Variant report

Variant	rs41275184
Chromosome Location	chr11:47279096-47279097
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	MBD4	chr11:47278889-47279372	HepG2	liver:	n/a	n/a
2	HNF4G	chr11:47278894-47279567	HepG2	liver:	n/a	chr11:47279169-47279181
3	FOS	chr11:47279086-47279169	MCF10A-Er-Src	breast:	n/a	n/a
4	MAZ	chr11:47278766-47279794	Hela-S3	cervix:	n/a	chr11:47279428-47279438
5	EP300	chr11:47279016-47279273	Hela-S3	cervix:	n/a	n/a
6	EP300	chr11:47278888-47279390	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:47278753-47279854	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr11:47279042-47279624	K562	blood:	n/a	chr11:47279428-47279438
9	TFAP2A	chr11:47278615-47279625	Hela-S3	cervix:	n/a	chr11:47279422-47279434 chr11:47279422-47279434 chr11:47279093-47279108 chr11:47278730-47278740 chr11:47279422-47279434 chr11:47278973-47278985 chr11:47278730-47278740 chr11:47278730-47278740 chr11:47279060-47279070 chr11:47278730-47278740 chr11:47278973-47278985 chr11:47278973-47278985 chr11:47279058-47279073 chr11:47279422-47279434
10	JUND	chr11:47279025-47279167	K562	blood:	n/a	n/a
11	ZBTB7A	chr11:47279024-47279839	ECC-1	luminal epithelium:	n/a	n/a
12	TAF1	chr11:47278919-47279388	Hela-S3	cervix:	n/a	n/a
13	SIN3AK20	chr11:47278641-47279495	MCF-7	breast:	n/a	n/a
14	POLR2A	chr11:47278846-47279887	K562	blood:	n/a	n/a
15	MAX	chr11:47278830-47279539	HepG2	liver:	n/a	chr11:47279428-47279438
16	CEBPB	chr11:47278999-47279294	HepG2	liver:	n/a	n/a
17	STAT3	chr11:47278990-47279285	MCF10A-Er-Src	breast:	n/a	chr11:47279147-47279168
18	CEBPB	chr11:47278916-47279294	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr11:47278954-47279706	K562	blood:	n/a	chr11:47279428-47279438
20	POLR2A	chr11:47278816-47279716	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:47278969-47279826	U87	brain:	n/a	n/a
22	CTCF	chr11:47279080-47279230	Hela-S3	cervix:	n/a	n/a
23	TCF7L2	chr11:47278821-47279270	Hela-S3	cervix:	n/a	n/a
24	BHLHE40	chr11:47279084-47279676	K562	blood:	n/a	n/a
25	RAD21	chr11:47278939-47280017	SK-N-SH	brain:	n/a	n/a
26	CEBPD	chr11:47278971-47279307	HepG2	liver:	n/a	n/a
27	CEBPB	chr11:47278556-47279740	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:47278849-47279347	SK-N-MC	brain:	n/a	n/a
29	MAX	chr11:47278875-47279698	A549	lung:	n/a	chr11:47279428-47279438
30	MBD4	chr11:47278990-47279429	HepG2	liver:	n/a	n/a
31	MAX	chr11:47279069-47279302	HepG2	liver:	n/a	n/a
32	MAX	chr11:47278677-47279728	Hela-S3	cervix:	n/a	chr11:47279428-47279438
33	RXRA	chr11:47278971-47279315	HepG2	liver:	n/a	chr11:47279169-47279183
34	MAX	chr11:47278984-47279685	ECC-1	luminal epithelium:	n/a	chr11:47279428-47279438
35	CEBPB	chr11:47278960-47279337	A549	lung:	n/a	n/a
36	SMC3	chr11:47278690-47279821	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr11:47278875-47279947	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:47279034-47279564	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr11:47278927-47279367	A549	lung:	n/a	n/a
40	POLR2A	chr11:47279037-47279453	H1-hESC	embryonic stem cell:	n/a	n/a
41	ZNF143	chr11:47278982-47279731	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr11:47278617-47279780	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr11:47278799-47279424	MCF-7	breast:	n/a	n/a
44	MAZ	chr11:47278957-47279702	HepG2	liver:	n/a	chr11:47279428-47279438
45	POLR2A	chr11:47278808-47279528	PFSK-1	brain:	n/a	n/a
46	POLR2A	chr11:47279046-47279364	A549	lung:	n/a	n/a
47	HEY1	chr11:47278861-47279689	HepG2	liver:	n/a	n/a
48	MYC	chr11:47279075-47279474	H1-hESC	embryonic stem cell:	n/a	chr11:47279428-47279438
49	ZKSCAN1	chr11:47278923-47279682	Hela-S3	cervix:	n/a	n/a
50	MAX	chr11:47278853-47279583	A549	lung:	n/a	chr11:47279428-47279438

No.	Distal block	Cell Line	Cell type
1	chr11:47278014..47279566-chr11:47397375..47399995,2	K562	blood:
2	chr11:47196892..47202921-chr11:47278417..47285951,9	MCF-7	breast:
3	chr11:47265054..47272453-chr11:47272862..47282933,17	MCF-7	breast:
4	chr11:47198598..47200151-chr11:47277071..47279146,2	K562	blood:
5	chr11:47205592..47209017-chr11:47278399..47281373,5	MCF-7	breast:
6	chr11:47198332..47200151-chr11:47277071..47279374,2	K562	blood:
7	chr11:47277336..47279783-chr11:47290576..47292976,4	MCF-7	breast:
8	chr11:47268496..47273681-chr11:47277782..47283365,10	K562	blood:
9	chr11:47277979..47283267-chr11:47289057..47293509,9	K562	blood:
10	chr11:47267134..47271941-chr11:47277592..47282899,11	MCF-7	breast:

Variant related genes	Relation type
NR1H3	TF binding region
ENSG00000149182	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs41275186	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs41303843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61896118	1.00[AFR][1000 genomes]
rs61896119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61897360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61897778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61897779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61897783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61897789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS 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	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47271000-47280800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47271400-47279200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:47271400-47281000	Weak transcription	Thymus	Thymus
4	chr11:47271400-47281200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:47271400-47281200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:47271400-47281200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:47271400-47281200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:47272400-47286400	Weak transcription	Dnd41	blood
9	chr11:47275800-47279400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:47275800-47286800	Weak transcription	Primary T cells from cord blood	blood
11	chr11:47276600-47279600	Weak transcription	Fetal Thymus	thymus
12	chr11:47276800-47280800	Weak transcription	HSMMtube	muscle
13	chr11:47277000-47279200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:47277000-47279200	Weak transcription	Brain Substantia Nigra	brain
15	chr11:47277000-47279400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:47277000-47282000	Weak transcription	Spleen	Spleen
17	chr11:47277200-47279200	Weak transcription	Fetal Kidney	kidney
18	chr11:47277800-47279800	Enhancers	Stomach Mucosa	stomach
19	chr11:47278000-47279200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:47278600-47279200	Enhancers	NHDF-Ad	bronchial
21	chr11:47278600-47279400	Enhancers	Fetal Lung	lung
22	chr11:47278600-47279400	Enhancers	NHEK	skin
23	chr11:47278600-47279800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:47278600-47280000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:47278600-47280200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr11:47278600-47280200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:47278600-47280400	Enhancers	Small Intestine	intestine
28	chr11:47278600-47281600	Enhancers	Fetal Heart	heart
29	chr11:47278600-47282000	Flanking Active TSS	Hela-S3	cervix
30	chr11:47278800-47279200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:47278800-47279200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:47278800-47279200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr11:47278800-47279200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:47278800-47279200	Flanking Active TSS	Liver	Liver
35	chr11:47278800-47279200	Active TSS	Brain Germinal Matrix	brain
36	chr11:47278800-47279200	Enhancers	Esophagus	oesophagus
37	chr11:47278800-47279200	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr11:47278800-47279200	Enhancers	Lung	lung
39	chr11:47278800-47279200	Enhancers	Ovary	ovary
40	chr11:47278800-47279200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr11:47278800-47279200	Flanking Active TSS	HepG2	liver
42	chr11:47278800-47279200	Enhancers	NHLF	lung
43	chr11:47278800-47279200	Flanking Active TSS	Osteobl	bone
44	chr11:47278800-47279400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:47278800-47279400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:47278800-47279400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:47278800-47279400	Enhancers	Primary hematopoietic stem cells	blood
48	chr11:47278800-47279400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:47278800-47279400	Enhancers	Brain Angular Gyrus	brain
50	chr11:47278800-47279400	Enhancers	Fetal Brain Male	brain

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