Variant report

Variant	rs12808002
Chromosome Location	chr11:64110932-64110933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:64109230-64111125	IMR90	lung:	n/a	chr11:64110190-64110200

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64109881..64111855-chr11:64133926..64136409,2	K562	blood:
2	chr11:64001193..64003368-chr11:64108712..64111498,2	MCF-7	breast:
3	chr11:64008607..64011562-chr11:64108610..64113296,4	MCF-7	breast:
4	chr10:74450774..74453542-chr11:64109200..64111337,2	MCF-7	breast:
5	chr11:64078839..64083408-chr11:64108257..64111409,4	MCF-7	breast:
6	chr11:64012324..64016807-chr11:64110478..64112580,4	MCF-7	breast:
7	chr11:64083618..64086276-chr11:64108878..64111761,4	K562	blood:
8	chr11:64109881..64112376-chr11:64133926..64136409,3	K562	blood:
9	chr11:64072715..64075742-chr11:64108562..64111155,5	MCF-7	breast:
10	chr11:64035871..64037932-chr11:64108620..64111379,2	K562	blood:
11	chr11:63932620..63934152-chr11:64110470..64112736,2	MCF-7	breast:
12	chr11:63972230..63976425-chr11:64106710..64112651,7	K562	blood:
13	chr11:64036423..64038929-chr11:64108620..64112959,5	K562	blood:
14	chr11:64110456..64113002-chr11:64125236..64127679,2	MCF-7	breast:
15	chr11:63984496..63987106-chr11:64110759..64113104,2	K562	blood:
16	chr11:64109106..64114264-chr11:64115033..64120054,6	MCF-7	breast:
17	chr11:64070411..64072227-chr11:64108642..64111595,2	MCF-7	breast:
18	chr11:64068655..64075946-chr11:64105786..64111623,11	K562	blood:
19	chr11:64085064..64087232-chr11:64106469..64111767,5	MCF-7	breast:
20	chr11:64108620..64111741-chr11:64119418..64122798,4	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC88B	TF binding region
ENSG00000173457	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000173511	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000156026	Chromatin interaction
ENSG00000256116	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000221273	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000162302	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1047206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11600990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11606014	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12785488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12788266	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12793347	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12798408	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2276014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286614	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289573	0.81[AMR][1000 genomes]
rs28395875	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28395876	0.83[ASN][1000 genomes]
rs34292685	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34906890	0.83[AMR][1000 genomes]
rs35692796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294396	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs477895	0.87[EUR][1000 genomes]
rs66968227	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71456304	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71456309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71456310	0.81[AMR][1000 genomes]
rs7938380	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7939107	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7947143	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
6	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
10	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
11	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
12	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
13	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
14	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
15	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv555192	chr11:64097233-64111928	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	n/a
18	nsv818840	chr11:64097233-64125142	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
19	nsv818841	chr11:64097233-64129722	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
20	nsv555193	chr11:64107143-64120574	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases
21	nsv897688	chr11:64107735-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
22	esv3371829	chr11:64108901-64111749	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	19 gene(s)	inside rSNPs	n/a
23	nsv897689	chr11:64109118-64148420	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
24	esv3322945	chr11:64110026-64111024	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12808002	PPP1R14B	Cis_1M	lymphoblastoid	RTeQTL
rs12808002	TEX40	cis	Esophagus Mucosa	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64108200-64111200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:64108200-64111800	Enhancers	Placenta	Placenta
3	chr11:64108600-64111000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:64108800-64111000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:64108800-64111600	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr11:64108800-64111600	Genic enhancers	Spleen	Spleen
7	chr11:64109600-64111000	Enhancers	Liver	Liver
8	chr11:64109600-64111400	Enhancers	Gastric	stomach
9	chr11:64109800-64111000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:64110000-64111000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:64110000-64111000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr11:64110000-64111200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:64110000-64111200	Enhancers	Fetal Stomach	stomach
14	chr11:64110000-64111400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:64110000-64111400	Enhancers	Stomach Mucosa	stomach
16	chr11:64110000-64111600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:64110000-64111600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:64110000-64111600	Genic enhancers	GM12878-XiMat	blood
19	chr11:64110000-64111600	Enhancers	K562	blood
20	chr11:64110000-64112200	Enhancers	Fetal Intestine Large	intestine
21	chr11:64110000-64113200	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr11:64110000-64114600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:64110000-64115800	Weak transcription	HSMM	muscle
24	chr11:64110000-64122400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:64110200-64111000	Weak transcription	Primary B cells from cord blood	blood
26	chr11:64110200-64111000	Enhancers	Pancreas	Pancrea
27	chr11:64110200-64111000	Enhancers	HMEC	breast
28	chr11:64110200-64111200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:64110200-64111600	Enhancers	Esophagus	oesophagus
30	chr11:64110200-64112800	Enhancers	Fetal Muscle Leg	muscle
31	chr11:64110200-64113400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:64110200-64117800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:64110200-64125000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:64110200-64125200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:64110400-64111000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr11:64110400-64111000	Enhancers	Adipose Nuclei	Adipose
37	chr11:64110400-64111000	Enhancers	Brain Anterior Caudate	brain
38	chr11:64110400-64111000	Enhancers	Duodenum Mucosa	Duodenum
39	chr11:64110400-64111000	Enhancers	Rectal Smooth Muscle	rectum
40	chr11:64110400-64111000	Genic enhancers	Right Atrium	heart
41	chr11:64110400-64111000	Enhancers	Right Ventricle	heart
42	chr11:64110400-64111000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:64110400-64111200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:64110400-64111200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:64110400-64111200	Genic enhancers	Fetal Thymus	thymus
46	chr11:64110400-64111200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr11:64110400-64111400	Enhancers	A549	lung
48	chr11:64110400-64111600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr11:64110400-64112200	Enhancers	Fetal Intestine Small	intestine
50	chr11:64110400-64114600	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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