Variant report

Variant	rs73012147
Chromosome Location	chr3:156872235-156872236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:156868992-156873002	GM12891	blood:	n/a	n/a
2	POLR2A	chr3:156862893-156872946	A549	lung:	n/a	n/a
3	POLR2A	chr3:156871943-156873244	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:156872125-156872609	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr3:156872234-156872987	HepG2	liver:	n/a	n/a
6	POLR2A	chr3:156872184-156873097	GM12878	blood:	n/a	n/a
7	POLR2A	chr3:156861007-156879269	K562	blood:	n/a	n/a
8	POLR2A	chr3:156863231-156878853	HepG2	liver:	n/a	n/a
9	POLR2A	chr3:156868856-156872754	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:156868728-156873222	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:156871948-156872341	Hela-S3	cervix:	n/a	n/a
12	CHD1	chr3:156868741-156879284	IMR90	lung:	n/a	n/a
13	POLR2A	chr3:156863168-156879174	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr3:156867869-156872315	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr3:156872082-156872657	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:156543622..156545874-chr3:156870977..156873628,2	MCF-7	breast:
2	chr3:156267016..156271448-chr3:156870182..156873447,4	K562	blood:
3	chr17:80415972..80416686-chr3:156871707..156872388,2	Hela-S3	cervix:
4	chr3:156267109..156271448-chr3:156870440..156873447,4	K562	blood:

No data

Variant related genes	Relation type
CCNL1	TF binding region
ENSG00000114850	Chromatin interaction
ENSG00000265458	Chromatin interaction
ENSG00000141562	Chromatin interaction
ENSG00000197980	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58032323	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73012142	1.00[AMR][1000 genomes]
rs73012145	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73012149	1.00[AMR][1000 genomes]
rs73012153	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349885	chr3:156685409-156878910	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv520331	chr3:156858300-156915650	Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156848600-156876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:156852600-156873400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr3:156855400-156877000	Weak transcription	Gastric	stomach
4	chr3:156856000-156874600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:156858400-156876400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr3:156858600-156872400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:156859400-156872400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr3:156859400-156876200	Strong transcription	Placenta	Placenta
9	chr3:156860000-156872400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:156860000-156872400	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr3:156860000-156872800	Strong transcription	HSMM	muscle
12	chr3:156860000-156874000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:156860200-156872400	Strong transcription	Fetal Brain Female	brain
14	chr3:156860800-156872400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:156860800-156872400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:156860800-156872600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:156861200-156873000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:156861600-156872400	Strong transcription	Fetal Kidney	kidney
19	chr3:156861600-156872400	Strong transcription	Hela-S3	cervix
20	chr3:156861600-156872600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:156861600-156873800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:156861800-156872400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:156861800-156875600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr3:156862200-156872400	Strong transcription	K562	blood
25	chr3:156863200-156872400	Strong transcription	NH-A	brain
26	chr3:156863200-156876800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:156864000-156875600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:156864200-156872800	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr3:156864400-156872400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:156864800-156874600	Strong transcription	Fetal Thymus	thymus
31	chr3:156865400-156873600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:156865800-156874200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:156866000-156872400	Strong transcription	NHEK	skin
34	chr3:156866200-156877000	Weak transcription	Esophagus	oesophagus
35	chr3:156866400-156874600	Weak transcription	Pancreas	Pancrea
36	chr3:156866400-156877000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:156867200-156875600	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr3:156867600-156872400	Weak transcription	Fetal Brain Male	brain
39	chr3:156867800-156874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:156868000-156872400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:156869000-156874400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:156869000-156874600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:156869200-156872600	Strong transcription	Brain Germinal Matrix	brain
44	chr3:156869800-156872400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:156869800-156874600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:156869800-156874600	Weak transcription	Spleen	Spleen
47	chr3:156869800-156876600	Weak transcription	Lung	lung
48	chr3:156870000-156874600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr3:156870400-156874600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr3:156870800-156872400	Genic enhancers	Primary T cells from cord blood	blood

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