Variant report

Variant	rs8015231
Chromosome Location	chr14:77769906-77769907
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	TBP	chr14:77769896-77770519	Hela-S3	cervix:	n/a	n/a
2	USF1	chr14:77769904-77770432	A549	lung:	n/a	chr14:77770142-77770153
3	MAX	chr14:77769071-77770537	A549	lung:	n/a	chr14:77769426-77769435
4	REST	chr14:77769835-77770446	A549	lung:	n/a	n/a
5	POLR2A	chr14:77769797-77770259	Hela-S3	cervix:	n/a	n/a
6	FOXM1	chr14:77769761-77770829	MCF-7	breast:	n/a	n/a
7	SIN3AK20	chr14:77769800-77770550	A549	lung:	n/a	n/a
8	SP1	chr14:77769792-77770622	HCT-116	colon:	n/a	n/a
9	POLR2A	chr14:77769262-77770289	IMR90	lung:	n/a	n/a
10	FOSL2	chr14:77768913-77770631	A549	lung:	n/a	chr14:77769426-77769436 chr14:77769427-77769435 chr14:77769426-77769437 chr14:77769426-77769436 chr14:77769427-77769435 chr14:77769423-77769434 chr14:77769426-77769436 chr14:77769426-77769436 chr14:77769428-77769435
11	JUND	chr14:77769243-77770523	HepG2	liver:	n/a	chr14:77769426-77769436 chr14:77769427-77769435 chr14:77769426-77769436 chr14:77769427-77769435 chr14:77769423-77769434 chr14:77770218-77770229 chr14:77769426-77769436 chr14:77769426-77769436 chr14:77769428-77769435
12	TCF12	chr14:77769873-77770648	SK-N-SH	brain:	n/a	n/a
13	KAP1	chr14:77769130-77770495	U2OS	brain:	n/a	chr14:77770379-77770387 chr14:77769428-77769437
14	FOSL1	chr14:77769808-77770562	HCT-116	colon:	n/a	n/a
15	JUND	chr14:77769815-77770707	MCF-7	breast:	n/a	chr14:77770218-77770229
16	ZBTB33	chr14:77769795-77770442	A549	lung:	n/a	n/a
17	POLR2A	chr14:77769889-77770506	HUVEC	blood vessel:	n/a	n/a
18	GATA3	chr14:77769008-77770874	A549	lung:	n/a	chr14:77769649-77769665 chr14:77769646-77769667 chr14:77769653-77769662
19	EP300	chr14:77769898-77770380	HepG2	liver:	n/a	n/a
20	TCF12	chr14:77769900-77770599	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr14:77769906-77770379	U87	brain:	n/a	n/a
22	FOSL2	chr14:77769886-77770523	SK-N-SH	brain:	n/a	n/a
23	SP1	chr14:77769808-77770686	A549	lung:	n/a	n/a
24	TCF12	chr14:77769042-77770618	A549	lung:	n/a	n/a
25	EP300	chr14:77769867-77770687	MCF-7	breast:	n/a	n/a
26	GATA2	chr14:77769670-77770679	HUVEC	blood vessel:	n/a	n/a
27	SIN3AK20	chr14:77769038-77770880	MCF-7	breast:	n/a	n/a
28	GATA3	chr14:77769841-77770762	SK-N-SH	brain:	n/a	n/a
29	CEBPB	chr14:77769896-77770631	MCF-7	breast:	n/a	n/a
30	USF1	chr14:77769854-77770422	A549	lung:	n/a	chr14:77770142-77770153
31	FOXA2	chr14:77769867-77770484	A549	lung:	n/a	chr14:77770383-77770395
32	BHLHE40	chr14:77769839-77770333	K562	blood:	n/a	n/a
33	USF1	chr14:77769869-77770376	A549	lung:	n/a	chr14:77770142-77770153
34	USF1	chr14:77769852-77770475	SK-N-SH	brain:	n/a	chr14:77770142-77770153
35	JUND	chr14:77769866-77770626	MCF-7	breast:	n/a	chr14:77770218-77770229
36	EP300	chr14:77769080-77770560	A549	lung:	n/a	chr14:77769426-77769435
37	EP300	chr14:77769000-77770680	A549	lung:	n/a	chr14:77769426-77769435
38	CEBPB	chr14:77769154-77770613	HCT-116	colon:	n/a	n/a
39	GATA3	chr14:77769855-77770839	SK-N-SH	brain:	n/a	n/a
40	SIN3AK20	chr14:77769185-77770710	MCF-7	breast:	n/a	n/a
41	GABPA	chr14:77769899-77770516	A549	lung:	n/a	n/a
42	SMC3	chr14:77769370-77770281	HepG2	liver:	n/a	n/a
43	POLR2A	chr14:77769357-77770127	HepG2	liver:	n/a	n/a
44	GATA3	chr14:77769160-77770831	MCF-7	breast:	n/a	chr14:77769649-77769665 chr14:77769646-77769667 chr14:77769653-77769662
45	MXI1	chr14:77769295-77770583	Hela-S3	cervix:	n/a	n/a
46	ZNF217	chr14:77769899-77771081	MCF-7	breast:	n/a	n/a
47	EP300	chr14:77769153-77770726	MCF-7	breast:	n/a	chr14:77769426-77769435
48	JUND	chr14:77769893-77770546	T-47D	breast:	n/a	chr14:77770218-77770229
49	FOXA2	chr14:77769863-77770407	A549	lung:	n/a	chr14:77770383-77770395
50	CTCF	chr14:77769840-77769990	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77493943..77495664-chr14:77769543..77772430,2	MCF-7	breast:
2	chr14:77562710..77564944-chr14:77768129..77770122,2	MCF-7	breast:
3	chr14:77493529..77496906-chr14:77768438..77773961,7	MCF-7	breast:
4	chr14:77575647..77578577-chr14:77767520..77770068,3	MCF-7	breast:
5	chr14:77646733..77650700-chr14:77767687..77771144,4	MCF-7	breast:
6	chr14:77766406..77773210-chr14:77841892..77846481,6	MCF-7	breast:
7	chr14:77563062..77564827-chr14:77768939..77770911,3	MCF-7	breast:
8	chr14:77763316..77765397-chr14:77767519..77770397,2	K562	blood:
9	chr14:77607238..77609198-chr14:77769869..77772335,2	MCF-7	breast:
10	chr14:77767650..77771138-chr14:77923006..77925950,6	MCF-7	breast:
11	chr14:77768914..77770037-chr14:77781888..77782887,4	MCF-7	breast:
12	chr14:77652279..77654027-chr14:77769352..77771008,2	MCF-7	breast:
13	chr14:77769535..77771801-chr8:102503565..102505939,2	MCF-7	breast:
14	chr14:77500013..77502065-chr14:77768592..77770680,2	MCF-7	breast:
15	chr14:77608325..77612966-chr14:77767561..77771911,6	MCF-7	breast:
16	chr14:77765577..77770355-chr14:77785292..77788769,6	K562	blood:
17	chr14:77742580..77744356-chr14:77768244..77771004,2	MCF-7	breast:
18	chr14:77767504..77771365-chr14:77923200..77926224,4	MCF-7	breast:
19	chr14:77734159..77735864-chr14:77768086..77770638,2	MCF-7	breast:

Variant related genes	Relation type
POMT2	TF binding region
ENSG00000083307	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000119669	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000259164	Chromatin interaction
ENSG00000177108	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000198894	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000100591	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1544707	0.87[YRI][hapmap]
rs2098380	0.87[YRI][hapmap]
rs8016187	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902105	chr14:77764884-77801431	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv902106	chr14:77767978-77801431	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8015231	NPC2	cis	parietal	SCAN
rs8015231	RBM25	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77739600-77775600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr14:77741800-77773600	Weak transcription	GM12878-XiMat	blood
3	chr14:77742400-77780200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:77744000-77771400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:77751400-77775600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:77751400-77786200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:77751800-77775600	Weak transcription	Thymus	Thymus
8	chr14:77752200-77775600	Weak transcription	Fetal Thymus	thymus
9	chr14:77752600-77773000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:77752600-77779200	Weak transcription	Fetal Heart	heart
11	chr14:77753600-77771800	Weak transcription	Fetal Brain Male	brain
12	chr14:77754600-77771000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:77760400-77773000	Strong transcription	Fetal Stomach	stomach
14	chr14:77762600-77772400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:77762800-77772200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:77762800-77774800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:77763400-77771200	Weak transcription	Primary B cells from cord blood	blood
18	chr14:77764000-77770000	Weak transcription	Fetal Kidney	kidney
19	chr14:77765000-77772000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:77765400-77770000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr14:77765400-77772000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:77765600-77771600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:77765600-77773200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr14:77766200-77772600	Strong transcription	Dnd41	blood
25	chr14:77766200-77772800	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:77766200-77775200	Weak transcription	Primary T cells from cord blood	blood
27	chr14:77766400-77779200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:77766800-77771600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:77767200-77772400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr14:77767600-77770000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:77767600-77770000	Enhancers	Psoas Muscle	Psoas
32	chr14:77767600-77772200	Enhancers	HSMMtube	muscle
33	chr14:77767600-77773000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr14:77767800-77773600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:77767800-77780400	Weak transcription	Colonic Mucosa	Colon
36	chr14:77768000-77770200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:77768000-77770200	Strong transcription	Left Ventricle	heart
38	chr14:77768000-77770400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:77768000-77771200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:77768000-77772200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr14:77768000-77772800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr14:77768000-77780600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr14:77768000-77780600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:77768200-77770200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:77768200-77771000	Strong transcription	Fetal Muscle Leg	muscle
46	chr14:77768200-77771000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:77768200-77771000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr14:77768200-77771800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:77768200-77772600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr14:77768400-77772000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links