Variant report

Variant	rs180825178
Chromosome Location	chr11:10511751-10511752
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	EP300	chr11:10511678-10513065	ECC-1	luminal epithelium:	n/a	chr11:10512309-10512318 chr11:10512263-10512270
2	NFIC	chr11:10511574-10513009	ECC-1	luminal epithelium:	n/a	n/a
3	FOSL2	chr11:10511746-10512721	A549	lung:	n/a	chr11:10512310-10512318 chr11:10512308-10512319 chr11:10512311-10512318 chr11:10512225-10512236 chr11:10512308-10512320 chr11:10512309-10512319 chr11:10512310-10512318 chr11:10512223-10512232
4	SP1	chr11:10511492-10512951	HCT-116	colon:	n/a	n/a
5	POLR2A	chr11:10511697-10511785	K562	blood:	n/a	n/a
6	RCOR1	chr11:10511677-10512814	Hela-S3	cervix:	n/a	n/a
7	SP1	chr11:10511679-10512816	HCT-116	colon:	n/a	n/a
8	EP300	chr11:10511744-10513091	SK-N-SH	brain:	n/a	chr11:10512309-10512318 chr11:10512263-10512270
9	TFAP2C	chr11:10511727-10512883	Hela-S3	cervix:	n/a	n/a
10	FOS	chr11:10511718-10512750	HUVEC	blood vessel:	n/a	chr11:10512310-10512318 chr11:10512308-10512319 chr11:10512311-10512318 chr11:10512222-10512233 chr11:10512225-10512236 chr11:10512308-10512320 chr11:10512309-10512319 chr11:10512310-10512318 chr11:10512223-10512232
11	JUND	chr11:10511663-10512761	HCT-116	colon:	n/a	chr11:10512310-10512318 chr11:10512308-10512319 chr11:10512311-10512318 chr11:10512225-10512236 chr11:10512308-10512320 chr11:10512309-10512319 chr11:10512310-10512318 chr11:10512223-10512232 chr11:10512222-10512233
12	TCF12	chr11:10511666-10513078	ECC-1	luminal epithelium:	n/a	n/a
13	FOSL1	chr11:10511652-10512923	HCT-116	colon:	n/a	chr11:10512310-10512318 chr11:10512308-10512319 chr11:10512222-10512233 chr11:10512311-10512318 chr11:10512225-10512236 chr11:10512308-10512320 chr11:10512309-10512319 chr11:10512857-10512866 chr11:10512310-10512318 chr11:10512223-10512232
14	NFIC	chr11:10511704-10513080	SK-N-SH	brain:	n/a	n/a
15	NFIC	chr11:10511723-10513222	ECC-1	luminal epithelium:	n/a	n/a
16	FOSL1	chr11:10511642-10512923	HCT-116	colon:	n/a	chr11:10512310-10512318 chr11:10512308-10512319 chr11:10512222-10512233 chr11:10512311-10512318 chr11:10512225-10512236 chr11:10512308-10512320 chr11:10512309-10512319 chr11:10512857-10512866 chr11:10512310-10512318 chr11:10512223-10512232
17	SMARCC1	chr11:10511698-10512758	Hela-S3	cervix:	n/a	n/a
18	JUND	chr11:10511455-10513079	SK-N-SH	brain:	n/a	chr11:10512310-10512318 chr11:10512308-10512319 chr11:10512311-10512318 chr11:10512225-10512236 chr11:10512308-10512320 chr11:10512309-10512319 chr11:10512857-10512866 chr11:10512310-10512318 chr11:10512223-10512232 chr11:10512222-10512233
19	TCF12	chr11:10511700-10513156	SK-N-SH	brain:	n/a	n/a
20	MAZ	chr11:10511713-10512753	Hela-S3	cervix:	n/a	chr11:10512309-10512318 chr11:10512224-10512233
21	JUN	chr11:10511460-10512809	K562	blood:	n/a	chr11:10512310-10512318 chr11:10512308-10512319 chr11:10512311-10512318 chr11:10512225-10512236 chr11:10512316-10512329 chr11:10512308-10512320 chr11:10512309-10512319 chr11:10512310-10512318 chr11:10512223-10512232
22	TCF12	chr11:10511686-10513080	SK-N-SH	brain:	n/a	n/a
23	NR2C2	chr11:10511591-10513063	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10511231..10513968-chr11:10515336..10517776,2	K562	blood:
2	chr11:10506945..10508997-chr11:10510629..10513489,3	K562	blood:

Variant related genes	Relation type
AMPD3	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv553478	chr11:10508938-10523476	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv518705	chr11:10510272-10518289	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv519987	chr11:10510272-10518977	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
2	chr11:10479800-10519400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:10484200-10514800	Weak transcription	Colonic Mucosa	Colon
4	chr11:10485000-10515200	Weak transcription	Liver	Liver
5	chr11:10486800-10515600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:10489000-10512600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:10495000-10528000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:10495200-10530800	Strong transcription	Primary T cells from cord blood	blood
9	chr11:10495400-10511800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:10495600-10516400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:10495800-10529800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:10496400-10524000	Strong transcription	Primary hematopoietic stem cells	blood
13	chr11:10496600-10529000	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr11:10498600-10514400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:10498800-10522000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:10498800-10522200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:10499000-10514600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:10499200-10513000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:10499800-10523600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:10500000-10512400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:10501400-10512000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:10501600-10550600	Weak transcription	Small Intestine	intestine
23	chr11:10501800-10512400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:10502200-10522600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:10502600-10529000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
27	chr11:10504000-10517800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:10505400-10512000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:10505400-10516200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:10507800-10544800	Weak transcription	Fetal Kidney	kidney
31	chr11:10508000-10512000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:10508000-10512200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:10508800-10514200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:10509000-10513000	Enhancers	HMEC	breast
35	chr11:10509000-10517000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:10509200-10512000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:10509200-10512200	Weak transcription	Adipose Nuclei	Adipose
38	chr11:10509200-10512400	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:10509400-10512600	Genic enhancers	Primary B cells from peripheral blood	blood
40	chr11:10509600-10511800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:10509600-10512000	Genic enhancers	Primary B cells from cord blood	blood
42	chr11:10509600-10512800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:10509600-10512800	Enhancers	Esophagus	oesophagus
44	chr11:10509600-10513000	Enhancers	Placenta	Placenta
45	chr11:10509800-10513200	Genic enhancers	Lung	lung
46	chr11:10510000-10512000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:10510000-10512400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:10510000-10513200	Genic enhancers	Spleen	Spleen
49	chr11:10510000-10514200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:10510000-10514200	Weak transcription	Fetal Stomach	stomach

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