Variant report

Variant	rs4656292
Chromosome Location	chr1:161194641-161194642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
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	POLR2A	chr1:161187261-161194848	HepG2	liver:	n/a	n/a
2	MYBL2	chr1:161192315-161194692	HepG2	liver:	n/a	n/a
3	TEAD4	chr1:161192958-161194688	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161194282..161198259-chr1:161282397..161284753,4	MCF-7	breast:
2	chr1:161194302..161197797-chr1:161367692..161371264,4	K562	blood:
3	chr1:161146486..161148163-chr1:161193790..161195628,2	K562	blood:
4	chr1:161194292..161205045-chr1:161279588..161288493,17	K562	blood:
5	chr1:161194199..161195786-chr1:161275942..161278564,3	K562	blood:
6	chr1:161192625..161198260-chr1:161274899..161278564,8	K562	blood:
7	chr1:161170229..161173658-chr1:161194306..161198397,5	MCF-7	breast:
8	chr1:161194451..161198420-chr1:161282525..161287303,8	K562	blood:
9	chr1:161192147..161195116-chr1:161197570..161199818,2	MCF-7	breast:
10	chr1:161133737..161136347-chr1:161193972..161196200,2	K562	blood:

No data

Variant related genes	Relation type
TOMM40L	TF binding region
MIR5187	TF binding region
APOA2	TF binding region
ENSG00000206921	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000158887	Chromatin interaction
ENSG00000158850	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000158882	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4073054	0.88[EUR][1000 genomes]
rs5082	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161184400-161195000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:161184400-161195000	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:161184400-161195000	Weak transcription	NHEK	skin
4	chr1:161184600-161195000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:161184600-161195000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:161184600-161195000	Weak transcription	Brain Substantia Nigra	brain
7	chr1:161184600-161195800	Weak transcription	Aorta	Aorta
8	chr1:161184600-161195800	Weak transcription	Esophagus	oesophagus
9	chr1:161185000-161194800	Weak transcription	Dnd41	blood
10	chr1:161185000-161195000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:161185200-161195000	Weak transcription	A549	lung
12	chr1:161185200-161195200	Weak transcription	Thymus	Thymus
13	chr1:161185400-161195200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:161185400-161195200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:161185400-161195200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:161185600-161195000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:161185600-161195200	Weak transcription	HMEC	breast
18	chr1:161185800-161195000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:161185800-161195800	Enhancers	Fetal Intestine Large	intestine
20	chr1:161186000-161195200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:161186800-161194800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:161186800-161195000	Weak transcription	Brain Angular Gyrus	brain
23	chr1:161187000-161195000	Weak transcription	Fetal Lung	lung
24	chr1:161187400-161195800	Weak transcription	Lung	lung
25	chr1:161187600-161195200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:161187800-161195000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:161187800-161195000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:161187800-161195000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:161188200-161195000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:161188200-161195000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:161188400-161195000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:161188400-161195000	Weak transcription	Adipose Nuclei	Adipose
33	chr1:161188600-161195000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:161189000-161195200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:161189600-161195000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:161189800-161195000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:161190000-161195000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:161190000-161195000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:161190000-161195000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:161190000-161195200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:161190200-161194800	Weak transcription	Primary T cells from cord blood	blood
42	chr1:161190200-161195000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:161190200-161195000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:161190800-161195000	Weak transcription	Spleen	Spleen
45	chr1:161191000-161195200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:161192000-161194800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:161192000-161195800	Enhancers	Fetal Intestine Small	intestine
48	chr1:161192200-161195000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:161192200-161195000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:161192400-161195000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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