Variant report

Variant	rs11217699
Chromosome Location	chr11:119993995-119993996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:119993731-119994109	Hela-S3	cervix:	n/a	chr11:119993841-119993850
2	USF2	chr11:119993793-119994303	Hela-S3	cervix:	n/a	chr11:119994159-119994170
3	POLR2A	chr11:119993714-119994093	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:119991787-119995121	Hela-S3	cervix:	n/a	n/a
5	ELF1	chr11:119993958-119994423	HepG2	liver:	n/a	chr11:119994206-119994219
6	SMC3	chr11:119993617-119994244	Hela-S3	cervix:	n/a	n/a
7	TCF7L2	chr11:119993850-119994142	Hela-S3	cervix:	n/a	n/a
8	RFX5	chr11:119993733-119994207	Hela-S3	cervix:	n/a	n/a
9	CUX1	chr11:119993934-119994134	K562	blood:	n/a	n/a
10	POLR2A	chr11:119991838-119994802	Hela-S3	cervix:	n/a	n/a
11	TBP	chr11:119993702-119994203	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:119993608-119994041	Hela-S3	cervix:	n/a	n/a
13	SMARCC1	chr11:119991833-119996186	Hela-S3	cervix:	n/a	chr11:119993842-119993851 chr11:119995853-119995862 chr11:119993841-119993850 chr11:119994713-119994722
14	EBF1	chr11:119993954-119994139	GM12878	blood:	n/a	n/a
15	TAF1	chr11:119993744-119994083	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr11:119993953-119994441	K562	blood:	n/a	n/a
17	RCOR1	chr11:119993963-119994273	K562	blood:	n/a	n/a
18	TEAD4	chr11:119993921-119994297	K562	blood:	n/a	n/a
19	GTF2F1	chr11:119993620-119994523	Hela-S3	cervix:	n/a	n/a
20	ZNF143	chr11:119993581-119994102	Hela-S3	cervix:	n/a	n/a
21	ELF1	chr11:119993887-119994369	K562	blood:	n/a	chr11:119994206-119994219
22	POLR2A	chr11:119992885-119994362	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr11:119993662-119994317	Hela-S3	cervix:	n/a	n/a
24	ELF1	chr11:119993939-119994459	K562	blood:	n/a	chr11:119994206-119994219
25	MXI1	chr11:119993801-119994239	Hela-S3	cervix:	n/a	n/a
26	MAX	chr11:119993614-119994300	Hela-S3	cervix:	n/a	chr11:119993841-119993850
27	POLR2A	chr11:119993817-119994105	MCF10A-Er-Src	breast:	n/a	n/a
28	JUND	chr11:119993772-119994256	K562	blood:	n/a	chr11:119993841-119993850 chr11:119993841-119993851 chr11:119993840-119993851 chr11:119993840-119993852 chr11:119993842-119993851
29	POLR2A	chr11:119993507-119994759	Hela-S3	cervix:	n/a	n/a
30	JUND	chr11:119993654-119994153	Hela-S3	cervix:	n/a	chr11:119993841-119993850 chr11:119993841-119993851 chr11:119993840-119993851 chr11:119993840-119993852 chr11:119993842-119993851
31	CHD2	chr11:119993666-119994101	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:119992602..119994710-chr11:119998240..120000665,2	MCF-7	breast:
2	chr11:119988388..119990806-chr11:119992979..119995049,2	MCF-7	breast:
3	chr11:119993537..119997499-chr11:119998076..120003019,6	K562	blood:
4	chr11:119992107..119994567-chr11:120009192..120013001,3	MCF-7	breast:
5	chr11:119992154..119994463-chr11:120170248..120173038,2	MCF-7	breast:
6	chr11:119598280..119601010-chr11:119990751..119994590,4	MCF-7	breast:

Variant related genes	Relation type
TRIM29	TF binding region
ENSG00000110400	Chromatin interaction
ENSG00000254854	Chromatin interaction
ENSG00000137699	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10790369	0.85[GIH][hapmap];0.83[JPT][hapmap]
rs10892536	1.00[EUR][1000 genomes]
rs10892542	0.87[GIH][hapmap];0.81[AMR][1000 genomes]
rs11217677	1.00[EUR][1000 genomes]
rs11217683	1.00[EUR][1000 genomes]
rs11217684	1.00[EUR][1000 genomes]
rs11217685	1.00[EUR][1000 genomes]
rs11217690	1.00[EUR][1000 genomes]
rs11217691	1.00[EUR][1000 genomes]
rs11217692	1.00[EUR][1000 genomes]
rs11217694	1.00[EUR][1000 genomes]
rs11217696	0.81[AMR][1000 genomes]
rs11217697	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217701	0.91[ASN][1000 genomes]
rs11217705	0.85[JPT][hapmap]
rs11217732	0.84[JPT][hapmap]
rs11217739	0.85[JPT][hapmap]
rs11217742	0.85[GIH][hapmap];0.85[JPT][hapmap]
rs11217748	0.85[JPT][hapmap]
rs11217749	0.85[GIH][hapmap];0.85[JPT][hapmap]
rs11217750	0.83[JPT][hapmap]
rs11604169	0.81[AMR][1000 genomes]
rs12049837	0.83[JPT][hapmap]
rs12224041	0.91[ASN][1000 genomes]
rs12224472	0.87[ASN][1000 genomes]
rs12417601	0.81[AMR][1000 genomes]
rs12418174	1.00[EUR][1000 genomes]
rs12419511	0.85[GIH][hapmap];0.85[JPT][hapmap]
rs12419706	1.00[EUR][1000 genomes]
rs12419830	0.91[ASN][1000 genomes]
rs12420985	0.80[ASN][1000 genomes]
rs12421654	0.81[AMR][1000 genomes]
rs12422179	0.85[GIH][hapmap]
rs2276159	0.81[AMR][1000 genomes]
rs2276160	1.00[EUR][1000 genomes]
rs3740728	0.85[JPT][hapmap]
rs3740729	0.85[JPT][hapmap]
rs3740731	0.85[JPT][hapmap]
rs3781667	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781668	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781669	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824881	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3824882	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3896312	1.00[EUR][1000 genomes]
rs4938778	1.00[EUR][1000 genomes]
rs57144901	1.00[EUR][1000 genomes]
rs58043425	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61095798	1.00[EUR][1000 genomes]
rs7118957	0.85[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119987400-119994400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:119991200-119996600	Enhancers	Placenta	Placenta
3	chr11:119991200-119997000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:119991200-119999000	Genic enhancers	HMEC	breast
5	chr11:119991400-119994200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
6	chr11:119991400-119996000	Enhancers	Stomach Mucosa	stomach
7	chr11:119992200-119994200	Weak transcription	Spleen	Spleen
8	chr11:119992200-119994800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:119992600-119994600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:119993000-119994400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:119993000-119994600	Enhancers	Fetal Intestine Large	intestine
12	chr11:119993200-119994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:119993200-119995200	Flanking Active TSS	Hela-S3	cervix
14	chr11:119993400-119998800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:119993400-119998800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:119993400-119999800	Weak transcription	Fetal Thymus	thymus
17	chr11:119993400-120000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:119993600-119994600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:119993600-119994800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:119993600-119995800	Genic enhancers	NHEK	skin
21	chr11:119993600-119996000	Enhancers	K562	blood
22	chr11:119993800-119994600	Bivalent Enhancer	HepG2	liver
23	chr11:119993800-119996800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:119993800-119996800	Genic enhancers	Esophagus	oesophagus
25	chr11:119993800-120001800	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links