Variant report

Variant	rs7934134
Chromosome Location	chr11:120105547-120105548
allele	C/T
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	CTCF	chr11:120105547-120105708	GM12891	blood:	n/a	n/a
2	CTCF	chr11:120105500-120105650	GM06990	blood:	n/a	n/a
3	CTCF	chr11:120105537-120106347	HCT-116	colon:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
4	CTCF	chr11:120105400-120105550	AG10803	skin:	n/a	n/a
5	RAD21	chr11:120105535-120106311	HCT-116	colon:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
6	RAD21	chr11:120105329-120106336	SK-N-SH	brain:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
7	CTCF	chr11:120105420-120105570	GM12874	blood:	n/a	n/a
8	CTCF	chr11:120105531-120105688	GM12892	blood:	n/a	n/a
9	RAD21	chr11:120105452-120106416	HCT-116	colon:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
10	CTCF	chr11:120105480-120105630	BE2_C	brain:	n/a	n/a
11	CTCF	chr11:120105480-120105630	HA-sp	spinal cord:	n/a	n/a
12	CTCF	chr11:120105490-120106523	A549	lung:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
13	RAD21	chr11:120105537-120106179	MCF-7	breast:	n/a	chr11:120105913-120105932 chr11:120105917-120105926
14	CTCF	chr11:120105460-120105610	AG04450	lung:	n/a	n/a
15	CTCF	chr11:120105480-120105630	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr11:120105531-120106086	GM19238	blood:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935
17	CTCF	chr11:120105500-120105650	NHEK	skin:	n/a	n/a
18	CTCF	chr11:120105535-120105660	GM12878	blood:	n/a	n/a
19	CTCF	chr11:120105520-120106405	HCT-116	colon:	n/a	chr11:120105912-120105930 chr11:120105915-120105928 chr11:120105913-120105929 chr11:120105915-120105928 chr11:120105914-120105935

No.	Distal block	Cell Line	Cell type
1	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:
2	chr11:120105076..120106736-chr11:120169805..120171450,18	K562	blood:
3	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
4	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
5	chr11:120105456..120106436-chr11:120173320..120174423,6	MCF-7	breast:
6	chr11:120042978..120043613-chr11:120105435..120106323,2	K562	blood:
7	chr11:120105385..120106108-chr11:120170023..120170943,3	MCF-7	breast:
8	chr11:120104352..120110604-chr11:120164438..120175098,43	MCF-7	breast:
9	chr11:120104850..120106373-chr11:120170312..120171433,18	MCF-7	breast:
10	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
11	chr11:120037531..120041521-chr11:120105416..120108760,8	K562	blood:
12	chr11:120105294..120106722-chr11:120173447..120174421,11	MCF-7	breast:
13	chr11:120105406..120106378-chr11:120172236..120174440,21	K562	blood:
14	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:

Variant related genes	Relation type
POU2F3	TF binding region
ENSG00000184232	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000176984	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11820277	0.87[AFR][1000 genomes]
rs1316281	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121914	0.84[ASW][hapmap];0.84[YRI][hapmap]

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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120096600-120110800	Weak transcription	Right Atrium	heart
2	chr11:120097200-120106200	Weak transcription	Esophagus	oesophagus
3	chr11:120099800-120110800	Weak transcription	Ovary	ovary
4	chr11:120100400-120106200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:120100600-120105800	Strong transcription	Fetal Intestine Small	intestine
6	chr11:120101600-120111000	Weak transcription	Liver	Liver
7	chr11:120102000-120108200	Weak transcription	Fetal Intestine Large	intestine
8	chr11:120103000-120105800	Weak transcription	HMEC	breast
9	chr11:120103800-120105800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:120104600-120105800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:120104600-120105800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
12	chr11:120104800-120105800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:120104800-120106000	Enhancers	Spleen	Spleen
14	chr11:120104800-120106800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:120105000-120105800	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr11:120105200-120105600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr11:120105200-120106200	Enhancers	Pancreas	Pancrea
18	chr11:120105400-120105600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr11:120105400-120106000	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr11:120105400-120106600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:120105400-120108000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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