Variant report

Variant	rs28735155
Chromosome Location	chr7:21986428-21986429
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	SMC3	chr7:21984241-21986496	Hela-S3	cervix:	n/a	chr7:21985675-21985685
2	SREBP1	chr7:21983966-21986748	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CDCA7L	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10085817	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10232849	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10257795	1.00[AMR][1000 genomes]
rs10264970	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10279289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28758852	0.83[AFR][1000 genomes]
rs28858787	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv870325	chr7:21979039-22120493	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21984000-21986800	Active TSS	Rectal Smooth Muscle	rectum
2	chr7:21985800-21986800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:21985800-21986800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:21985800-21989200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:21986000-21986600	Enhancers	Duodenum Mucosa	Duodenum
6	chr7:21986000-21986800	Bivalent Enhancer	Fetal Intestine Large	intestine
7	chr7:21986000-21986800	Enhancers	Fetal Lung	lung
8	chr7:21986000-21986800	Enhancers	Gastric	stomach
9	chr7:21986000-21987000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:21986000-21987000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr7:21986000-21987200	Enhancers	Fetal Thymus	thymus
12	chr7:21986000-21987800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:21986000-21988400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:21986000-21988600	Enhancers	Primary T cells from cord blood	blood
15	chr7:21986000-21988600	Enhancers	HUVEC	blood vessel
16	chr7:21986000-21989600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:21986000-21993200	Weak transcription	Ovary	ovary
18	chr7:21986200-21986600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:21986200-21986600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:21986200-21986600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr7:21986200-21986800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:21986200-21986800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:21986200-21986800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:21986200-21986800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:21986200-21986800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:21986200-21986800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:21986200-21986800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr7:21986200-21987000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:21986200-21987000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:21986200-21987000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:21986200-21987000	Enhancers	Fetal Kidney	kidney
32	chr7:21986200-21987400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:21986200-21987400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:21986200-21987600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:21986200-21988000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:21986200-21988200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr7:21986200-21988400	Enhancers	Primary B cells from peripheral blood	blood
38	chr7:21986200-21988600	Enhancers	Primary B cells from cord blood	blood
39	chr7:21986200-21988600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr7:21986200-21989000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr7:21986200-21992800	Weak transcription	Fetal Heart	heart
42	chr7:21986400-21986600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr7:21986400-21986600	Active TSS	A549	lung
44	chr7:21986400-21986800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:21986400-21987000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:21986400-21987000	Enhancers	Hela-S3	cervix
47	chr7:21986400-21988600	Weak transcription	Placenta	Placenta
48	chr7:21986400-21989200	Enhancers	GM12878-XiMat	blood

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