Variant report

Variant	rs10135326
Chromosome Location	chr14:105955668-105955669
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	MTA3	chr14:105955611-105956751	GM12878	blood:	n/a	n/a
2	HDAC2	chr14:105955596-105958343	MCF-7	breast:	n/a	chr14:105956369-105956378
3	POLR2A	chr14:105955002-105956473	HepG2	liver:	n/a	n/a
4	CTCF	chr14:105955276-105958456	SK-N-SH	brain:	n/a	chr14:105957021-105957034 chr14:105957082-105957095 chr14:105958196-105958206 chr14:105956149-105956167 chr14:105957082-105957095 chr14:105957081-105957097 chr14:105957080-105957098 chr14:105956150-105956166
5	SMARCB1	chr14:105955101-105958128	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr14:105955407-105955756	GM12878	blood:	n/a	n/a
7	RCOR1	chr14:105955425-105958051	IMR90	lung:	n/a	n/a
8	POLR2A	chr14:105955556-105960276	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:105955562-105955817	A549	lung:	n/a	n/a
10	POLR2A	chr14:105954883-105960284	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:105953327-105958531	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:105954948-105958403	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:105953388-105958117	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr14:105954766-105958183	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr14:105954949-105958196	Raji	blood:	n/a	n/a
16	MAX	chr14:105955269-105958460	MCF-7	breast:	n/a	chr14:105956369-105956378 chr14:105958054-105958064 chr14:105956233-105956242
17	POLR2A	chr14:105954776-105955693	K562	blood:	n/a	n/a
18	POLR2A	chr14:105955476-105957888	GM12878	blood:	n/a	n/a
19	ZBTB7A	chr14:105955220-105957290	ECC-1	luminal epithelium:	n/a	chr14:105957211-105957218
20	POLR2A	chr14:105955600-105955804	MCF-7	breast:	n/a	n/a
21	PBX3	chr14:105955512-105957921	A549	lung:	n/a	n/a
22	POLR2A	chr14:105954827-105958135	A549	lung:	n/a	n/a
23	POLR2A	chr14:105955661-105958635	SK-N-MC	brain:	n/a	n/a
24	MAX	chr14:105955422-105958255	A549	lung:	n/a	chr14:105956369-105956378 chr14:105958054-105958064 chr14:105956233-105956242
25	POLR2A	chr14:105955523-105955736	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr14:105954737-105958092	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr14:105953117-105960278	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr14:105953342-105958764	HepG2	liver:	n/a	n/a
29	ELF1	chr14:105955445-105959009	MCF-7	breast:	n/a	chr14:105956843-105956855 chr14:105956928-105956937 chr14:105956742-105956751 chr14:105956854-105956866 chr14:105957069-105957081 chr14:105956972-105956984
30	POLR2A	chr14:105955516-105955894	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr14:105953119-105958678	Hela-S3	cervix:	n/a	n/a
32	TCF12	chr14:105955471-105958622	A549	lung:	n/a	chr14:105956154-105956161
33	PBX3	chr14:105955520-105957762	A549	lung:	n/a	n/a
34	ZBTB7A	chr14:105955633-105957398	ECC-1	luminal epithelium:	n/a	chr14:105957211-105957218
35	EP300	chr14:105955643-105956733	ECC-1	luminal epithelium:	n/a	n/a
36	MXI1	chr14:105955585-105958724	SK-N-SH	brain:	n/a	n/a
37	NR2F2	chr14:105953643-105958688	MCF-7	breast:	n/a	n/a
38	SMC3	chr14:105955502-105958062	SK-N-SH	brain:	n/a	chr14:105957082-105957096 chr14:105957082-105957092 chr14:105956151-105956165 chr14:105957031-105957041
39	POLR2A	chr14:105955035-105958412	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr14:105955519-105958372	HCT-116	colon:	n/a	n/a
41	POLR2A	chr14:105955567-105955763	A549	lung:	n/a	n/a
42	POLR2A	chr14:105953151-105960167	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr14:105955643-105958118	K562	blood:	n/a	n/a
44	TFAP2C	chr14:105955287-105958366	Hela-S3	cervix:	n/a	chr14:105957766-105957781

No.	Distal block	Cell Line	Cell type
1	chr14:105955528..105957871-chr14:105992039..105994502,3	K562	blood:
2	chr14:105863162..105866503-chr14:105955373..105958550,4	MCF-7	breast:
3	chr14:105862822..105868581-chr14:105954164..105958464,7	MCF-7	breast:
4	chr14:105766350..105771356-chr14:105955110..105959126,6	MCF-7	breast:
5	chr14:105950410..105961012-chr14:105989009..105997120,20	MCF-7	breast:
6	chr11:64544950..64545680-chr14:105955369..105956251,2	Hela-S3	cervix:
7	chr14:105955528..105958204-chr14:105991803..105994725,5	K562	blood:
8	chr14:105765913..105767563-chr14:105954548..105956473,2	MCF-7	breast:
9	chr14:105878253..105887592-chr14:105952988..105961277,12	MCF-7	breast:
10	chr14:105833869..105838890-chr14:105955015..105958603,6	MCF-7	breast:
11	chr14:105839124..105843630-chr14:105955152..105959090,9	MCF-7	breast:
12	chr14:105950525..105959761-chr14:105989345..105997494,25	MCF-7	breast:
13	chr14:105486944..105489300-chr14:105953502..105956286,2	MCF-7	breast:
14	chr14:105936218..105937759-chr14:105953901..105956175,2	K562	blood:
15	chr14:105779526..105781902-chr14:105955293..105957927,2	MCF-7	breast:
16	chr14:105884344..105887645-chr14:105955564..105958862,3	K562	blood:
17	chr14:105853760..105856019-chr14:105954695..105956610,2	MCF-7	breast:
18	chr14:105886174..105888891-chr14:105953847..105956104,2	MCF-7	breast:
19	chr14:105955045..105955930-chr17:8076446..8077006,2	Hela-S3	cervix:

Variant related genes	Relation type
C14orf80	TF binding region
ENSG00000200463	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000251602	Chromatin interaction
ENSG00000184986	Chromatin interaction
ENSG00000226174	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000242085	Chromatin interaction
ENSG00000257270	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000170779	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10138891	0.85[AMR][1000 genomes]
rs11160845	0.85[AMR][1000 genomes]
rs12323571	0.85[AMR][1000 genomes]
rs4983419	0.88[MKK][hapmap];0.83[YRI][hapmap]
rs4983422	0.85[AMR][1000 genomes]
rs4983423	0.85[AMR][1000 genomes]
rs7140395	0.85[AMR][1000 genomes]
rs7157974	1.00[MEX][hapmap]
rs7158977	0.85[AMR][1000 genomes]
rs73362069	0.85[AMR][1000 genomes]
rs8012089	0.85[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105952200-105956800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr14:105952600-105956800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr14:105952600-105957200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr14:105953400-105956200	Enhancers	Liver	Liver
5	chr14:105953800-105956200	Weak transcription	Ovary	ovary
6	chr14:105954000-105956000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr14:105954000-105956400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr14:105954200-105956000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:105954200-105956000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:105954200-105956000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr14:105954200-105956000	Flanking Active TSS	HepG2	liver
12	chr14:105954200-105956200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr14:105954200-105956400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr14:105954200-105956400	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr14:105954200-105956400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr14:105954400-105955800	Weak transcription	Psoas Muscle	Psoas
17	chr14:105954400-105956000	Enhancers	Primary hematopoietic stem cells	blood
18	chr14:105954400-105956200	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr14:105954400-105957000	Flanking Active TSS	Colonic Mucosa	Colon
20	chr14:105954600-105955800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr14:105954600-105955800	Weak transcription	Brain Substantia Nigra	brain
22	chr14:105954600-105955800	Enhancers	Fetal Intestine Large	intestine
23	chr14:105954600-105955800	Genic enhancers	Fetal Intestine Small	intestine
24	chr14:105954600-105956200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:105954600-105956200	Enhancers	Gastric	stomach
26	chr14:105954600-105956200	Enhancers	Left Ventricle	heart
27	chr14:105954600-105956200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr14:105954600-105956200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr14:105954600-105956400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr14:105954600-105958200	Active TSS	Right Atrium	heart
31	chr14:105954800-105955800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:105954800-105956000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:105954800-105956000	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:105954800-105956000	Flanking Active TSS	GM12878-XiMat	blood
35	chr14:105954800-105956000	Flanking Active TSS	Hela-S3	cervix
36	chr14:105954800-105956200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr14:105954800-105956200	Enhancers	Small Intestine	intestine
38	chr14:105954800-105956800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:105955000-105955800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:105955000-105955800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:105955000-105955800	Enhancers	Brain Anterior Caudate	brain
42	chr14:105955000-105955800	Enhancers	Esophagus	oesophagus
43	chr14:105955000-105956000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr14:105955000-105956000	Flanking Active TSS	HSMMtube	muscle
45	chr14:105955000-105956200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:105955000-105956200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr14:105955000-105956200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr14:105955000-105956200	Enhancers	Fetal Lung	lung
49	chr14:105955000-105956200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr14:105955000-105956200	Enhancers	Lung	lung

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