Variant report

Variant	rs3808053
Chromosome Location	chr7:127717435-127717436
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127717075-127717470	Hela-S3	cervix:	n/a	n/a
2	NFIC	chr7:127716875-127717481	ECC-1	luminal epithelium:	n/a	chr7:127717215-127717231
3	MXI1	chr7:127716540-127718068	SK-N-SH	brain:	n/a	chr7:127717687-127717696
4	POLR2A	chr7:127717272-127717872	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:127709491..127711547-chr7:127715918..127717770,2	K562	blood:
2	chr7:127710185..127711804-chr7:127715532..127717815,2	MCF-7	breast:
3	chr7:127707718..127710991-chr7:127715839..127718158,3	K562	blood:

Variant related genes	Relation type
MIR593	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10258271	0.82[EUR][1000 genomes]
rs17735366	0.83[EUR][1000 genomes]
rs57463770	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59096474	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60087663	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73238099	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238100	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239707	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73239713	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73239718	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73239720	0.82[EUR][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:121 , 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	chr7:127669600-127718200	Weak transcription	A549	lung
3	chr7:127681200-127718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:127692800-127724200	Weak transcription	Right Atrium	heart
5	chr7:127693200-127718400	Weak transcription	HMEC	breast
6	chr7:127695200-127718000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:127701600-127724600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:127702800-127727800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:127707800-127742200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:127709800-127718400	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:127709800-127724600	Weak transcription	NHDF-Ad	bronchial
12	chr7:127710400-127720200	Strong transcription	GM12878-XiMat	blood
13	chr7:127710600-127737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:127711400-127724000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:127711600-127727400	Strong transcription	HepG2	liver
16	chr7:127711600-127735600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:127711600-127736400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:127711800-127721800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:127711800-127737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:127712000-127728800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:127712200-127738200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:127713000-127718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:127713000-127718400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:127713000-127735000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:127713000-127737200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:127713200-127729600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:127713200-127736400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:127713400-127717800	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr7:127713400-127736400	Strong transcription	NHEK	skin
30	chr7:127713800-127719200	Strong transcription	Aorta	Aorta
31	chr7:127713800-127738800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:127714000-127722600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:127714200-127718400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:127714400-127719200	Strong transcription	NHLF	lung
35	chr7:127714400-127720200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:127714400-127721600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:127714400-127722200	Strong transcription	Placenta	Placenta
38	chr7:127714400-127722400	Strong transcription	Thymus	Thymus
39	chr7:127714400-127735000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr7:127714400-127738000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr7:127714600-127719000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:127714600-127719400	Strong transcription	Primary B cells from cord blood	blood
43	chr7:127714600-127722200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:127714800-127717800	Genic enhancers	Spleen	Spleen
45	chr7:127714800-127718400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:127714800-127719200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:127714800-127720400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:127714800-127734400	Strong transcription	Dnd41	blood
49	chr7:127715000-127717600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:127715000-127718000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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