Variant report

Variant	rs1190624
Chromosome Location	chr11:66112574-66112575
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:474)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:66112460-66112610	A549	lung:	n/a	n/a
2	MYC	chr11:66112314-66112936	NB4	blood:	n/a	n/a
3	ELF1	chr11:66112280-66113047	A549	lung:	n/a	n/a
4	SIN3AK20	chr11:66112378-66112745	H1-hESC	embryonic stem cell:	n/a	n/a
5	TAF1	chr11:66112398-66112836	K562	blood:	n/a	n/a
6	CEBPB	chr11:66112361-66112941	GM12878	blood:	n/a	n/a
7	TEAD4	chr11:66112357-66112836	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr11:66112373-66112872	SK-N-SH	brain:	n/a	chr11:66112762-66112770
9	TBL1XR1	chr11:66112400-66112879	K562	blood:	n/a	n/a
10	POU2F2	chr11:66112290-66112862	GM12891	blood:	n/a	n/a
11	POLR2A	chr11:66112266-66112914	MCF10A-Er-Src	breast:	n/a	n/a
12	TAF1	chr11:66112228-66112988	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr11:66112290-66112878	GM18526	blood:	n/a	n/a
14	SIN3AK20	chr11:66112365-66112772	K562	blood:	n/a	n/a
15	POLR2A	chr11:66112280-66112754	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:66112220-66112897	SK-N-SH	brain:	n/a	n/a
17	TBP	chr11:66112342-66112868	K562	blood:	n/a	n/a
18	POLR2A	chr11:66112129-66112958	GM12892	blood:	n/a	n/a
19	TCF12	chr11:66112326-66112706	GM12878	blood:	n/a	n/a
20	ELK1	chr11:66112418-66112833	Hela-S3	cervix:	n/a	n/a
21	THAP1	chr11:66112429-66112725	K562	blood:	n/a	n/a
22	MAZ	chr11:66112328-66112847	Hela-S3	cervix:	n/a	n/a
23	POU2F2	chr11:66112337-66112730	GM12878	blood:	n/a	n/a
24	FOSL2	chr11:66112179-66113232	A549	lung:	n/a	n/a
25	POLR2A	chr11:66112295-66112869	GM15510	blood:	n/a	n/a
26	POLR2A	chr11:66112291-66112881	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:66112229-66112882	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr11:66112416-66112789	K562	blood:	n/a	n/a
29	CTCF	chr11:66112440-66112590	GM12867	blood:	n/a	n/a
30	ETS1	chr11:66112259-66112881	K562	blood:	n/a	chr11:66112266-66112279
31	POLR2A	chr11:66112219-66112825	A549	lung:	n/a	n/a
32	CTCF	chr11:66112426-66112685	Lung_OC	lung:	n/a	n/a
33	CHD2	chr11:66112399-66112781	H1-hESC	embryonic stem cell:	n/a	n/a
34	FOXM1	chr11:66112306-66112888	GM12878	blood:	n/a	n/a
35	ELK1	chr11:66112382-66113107	GM12878	blood:	n/a	n/a
36	CREB1	chr11:66112137-66112943	HepG2	liver:	n/a	n/a
37	POLR2A	chr11:66112193-66112882	PFSK-1	brain:	n/a	n/a
38	POU2F2	chr11:66112339-66112610	GM12878	blood:	n/a	n/a
39	PML	chr11:66112319-66112719	GM12878	blood:	n/a	n/a
40	CTCF	chr11:66112500-66112650	GM12866	blood:	n/a	n/a
41	CCNT2	chr11:66112299-66112822	K562	blood:	n/a	chr11:66112808-66112817
42	ZNF143	chr11:66112375-66112822	Hela-S3	cervix:	n/a	chr11:66112439-66112457 chr11:66112641-66112656
43	PML	chr11:66112246-66112943	K562	blood:	n/a	n/a
44	MAFK	chr11:66112450-66112815	K562	blood:	n/a	n/a
45	CBX3	chr11:66112430-66112728	K562	blood:	n/a	n/a
46	ZMIZ1	chr11:66112439-66112936	K562	blood:	n/a	n/a
47	POLR2A	chr11:66112238-66112840	GM12891	blood:	n/a	n/a
48	POLR2A	chr11:66112271-66112913	GM19193	blood:	n/a	n/a
49	MYC	chr11:66112447-66112732	K562	blood:	n/a	n/a
50	MXI1	chr11:66112242-66112926	Hela-S3	cervix:	n/a	chr11:66112666-66112681

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66108839..66110813-chr11:66110934..66112585,3	K562	blood:
2	chr11:66084372..66086380-chr11:66109864..66112582,2	MCF-7	breast:
3	chr11:66043530..66045792-chr11:66110035..66112602,2	MCF-7	breast:
4	chr11:65625352..65628744-chr11:66111177..66113723,3	K562	blood:
5	chr11:65850193..65852902-chr11:66111593..66113196,2	MCF-7	breast:
6	chr11:66055270..66057597-chr11:66112530..66115409,2	K562	blood:
7	chr11:66108426..66118730-chr11:66133678..66141000,25	MCF-7	breast:
8	chr11:66112568..66115991-chr11:66232682..66235735,3	K562	blood:
9	chr11:66056831..66061115-chr11:66109718..66114909,6	MCF-7	breast:
10	chr11:66077239..66082197-chr11:66111995..66115447,5	MCF-7	breast:
11	chr11:66111080..66113877-chr17:56707692..56710441,2	MCF-7	breast:
12	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:
13	chr11:66079011..66083261-chr11:66109999..66114385,7	MCF-7	breast:
14	chr11:66111992..66114342-chr11:66382242..66384308,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255468	TF binding region
BRMS1	TF binding region
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000179292	Chromatin interaction
ENSG00000254452	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000174516	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000199325	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000174807	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11227481	1.00[MEX][hapmap]
rs8187661	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947977	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv897783	chr11:66107527-66118676	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv897784	chr11:66111901-66123043	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv897785	chr11:66112574-66123043	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1190624	FAM184A	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66111200-66113000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:66111200-66115000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:66111400-66112600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:66111400-66113000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:66111400-66113000	Active TSS	A549	lung
6	chr11:66111400-66113000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr11:66111400-66113200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:66111600-66112800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr11:66111600-66113000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:66111600-66113000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr11:66111600-66113000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr11:66111600-66113000	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr11:66111600-66113000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:66111600-66113200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr11:66111600-66113200	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr11:66111600-66114600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:66111800-66112600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:66111800-66112600	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr11:66111800-66112800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:66111800-66112800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:66111800-66112800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:66111800-66112800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:66111800-66112800	Active TSS	Esophagus	oesophagus
24	chr11:66111800-66112800	Active TSS	Left Ventricle	heart
25	chr11:66111800-66112800	Active TSS	Psoas Muscle	Psoas
26	chr11:66111800-66112800	Active TSS	Right Atrium	heart
27	chr11:66111800-66112800	Active TSS	Right Ventricle	heart
28	chr11:66111800-66112800	Active TSS	Small Intestine	intestine
29	chr11:66111800-66112800	Active TSS	NHLF	lung
30	chr11:66111800-66113000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr11:66111800-66113000	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr11:66111800-66113000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:66111800-66113000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr11:66111800-66113000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:66111800-66113000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:66111800-66113000	Active TSS	Lung	lung
37	chr11:66112000-66112600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:66112000-66112600	Active TSS	HMEC	breast
39	chr11:66112000-66112800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:66112000-66112800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:66112000-66112800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:66112000-66112800	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr11:66112000-66112800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:66112000-66112800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:66112000-66112800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:66112000-66112800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:66112000-66112800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr11:66112000-66112800	Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:66112000-66112800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:66112000-66112800	Active TSS	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links