Variant report

Variant	rs7048212
Chromosome Location	chr9:14992314-14992315
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	ATF1	chr9:14992118-14992479	K562	blood:	n/a	n/a
2	IRF1	chr9:14991634-14993552	K562	blood:	n/a	chr9:14993194-14993208 chr9:14993205-14993219 chr9:14992210-14992231
3	MXI1	chr9:14991869-14994541	SK-N-SH	brain:	n/a	n/a
4	RFX5	chr9:14991332-14994287	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr9:14992024-14992932	SK-N-SH	brain:	n/a	n/a
6	TBL1XR1	chr9:14992170-14992363	K562	blood:	n/a	n/a
7	POLR2A	chr9:14992199-14993642	K562	blood:	n/a	n/a
8	RFX5	chr9:14992154-14992339	K562	blood:	n/a	n/a
9	IRF1	chr9:14991870-14993516	K562	blood:	n/a	chr9:14993194-14993208 chr9:14993205-14993219 chr9:14992210-14992231
10	POLR2A	chr9:14992129-14994373	SK-N-MC	brain:	n/a	n/a
11	IRF1	chr9:14992046-14992411	K562	blood:	n/a	chr9:14992210-14992231
12	JUND	chr9:14992214-14992376	K562	blood:	n/a	n/a
13	POLR2A	chr9:14992157-14992786	SK-N-MC	brain:	n/a	n/a
14	CEBPB	chr9:14992111-14992396	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000215237	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10115192	1.00[EUR][1000 genomes]
rs10115344	1.00[EUR][1000 genomes]
rs10122371	0.92[EUR][1000 genomes]
rs10961818	0.92[EUR][1000 genomes]
rs12001792	1.00[EUR][1000 genomes]
rs12338689	1.00[EUR][1000 genomes]
rs12339145	0.92[EUR][1000 genomes]
rs12339856	1.00[EUR][1000 genomes]
rs12350915	0.92[EUR][1000 genomes]
rs12353198	0.92[EUR][1000 genomes]
rs13440301	0.92[EUR][1000 genomes]
rs28534798	1.00[EUR][1000 genomes]
rs28536549	0.92[EUR][1000 genomes]
rs6474877	1.00[EUR][1000 genomes]
rs7023025	1.00[EUR][1000 genomes]
rs7023503	1.00[EUR][1000 genomes]
rs7031667	0.92[EUR][1000 genomes]
rs7031880	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7044317	1.00[EUR][1000 genomes]
rs73642492	1.00[EUR][1000 genomes]
rs7851480	0.92[EUR][1000 genomes]
rs7851938	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7860043	1.00[EUR][1000 genomes]
rs7870793	0.94[AFR][1000 genomes]
rs9696246	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv613647	chr9:14852141-15016475	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv892620	chr9:14922877-15086021	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv892621	chr9:14928013-15043692	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2761503	chr9:14960217-15049343	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv892622	chr9:14960217-15055607	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14981000-14992400	Weak transcription	Fetal Heart	heart
2	chr9:14982200-14992600	Weak transcription	Fetal Lung	lung
3	chr9:14987200-14992400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr9:14990000-14992800	Weak transcription	NH-A	brain
5	chr9:14991400-14992400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:14991400-14992800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr9:14991600-14992400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr9:14991600-14992600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:14991600-14993800	Active TSS	K562	blood
10	chr9:14991600-14994400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:14991800-14992400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:14991800-14994400	Active TSS	NHDF-Ad	bronchial
13	chr9:14992000-14992400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:14992000-14992400	Active TSS	Primary T cells fromperipheralblood	blood
15	chr9:14992000-14992400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr9:14992000-14992400	Active TSS	Fetal Muscle Leg	muscle
17	chr9:14992000-14992400	Active TSS	Dnd41	blood
18	chr9:14992000-14992600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:14992000-14992800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr9:14992000-14993000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:14992000-14994000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:14992000-14994200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr9:14992000-14994200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr9:14992000-14994400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr9:14992200-14992400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr9:14992200-14992400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr9:14992200-14992400	Enhancers	Thymus	Thymus
28	chr9:14992200-14992600	Active TSS	Colon Smooth Muscle	Colon
29	chr9:14992200-14992600	Active TSS	Hela-S3	cervix
30	chr9:14992200-14992800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:14992200-14992800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr9:14992200-14992800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr9:14992200-14993000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr9:14992200-14993000	Enhancers	Fetal Thymus	thymus
35	chr9:14992200-14993200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr9:14992200-14993200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr9:14992200-14993200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr9:14992200-14993400	Active TSS	Placenta	Placenta
39	chr9:14992200-14993600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr9:14992200-14994000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr9:14992200-14994000	Active TSS	Aorta	Aorta
42	chr9:14992200-14994000	Active TSS	Right Atrium	heart
43	chr9:14992200-14994400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr9:14992200-14994800	Active TSS	Psoas Muscle	Psoas
45	chr9:14992200-14995000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links