Variant report

Variant	rs7151048
Chromosome Location	chr14:31890465-31890466
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	HCFC1	chr14:31888131-31890973	Hela-S3	cervix:	n/a	n/a
2	JUN	chr14:31889639-31890585	K562	blood:	n/a	n/a
3	MXI1	chr14:31888926-31890479	GM12878	blood:	n/a	n/a
4	FOXA2	chr14:31890097-31891374	HepG2	liver:	n/a	n/a
5	HEY1	chr14:31888878-31890863	HepG2	liver:	n/a	chr14:31889322-31889337 chr14:31889202-31889217 chr14:31889200-31889215
6	MAFK	chr14:31889601-31890614	HepG2	liver:	n/a	n/a
7	MAFK	chr14:31888997-31890544	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:31888350-31890652	MCF10A-Er-Src	breast:	n/a	n/a
9	RCOR1	chr14:31889154-31890620	K562	blood:	n/a	n/a
10	FOXA1	chr14:31888897-31890930	HepG2	liver:	n/a	chr14:31888939-31888951
11	HEY1	chr14:31890443-31890911	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:31888936-31891254	HepG2	liver:	n/a	n/a
13	CUX1	chr14:31889578-31890543	GM12878	blood:	n/a	n/a
14	HDAC2	chr14:31888949-31890475	MCF-7	breast:	n/a	chr14:31889103-31889112
15	MBD4	chr14:31888678-31891351	HepG2	liver:	n/a	n/a
16	ARID3A	chr14:31888898-31891391	HepG2	liver:	n/a	n/a
17	POLR2A	chr14:31889163-31890672	HepG2	liver:	n/a	n/a
18	ESRRA	chr14:31888472-31890907	GM12878	blood:	n/a	chr14:31888843-31888853 chr14:31888842-31888855 chr14:31888839-31888855 chr14:31888843-31888853
19	MXI1	chr14:31888839-31890930	IMR90	lung:	n/a	n/a
20	MAFK	chr14:31889569-31890505	IMR90	lung:	n/a	n/a
21	MAFF	chr14:31889329-31890571	HepG2	liver:	n/a	n/a
22	HNF4G	chr14:31888941-31890506	HepG2	liver:	n/a	chr14:31889337-31889352 chr14:31889338-31889351
23	POLR2A	chr14:31888943-31890851	HepG2	liver:	n/a	n/a
24	TBP	chr14:31888678-31890696	Hela-S3	cervix:	n/a	n/a
25	FOXA1	chr14:31889501-31891364	HepG2	liver:	n/a	n/a
26	TEAD4	chr14:31888847-31891431	HepG2	liver:	n/a	n/a
27	CREB1	chr14:31888946-31890484	HepG2	liver:	n/a	n/a
28	POLR2A	chr14:31889512-31890751	K562	blood:	n/a	n/a
29	MBD4	chr14:31888665-31890782	HepG2	liver:	n/a	n/a
30	FOXA2	chr14:31890375-31890905	HepG2	liver:	n/a	n/a
31	MYBL2	chr14:31888863-31891481	HepG2	liver:	n/a	n/a
32	BHLHE40	chr14:31889153-31890737	HepG2	liver:	n/a	n/a
33	ZEB1	chr14:31888807-31891503	HepG2	liver:	n/a	n/a
34	FOXA1	chr14:31888930-31890889	HepG2	liver:	n/a	chr14:31888939-31888951
35	EP300	chr14:31889654-31890532	K562	blood:	n/a	chr14:31889765-31889774 chr14:31889763-31889772 chr14:31889870-31889886 chr14:31889871-31889887
36	EP300	chr14:31888854-31890492	HepG2	liver:	n/a	chr14:31889325-31889341 chr14:31889765-31889774 chr14:31889253-31889269 chr14:31889763-31889772 chr14:31889870-31889886 chr14:31889254-31889270 chr14:31889871-31889887
37	MYC	chr14:31889052-31890529	K562	blood:	n/a	chr14:31889804-31889813 chr14:31889792-31889802
38	POLR2A	chr14:31889215-31890627	Raji	blood:	n/a	n/a
39	MYBL2	chr14:31888358-31891645	HepG2	liver:	n/a	n/a
40	NFIC	chr14:31888604-31891360	HepG2	liver:	n/a	n/a
41	TBP	chr14:31888936-31890743	HepG2	liver:	n/a	n/a
42	NFIC	chr14:31888803-31891339	HepG2	liver:	n/a	n/a
43	POLR2A	chr14:31889053-31890595	K562	blood:	n/a	n/a
44	HDAC2	chr14:31888908-31890492	HepG2	liver:	n/a	chr14:31889103-31889112

No.	Distal block	Cell Line	Cell type
1	chr14:31887818..31891601-chr14:31923594..31927929,15	K562	blood:
2	chr14:31890242..31892614-chr14:31901862..31904809,2	MCF-7	breast:
3	chr14:31889495..31890465-chr2:61698381..61699106,2	Hela-S3	cervix:
4	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:
5	chr14:31676274..31678860-chr14:31889133..31891124,4	MCF-7	breast:

Variant related genes	Relation type
HEATR5A	TF binding region
ENSG00000092148	Chromatin interaction
ENSG00000203546	Chromatin interaction
ENSG00000270820	Chromatin interaction
ENSG00000129480	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10138277	0.86[AFR][1000 genomes]
rs11628655	0.86[AFR][1000 genomes]
rs2378859	0.86[AFR][1000 genomes]
rs4981095	0.86[AFR][1000 genomes]
rs4981848	0.86[AFR][1000 genomes]
rs7160846	0.86[AFR][1000 genomes]
rs8003122	0.86[AFR][1000 genomes]
rs8016369	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31887600-31890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:31888200-31890600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:31888800-31890600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:31888800-31890600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr14:31889000-31890600	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr14:31890000-31890600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:31890000-31890600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:31890000-31890600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:31890000-31890600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr14:31890000-31890600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:31890000-31890600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:31890000-31890600	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr14:31890000-31890600	Flanking Active TSS	A549	lung
14	chr14:31890000-31890600	Flanking Active TSS	Dnd41	blood
15	chr14:31890000-31890600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr14:31890000-31890800	Flanking Active TSS	GM12878-XiMat	blood
17	chr14:31890000-31890800	Flanking Active TSS	Hela-S3	cervix
18	chr14:31890200-31890600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr14:31890200-31890800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:31890200-31891400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:31890200-31895000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:31890200-31896000	Weak transcription	Lung	lung
23	chr14:31890200-31902200	Weak transcription	Aorta	Aorta
24	chr14:31890200-31904200	Weak transcription	Right Atrium	heart
25	chr14:31890400-31890600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr14:31890400-31890600	Enhancers	Primary B cells from peripheral blood	blood
27	chr14:31890400-31890600	Enhancers	Primary T cells from cord blood	blood
28	chr14:31890400-31890600	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr14:31890400-31890600	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr14:31890400-31890600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr14:31890400-31890600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr14:31890400-31890600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:31890400-31890600	Enhancers	Brain Angular Gyrus	brain
34	chr14:31890400-31890600	Enhancers	Brain Anterior Caudate	brain
35	chr14:31890400-31890600	Enhancers	Brain Cingulate Gyrus	brain
36	chr14:31890400-31890600	Enhancers	Brain Hippocampus Middle	brain
37	chr14:31890400-31890600	Enhancers	Brain Substantia Nigra	brain
38	chr14:31890400-31890600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr14:31890400-31890600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr14:31890400-31890600	Enhancers	Fetal Heart	heart
41	chr14:31890400-31890600	Enhancers	Fetal Kidney	kidney
42	chr14:31890400-31890600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr14:31890400-31890600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr14:31890400-31890600	Active TSS	Stomach Mucosa	stomach
45	chr14:31890400-31890600	Enhancers	NHDF-Ad	bronchial
46	chr14:31890400-31890600	Enhancers	NHEK	skin
47	chr14:31890400-31890800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:31890400-31890800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr14:31890400-31890800	Enhancers	HSMM	muscle
50	chr14:31890400-31890800	Flanking Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links