Variant report

Variant	rs11183817
Chromosome Location	chr12:47638429-47638430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr12:47638224-47639121	A549	lung:	n/a	n/a
2	RCOR1	chr12:47638422-47638987	K562	blood:	n/a	n/a
3	ARID3A	chr12:47638403-47639064	K562	blood:	n/a	n/a
4	GATA3	chr12:47638383-47639063	T-47D	breast:	n/a	n/a
5	REST	chr12:47638363-47638686	PFSK-1	brain:	n/a	n/a
6	GATA3	chr12:47638358-47639109	T-47D	breast:	n/a	n/a
7	ESR1	chr12:47638426-47638993	T-47D	breast:	n/a	n/a
8	RCOR1	chr12:47638429-47638902	K562	blood:	n/a	n/a
9	JUND	chr12:47638380-47639058	T-47D	breast:	n/a	n/a
10	EP300	chr12:47638371-47639097	T-47D	breast:	n/a	n/a
11	GATA2	chr12:47638420-47638992	K562	blood:	n/a	n/a
12	JUND	chr12:47638369-47639137	T-47D	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47474456..47476643-chr12:47638235..47640593,2	MCF-7	breast:
2	chr12:47632571..47635332-chr12:47636827..47638575,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM113B-6	chr12:47638244-47638715	NONHSAT027910

No data

Variant related genes	Relation type
ENSG00000258181	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12296357	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296625	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12297876	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12298308	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299244	1.00[EUR][1000 genomes]
rs12322626	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17097565	1.00[EUR][1000 genomes]
rs17097665	1.00[EUR][1000 genomes]
rs17097666	1.00[EUR][1000 genomes]
rs58782672	1.00[EUR][1000 genomes]
rs73293898	1.00[AMR][1000 genomes]
rs73293901	1.00[EUR][1000 genomes]
rs73295559	1.00[EUR][1000 genomes]
rs73295573	1.00[EUR][1000 genomes]
rs73297553	1.00[AMR][1000 genomes]
rs73297554	1.00[AMR][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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription 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	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11183817	FAM84A	trans	lymphoblastoid	seeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47618600-47638600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:47619000-47643600	Weak transcription	Pancreas	Pancrea
3	chr12:47629200-47643000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:47629400-47641200	Weak transcription	Aorta	Aorta
5	chr12:47630400-47644000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:47630400-47653600	Weak transcription	Primary B cells from cord blood	blood
7	chr12:47631600-47643000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:47632000-47643000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:47632600-47644600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:47632600-47646000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:47633200-47641200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:47633200-47653800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:47633400-47643200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:47636200-47653400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:47636400-47642600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:47636400-47643000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:47636600-47641200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:47636600-47641200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:47636600-47641200	Weak transcription	NHEK	skin
20	chr12:47636600-47642400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:47636600-47642400	Weak transcription	Primary T cells from cord blood	blood
22	chr12:47636600-47642400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:47636600-47642400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:47636600-47642600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:47636600-47643800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:47636600-47647000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:47637800-47638800	Enhancers	Fetal Intestine Large	intestine
28	chr12:47638000-47639200	Enhancers	Placenta	Placenta
29	chr12:47638000-47639600	Enhancers	K562	blood
30	chr12:47638400-47638600	Flanking Active TSS	A549	lung
31	chr12:47638400-47639400	Enhancers	Fetal Intestine Small	intestine

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