Variant report

Variant	rs12721035
Chromosome Location	chr1:161191339-161191340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161187638-161194598	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:161191111-161191402	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:161186483-161191435	HepG2	liver:	n/a	n/a
4	NFIC	chr1:161190953-161191429	HepG2	liver:	n/a	n/a
5	HEY1	chr1:161191075-161191388	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:161187501-161194535	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:161191108-161191435	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:161187261-161194848	HepG2	liver:	n/a	n/a
9	HEY1	chr1:161187602-161194631	HepG2	liver:	n/a	n/a
10	MYBL2	chr1:161187930-161191444	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161191256..161193783-chr1:161281655..161284632,2	K562	blood:
2	chr1:161187330..161192033-chr1:161197583..161201870,4	K562	blood:
3	chr1:161179772..161182627-chr1:161189790..161192489,3	MCF-7	breast:
4	chr1:161173950..161176366-chr1:161191214..161193773,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APOA2-2	chr1:161191135-161191417	NONHSAT007140

No data

Variant related genes	Relation type
TOMM40L	TF binding region
ENSG00000158882	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000143257	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11584174	0.82[JPT][hapmap];0.90[MEX][hapmap]
rs12116949	1.00[LWK][hapmap]
rs12721036	1.00[ASN][1000 genomes]
rs16832733	1.00[LWK][hapmap];1.00[MEX][hapmap]
rs4656998	0.82[JPT][hapmap]
rs4656999	0.82[JPT][hapmap]
rs6413453	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[ASN][1000 genomes]
rs6686001	0.82[JPT][hapmap]

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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161172800-161193600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:161182400-161193800	Weak transcription	Small Intestine	intestine
3	chr1:161184400-161195000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:161184400-161195000	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:161184400-161195000	Weak transcription	NHEK	skin
6	chr1:161184600-161195000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:161184600-161195000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:161184600-161195000	Weak transcription	Brain Substantia Nigra	brain
9	chr1:161184600-161195800	Weak transcription	Aorta	Aorta
10	chr1:161184600-161195800	Weak transcription	Esophagus	oesophagus
11	chr1:161185000-161194800	Weak transcription	Dnd41	blood
12	chr1:161185000-161195000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:161185200-161195000	Weak transcription	A549	lung
14	chr1:161185200-161195200	Weak transcription	Thymus	Thymus
15	chr1:161185400-161195200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:161185400-161195200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:161185400-161195200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:161185600-161195000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:161185600-161195200	Weak transcription	HMEC	breast
20	chr1:161185800-161192400	Weak transcription	Fetal Stomach	stomach
21	chr1:161185800-161195000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:161185800-161195800	Enhancers	Fetal Intestine Large	intestine
23	chr1:161186000-161194000	Weak transcription	Gastric	stomach
24	chr1:161186000-161195200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:161186600-161194000	Weak transcription	Stomach Mucosa	stomach
26	chr1:161186800-161194800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:161186800-161195000	Weak transcription	Brain Angular Gyrus	brain
28	chr1:161187000-161191800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:161187000-161195000	Weak transcription	Fetal Lung	lung
30	chr1:161187400-161195800	Weak transcription	Lung	lung
31	chr1:161187600-161194200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:161187600-161195200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:161187800-161195000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:161187800-161195000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:161187800-161195000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:161188000-161191600	Weak transcription	Placenta	Placenta
37	chr1:161188000-161192000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:161188200-161195000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:161188200-161195000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:161188400-161191800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:161188400-161192800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr1:161188400-161195000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:161188400-161195000	Weak transcription	Adipose Nuclei	Adipose
44	chr1:161188600-161195000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:161188800-161191400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:161189000-161195200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr1:161189400-161193000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:161189600-161195000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:161189800-161195000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:161190000-161191400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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