Variant report

Variant	rs882856
Chromosome Location	chr11:120107411-120107412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:149)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:149 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr11:120107231-120107886	K562	blood:	n/a	n/a
2	POLR2A	chr11:120107146-120107982	K562	blood:	n/a	n/a
3	TAF7	chr11:120107209-120107856	K562	blood:	n/a	n/a
4	ZBTB33	chr11:120107281-120107809	K562	blood:	n/a	n/a
5	POLR2A	chr11:120107119-120108029	K562	blood:	n/a	n/a
6	CHD2	chr11:120107235-120107771	H1-hESC	embryonic stem cell:	n/a	n/a
7	CBX3	chr11:120107219-120107811	K562	blood:	n/a	n/a
8	POLR2A	chr11:120107045-120107983	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:120107209-120107906	H1-hESC	embryonic stem cell:	n/a	n/a
10	PML	chr11:120107227-120107762	MCF-7	breast:	n/a	n/a
11	POLR2A	chr11:120107308-120107805	Gliobla	brain:	n/a	n/a
12	JUND	chr11:120107141-120107829	T-47D	breast:	n/a	n/a
13	TBL1XR1	chr11:120107291-120107945	K562	blood:	n/a	n/a
14	POLR2A	chr11:120107202-120107567	SK-N-SH	brain:	n/a	n/a
15	SIN3AK20	chr11:120107225-120107680	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr11:120107188-120108148	GM12892	blood:	n/a	n/a
17	SIN3AK20	chr11:120107268-120107584	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:120107199-120107970	IMR90	lung:	n/a	n/a
19	TAF7	chr11:120107127-120108023	K562	blood:	n/a	n/a
20	POLR2A	chr11:120107243-120107756	HCT-116	colon:	n/a	n/a
21	TAF7	chr11:120107126-120107965	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL3	chr11:120107265-120108005	K562	blood:	n/a	chr11:120107719-120107726
23	POLR2A	chr11:120107147-120108002	GM12891	blood:	n/a	n/a
24	TAL1	chr11:120107265-120108218	K562	blood:	n/a	n/a
25	MAZ	chr11:120107274-120107622	K562	blood:	n/a	n/a
26	POLR2A	chr11:120107227-120107774	HCT-116	colon:	n/a	n/a
27	POLR2A	chr11:120107168-120108230	K562	blood:	n/a	n/a
28	POLR2A	chr11:120107281-120107833	HUVEC	blood vessel:	n/a	n/a
29	EGR1	chr11:120107190-120107857	K562	blood:	n/a	n/a
30	GATA3	chr11:120107160-120107905	T-47D	breast:	n/a	chr11:120107717-120107729 chr11:120107715-120107731 chr11:120107717-120107724 chr11:120107254-120107262 chr11:120107246-120107254
31	CEBPB	chr11:120107142-120107757	K562	blood:	n/a	n/a
32	BACH1	chr11:120107174-120107954	K562	blood:	n/a	n/a
33	ATF3	chr11:120107188-120107799	K562	blood:	n/a	n/a
34	POLR2A	chr11:120107218-120108040	GM12878	blood:	n/a	n/a
35	FOXA1	chr11:120107255-120107737	T-47D	breast:	n/a	n/a
36	ETS1	chr11:120107144-120107998	K562	blood:	n/a	n/a
37	EGR1	chr11:120107206-120107738	K562	blood:	n/a	n/a
38	POLR2A	chr11:120107231-120107728	NB4	blood:	n/a	n/a
39	YY1	chr11:120107250-120107731	K562	blood:	n/a	n/a
40	EP300	chr11:120107119-120107772	GM12878	blood:	n/a	chr11:120107224-120107238
41	POLR2A	chr11:120107113-120108108	K562	blood:	n/a	n/a
42	POLR2A	chr11:120107168-120108052	GM12878	blood:	n/a	n/a
43	REST	chr11:120107271-120107695	K562	blood:	n/a	n/a
44	MXI1	chr11:120107402-120107900	K562	blood:	n/a	n/a
45	SMC3	chr11:120107323-120107682	K562	blood:	n/a	n/a
46	SIN3AK20	chr11:120107178-120107805	K562	blood:	n/a	n/a
47	POLR2A	chr11:120107129-120107937	PFSK-1	brain:	n/a	n/a
48	TAF7	chr11:120107178-120107805	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr11:120107145-120107993	K562	blood:	n/a	n/a
50	SIN3AK20	chr11:120107167-120107658	MCF-7	breast:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:
2	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
3	chr11:120106492..120108262-chr11:120175100..120176692,2	MCF-7	breast:
4	chr11:120105900..120109423-chr11:120193866..120196780,3	MCF-7	breast:
5	chr11:120107374..120110396-chr11:120138871..120141159,3	K562	blood:
6	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
7	chr11:120105780..120109103-chr11:120204882..120208710,8	K562	blood:
8	chr11:120036264..120041871-chr11:120106231..120109757,9	K562	blood:
9	chr11:119987020..119991053-chr11:120105932..120108438,3	K562	blood:
10	chr11:120105974..120107720-chr11:120187522..120190071,3	K562	blood:
11	chr11:120105780..120109103-chr11:120204882..120208710,5	K562	blood:
12	chr11:120104352..120110604-chr11:120164438..120175098,43	MCF-7	breast:
13	chr11:119994516..119997307-chr11:120107170..120108750,2	MCF-7	breast:
14	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
15	chr11:120037531..120041521-chr11:120105416..120108760,8	K562	blood:
16	chr11:120107356..120109138-chr11:120361187..120363065,2	K562	blood:
17	chr11:120106275..120108882-chr16:71494675..71496479,2	MCF-7	breast:
18	chr11:120106132..120109259-chr11:120185529..120190071,6	K562	blood:
19	chr11:120105812..120109397-chr11:120193833..120197413,4	K562	blood:
20	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
21	chr11:120105904..120108316-chr11:120197614..120199213,2	K562	blood:

No data

Variant related genes	Relation type
POU2F3	TF binding region
ENSG00000196914	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000167377	Chromatin interaction
ENSG00000137699	Chromatin interaction
ENSG00000181264	Chromatin interaction
ENSG00000184232	Chromatin interaction
ENSG00000247324	Chromatin interaction
ENSG00000176984	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10892551	1.00[CHD][hapmap]
rs10892559	1.00[CHD][hapmap]
rs12808181	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1941411	1.00[CHD][hapmap]
rs2715881	1.00[CHD][hapmap]
rs2847494	1.00[CHD][hapmap]
rs2847495	1.00[CHD][hapmap]
rs2847502	1.00[CHD][hapmap]
rs873059	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs882856	PDZD3	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120096600-120110800	Weak transcription	Right Atrium	heart
2	chr11:120099800-120110800	Weak transcription	Ovary	ovary
3	chr11:120101600-120111000	Weak transcription	Liver	Liver
4	chr11:120102000-120108200	Weak transcription	Fetal Intestine Large	intestine
5	chr11:120105400-120108000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:120105600-120108000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:120105800-120107600	Enhancers	HMEC	breast
8	chr11:120105800-120107800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:120105800-120110000	Weak transcription	Fetal Intestine Small	intestine
10	chr11:120106000-120107600	Enhancers	NHEK	skin
11	chr11:120106000-120110200	Weak transcription	Spleen	Spleen
12	chr11:120106200-120107600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:120106200-120110400	Weak transcription	Pancreas	Pancrea
14	chr11:120106400-120107600	Enhancers	Brain Germinal Matrix	brain
15	chr11:120106800-120110400	Weak transcription	Esophagus	oesophagus
16	chr11:120107000-120108000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:120107000-120108400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:120107400-120107600	Enhancers	Fetal Brain Male	brain

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