Variant report

Variant	rs7116029
Chromosome Location	chr11:75162918-75162919
allele	G/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	RAD21	chr11:75162487-75162946	A549	lung:	n/a	chr11:75162693-75162707 chr11:75162689-75162708
2	CTCF	chr11:75162502-75162940	K562	blood:	n/a	chr11:75162691-75162709 chr11:75162686-75162707 chr11:75162693-75162706 chr11:75162692-75162708
3	CEBPB	chr11:75162630-75162953	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr11:75162470-75162940	ECC-1	luminal epithelium:	n/a	chr11:75162693-75162707 chr11:75162689-75162708
5	CTCF	chr11:75162392-75163016	HCT-116	colon:	n/a	chr11:75162691-75162709 chr11:75162686-75162707 chr11:75162693-75162706 chr11:75162692-75162708
6	CEBPB	chr11:75162847-75162973	K562	blood:	n/a	n/a
7	CTCF	chr11:75162382-75163029	SK-N-SH	brain:	n/a	chr11:75162691-75162709 chr11:75162686-75162707 chr11:75162693-75162706 chr11:75162692-75162708
8	RAD21	chr11:75162436-75162966	HCT-116	colon:	n/a	chr11:75162693-75162707 chr11:75162689-75162708
9	CTCF	chr11:75162366-75163120	A549	lung:	n/a	chr11:75162691-75162709 chr11:75162686-75162707 chr11:75162693-75162706 chr11:75162692-75162708
10	CTCF	chr11:75162499-75162973	MCF-7	breast:	n/a	chr11:75162691-75162709 chr11:75162686-75162707 chr11:75162693-75162706 chr11:75162692-75162708
11	CTCF	chr11:75162840-75162990	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:74991226..74991750-chr11:75162225..75163031,2	MCF-7	breast:
2	chr11:75109851..75112831-chr11:75160838..75163878,3	MCF-7	breast:
3	chr11:75153115..75155939-chr11:75160007..75164426,4	MCF-7	breast:
4	chr11:75099497..75100327-chr11:75162666..75163351,2	K562	blood:
5	chr11:75162095..75164647-chr11:75235506..75237767,3	MCF-7	breast:

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000206941	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17133983	1.00[AMR][1000 genomes]
rs7116757	1.00[AMR][1000 genomes]
rs7126260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494875	1.00[AMR][1000 genomes]
rs73494876	1.00[AMR][1000 genomes]
rs73494878	1.00[AMR][1000 genomes]
rs73494879	1.00[AMR][1000 genomes]
rs7933166	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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75141800-75165400	Weak transcription	Right Atrium	heart
2	chr11:75142000-75165200	Weak transcription	Ovary	ovary
3	chr11:75144200-75164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:75144200-75165400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:75144200-75186600	Weak transcription	Gastric	stomach
6	chr11:75144400-75179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:75144600-75174000	Weak transcription	Liver	Liver
8	chr11:75145000-75167800	Strong transcription	Placenta	Placenta
9	chr11:75145200-75165200	Weak transcription	A549	lung
10	chr11:75145200-75186200	Weak transcription	Primary T cells from cord blood	blood
11	chr11:75145200-75186400	Strong transcription	Fetal Intestine Small	intestine
12	chr11:75146400-75163200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:75146400-75173000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:75147800-75186000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:75148000-75163800	Weak transcription	Lung	lung
16	chr11:75148200-75186000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:75150400-75172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:75153400-75168000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:75153600-75167200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:75153800-75176600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:75154400-75165400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:75154400-75165400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:75159000-75164400	Strong transcription	HSMMtube	muscle
24	chr11:75159000-75172800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:75160600-75167200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:75160600-75173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:75161600-75166200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:75161600-75176600	Weak transcription	Right Ventricle	heart
29	chr11:75162200-75164400	Strong transcription	HepG2	liver
30	chr11:75162200-75171800	Weak transcription	NHDF-Ad	bronchial
31	chr11:75162600-75163600	Weak transcription	Pancreas	Pancrea
32	chr11:75162600-75164800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:75162600-75165200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:75162600-75166200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:75162600-75166800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:75162600-75172400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:75162800-75163800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr11:75162800-75164000	Strong transcription	Adipose Nuclei	Adipose
39	chr11:75162800-75164000	Strong transcription	Spleen	Spleen
40	chr11:75162800-75164600	Strong transcription	Fetal Intestine Large	intestine
41	chr11:75162800-75185000	Weak transcription	Primary monocytes fromperipheralblood	blood

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