-127738600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:127717400-127722600	Strong transcription	Esophagus	oesophagus
50	chr7:127717600-127721400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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