Variant report

Variant	rs9812738
Chromosome Location	chr3:159929106-159929107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr3:159928582-159929109	K562	blood:	n/a	n/a
2	RAD21	chr3:159928677-159929172	A549	lung:	n/a	n/a
3	TEAD4	chr3:159928680-159929117	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOXA2	chr3:159928734-159929131	A549	lung:	n/a	n/a
5	RAD21	chr3:159928683-159929151	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr3:159928880-159929170	HFF-Myc	foreskin:	n/a	n/a
7	CTCF	chr3:159928840-159929110	WI-38	lung:	n/a	n/a
8	CREB1	chr3:159928625-159929114	GM12878	blood:	n/a	n/a
9	MYC	chr3:159928675-159929190	K562	blood:	n/a	n/a
10	TEAD4	chr3:159928599-159929120	HCT-116	colon:	n/a	n/a
11	TEAD4	chr3:159928743-159929109	ECC-1	luminal epithelium:	n/a	n/a
12	RAD21	chr3:159928743-159929131	HepG2	liver:	n/a	n/a
13	ATF2	chr3:159928664-159929138	GM12878	blood:	n/a	n/a
14	CTCF	chr3:159929020-159929170	AG04449	skin:	n/a	n/a
15	CEBPB	chr3:159928618-159929269	HCT-116	colon:	n/a	n/a
16	CTCF	chr3:159929000-159929150	NHEK	skin:	n/a	n/a
17	ATF3	chr3:159928556-159929155	HCT-116	colon:	n/a	n/a
18	RAD21	chr3:159928704-159929205	A549	lung:	n/a	n/a
19	JUND	chr3:159928470-159929205	K562	blood:	n/a	n/a
20	ATF1	chr3:159928500-159929513	K562	blood:	n/a	n/a
21	ATF3	chr3:159928535-159929117	K562	blood:	n/a	n/a
22	CTCF	chr3:159928732-159929171	MCF-7	breast:	n/a	n/a
23	SMC3	chr3:159928762-159929116	GM12878	blood:	n/a	n/a
24	CTCF	chr3:159929080-159929230	NB4	blood:	n/a	n/a
25	JUND	chr3:159928480-159929137	SK-N-SH	brain:	n/a	n/a
26	FOXA1	chr3:159928767-159929147	HepG2	liver:	n/a	n/a
27	RAD21	chr3:159928612-159929202	HCT-116	colon:	n/a	n/a
28	ZNF384	chr3:159928723-159929190	K562	blood:	n/a	n/a
29	CTCF	chr3:159928960-159929110	HAc	cerebellar:	n/a	n/a
30	JUND	chr3:159928388-159929165	HCT-116	colon:	n/a	n/a
31	ATF2	chr3:159928590-159929126	H1-hESC	embryonic stem cell:	n/a	n/a
32	FOSL1	chr3:159928439-159929167	HCT-116	colon:	n/a	n/a
33	FOXA1	chr3:159928752-159929172	HepG2	liver:	n/a	n/a
34	CEBPB	chr3:159928580-159929174	HCT-116	colon:	n/a	n/a
35	FOXA1	chr3:159928769-159929146	HepG2	liver:	n/a	n/a
36	TEAD4	chr3:159928752-159929136	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF3	chr3:159928530-159929164	HCT-116	colon:	n/a	n/a
38	JUN	chr3:159927974-159929488	K562	blood:	n/a	chr3:159928874-159928887 chr3:159928890-159928903
39	RAD21	chr3:159928684-159929147	ECC-1	luminal epithelium:	n/a	n/a
40	KAP1	chr3:159928658-159929168	HEK293	kidney:	n/a	n/a
41	CTCF	chr3:159928656-159929178	HCT-116	colon:	n/a	n/a
42	CEBPB	chr3:159928723-159929256	A549	lung:	n/a	n/a
43	CTCF	chr3:159928555-159929832	A549	lung:	n/a	n/a
44	FOSL1	chr3:159928370-159929202	HCT-116	colon:	n/a	n/a
45	CTCF	chr3:159928860-159929150	SAEC	small airway:	n/a	n/a
46	CTCF	chr3:159929100-159929250	HMEC	breast:	n/a	n/a
47	RAD21	chr3:159928625-159929161	HCT-116	colon:	n/a	n/a
48	CTCF	chr3:159928960-159929110	SK-N-SH_RA	brain:	n/a	n/a
49	ATF2	chr3:159928619-159929141	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr3:159928724-159929176	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:159927676..159931542-chr3:159932108..159934409,3	K562	blood:
2	chr3:159928695..159929340-chr3:159943042..159943558,2	MCF-7	breast:
3	chr3:159927085..159929694-chr3:159937595..159939514,2	K562	blood:
4	chr3:159927992..159930474-chr3:159934631..159936749,2	K562	blood:
5	chr3:159927004..159929808-chr3:159930345..159933064,3	K562	blood:
6	chr3:159881139..159881728-chr3:159928756..159929410,2	MCF-7	breast:

No data

Variant related genes	Relation type
IL12A-AS1	TF binding region
ENSG00000180044	Chromatin interaction
ENSG00000244040	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs28599984	1.00[CHD][hapmap]
rs2886772	1.00[CHD][hapmap]
rs6764829	1.00[CHD][hapmap]
rs9843737	1.00[CHD][hapmap]
rs9845395	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv877699	chr3:159820488-159976271	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9812738	PPM1L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159928000-159929600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:159928600-159929200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:159928600-159929200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:159928600-159929200	Enhancers	Colon Smooth Muscle	Colon
5	chr3:159929000-159929200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:159929000-159929600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr3:159929000-159929600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:159929000-159930000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:159929000-159930200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:159929000-159933600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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