Variant report

Variant	rs35584770
Chromosome Location	chr7:127726550-127726551
allele	C/T
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	chr7:127723452-127728216	K562	blood:	n/a	n/a
2	POLR2A	chr7:127726307-127727041	K562	blood:	n/a	n/a
3	POLR2A	chr7:127723677-127727203	K562	blood:	n/a	n/a
4	EP300	chr7:127723636-127726980	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr7:127725972-127727224	K562	blood:	n/a	n/a
6	POLR2A	chr7:127726451-127726777	K562	blood:	n/a	n/a
7	POLR2A	chr7:127726359-127726939	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:127726537-127726615	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35343897..35345985-chr7:127725161..127726681,2	MCF-7	breast:
2	chr7:127724628..127729204-chr7:127729479..127734634,5	MCF-7	breast:

Variant related genes	Relation type
SND1	TF binding region
ENSG00000197157	Chromatin interaction
ENSG00000198604	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12706824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13223326	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13232846	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13238717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13240628	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17733783	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34209480	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34393727	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35013916	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35081291	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35602492	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35990797	0.82[AMR][1000 genomes]
rs3757762	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3779525	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3808062	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62481453	0.80[EUR][1000 genomes]
rs62483978	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6948752	0.88[AMR][1000 genomes];0.83[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:124 , 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	chr7:127702800-127727800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:127707800-127742200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:127710600-127737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:127711600-127727400	Strong transcription	HepG2	liver
6	chr7:127711600-127735600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr7:127711600-127736400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:127711800-127737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:127712000-127728800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:127712200-127738200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:127713000-127735000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:127713000-127737200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:127713200-127729600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:127713200-127736400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:127713400-127736400	Strong transcription	NHEK	skin
16	chr7:127713800-127738800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:127714400-127735000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr7:127714400-127738000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr7:127714800-127734400	Strong transcription	Dnd41	blood
20	chr7:127715800-127738400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:127717000-127729000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:127717000-127738000	Weak transcription	Fetal Kidney	kidney
23	chr7:127717200-127734000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:127717200-127736600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:127717200-127738600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:127717600-127729600	Strong transcription	Lung	lung
27	chr7:127717600-127736600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:127717600-127738800	Strong transcription	Liver	Liver
29	chr7:127717800-127728800	Strong transcription	Fetal Intestine Large	intestine
30	chr7:127717800-127736600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:127718000-127728200	Strong transcription	Adipose Nuclei	Adipose
32	chr7:127718200-127728000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:127718200-127736400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr7:127718200-127736400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr7:127718400-127732800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:127718400-127736600	Strong transcription	Gastric	stomach
37	chr7:127718600-127727800	Weak transcription	Brain Germinal Matrix	brain
38	chr7:127719200-127736400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr7:127720000-127736000	Weak transcription	Psoas Muscle	Psoas
40	chr7:127720400-127733200	Strong transcription	Primary B cells from cord blood	blood
41	chr7:127720600-127738200	Strong transcription	GM12878-XiMat	blood
42	chr7:127721200-127733000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr7:127721200-127735800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:127721400-127733800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:127721400-127733800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:127721400-127734800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:127721400-127735000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:127721800-127726600	Genic enhancers	Fetal Stomach	stomach
49	chr7:127722400-127738400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:127722600-127729600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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