Variant report

Variant	rs34212386
Chromosome Location	chr1:161003873-161003874
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr1:161003447-161003989	HCT-116	colon:	n/a	n/a
2	JUND	chr1:161003500-161004017	HCT-116	colon:	n/a	n/a
3	FOS	chr1:161003573-161003938	MCF10A-Er-Src	breast:	n/a	n/a
4	TFAP2C	chr1:161003518-161003919	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr1:161003434-161003970	HCT-116	colon:	n/a	n/a
6	GATA3	chr1:161003607-161003991	MCF-7	breast:	n/a	n/a
7	TFAP2A	chr1:161003523-161003908	Hela-S3	cervix:	n/a	chr1:161003697-161003712
8	FOS	chr1:161003544-161003946	MCF10A-Er-Src	breast:	n/a	n/a
9	JUND	chr1:161003575-161003900	K562	blood:	n/a	n/a
10	ATF3	chr1:161003492-161003994	HCT-116	colon:	n/a	n/a
11	TAL1	chr1:161003653-161003900	K562	blood:	n/a	n/a
12	CEBPB	chr1:161003533-161003884	K562	blood:	n/a	n/a
13	CBX3	chr1:161003438-161004051	HCT-116	colon:	n/a	n/a
14	EP300	chr1:161003612-161003902	K562	blood:	n/a	n/a
15	CEBPB	chr1:161003433-161004073	HCT-116	colon:	n/a	n/a
16	JUN	chr1:161003446-161004042	K562	blood:	n/a	n/a
17	FOS	chr1:161003544-161003947	MCF10A-Er-Src	breast:	n/a	n/a
18	JUND	chr1:161003418-161004004	HCT-116	colon:	n/a	n/a
19	TEAD4	chr1:161003548-161004014	K562	blood:	n/a	n/a
20	POLR2A	chr1:161003565-161003952	HCT-116	colon:	n/a	n/a
21	FOSL1	chr1:161003571-161004030	HCT-116	colon:	n/a	n/a
22	JUND	chr1:161003545-161003920	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr1:161003550-161003892	K562	blood:	n/a	n/a
24	STAT5A	chr1:161003570-161003978	K562	blood:	n/a	n/a
25	GATA3	chr1:161003515-161003976	T-47D	breast:	n/a	n/a
26	FOS	chr1:161003575-161003907	MCF10A-Er-Src	breast:	n/a	n/a
27	CEBPB	chr1:161003526-161003901	Hela-S3	cervix:	n/a	n/a
28	ATF3	chr1:161003562-161003940	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:160991059..160993803-chr1:161000657..161003886,3	K562	blood:
2	chr1:160999454..161004323-chr1:161006023..161009248,5	MCF-7	breast:
3	chr1:160988930..160992089-chr1:161001381..161003949,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232879	TF binding region
ENSG00000158769	Chromatin interaction
ENSG00000270149	Chromatin interaction
ENSG00000215845	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12728349	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12748157	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2073657	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516837	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516839	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2774273	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3813609	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3813610	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3829791	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160991200-161007800	Weak transcription	HSMMtube	muscle
2	chr1:160991600-161007000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:160991800-161004600	Weak transcription	Primary B cells from cord blood	blood
4	chr1:160991800-161005200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:160991800-161007600	Weak transcription	Thymus	Thymus
6	chr1:160991800-161007800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:160992000-161004600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:160992000-161007000	Weak transcription	Fetal Intestine Small	intestine
9	chr1:160992200-161008000	Weak transcription	HUVEC	blood vessel
10	chr1:160997200-161008000	Weak transcription	A549	lung
11	chr1:160999600-161004400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:161001800-161004000	Enhancers	Hela-S3	cervix
13	chr1:161001800-161005800	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:161001800-161006800	Weak transcription	Lung	lung
15	chr1:161001800-161007800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:161002000-161004000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:161002000-161005000	Enhancers	K562	blood
18	chr1:161002000-161007600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:161002200-161004000	Enhancers	NHEK	skin
20	chr1:161002200-161007600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:161002400-161004000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:161002400-161004000	Enhancers	HMEC	breast
23	chr1:161002400-161004200	Enhancers	Placenta	Placenta
24	chr1:161002600-161007400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:161002800-161004800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:161002800-161007200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:161003000-161007000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:161003000-161007000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:161003000-161007200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:161003000-161007400	Weak transcription	GM12878-XiMat	blood
31	chr1:161003000-161008200	Weak transcription	Osteobl	bone
32	chr1:161003200-161006800	Weak transcription	HepG2	liver
33	chr1:161003200-161007000	Weak transcription	Liver	Liver
34	chr1:161003200-161007200	Weak transcription	Fetal Heart	heart
35	chr1:161003200-161007400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:161003200-161007600	Weak transcription	HSMM	muscle
37	chr1:161003200-161007800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:161003200-161008800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:161003400-161005000	Weak transcription	Ovary	ovary
40	chr1:161003800-161006800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:161003800-161007000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:161003800-161007000	Weak transcription	Adipose Nuclei	Adipose
43	chr1:161003800-161007400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:161003800-161007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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