Variant report

Variant	rs7143541
Chromosome Location	chr14:65419777-65419778
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	POLR2A	chr14:65419406-65420003	GM12891	blood:	n/a	n/a
2	POLR2A	chr14:65419289-65420054	GM12892	blood:	n/a	n/a
3	MAFK	chr14:65419731-65420013	H1-hESC	embryonic stem cell:	n/a	chr14:65419861-65419870
4	CTCF	chr14:65419706-65420088	K562	blood:	n/a	n/a
5	CTCF	chr14:65419760-65419910	BE2_C	brain:	n/a	n/a
6	CTCF	chr14:65419767-65420020	K562	blood:	n/a	n/a
7	NFIC	chr14:65419171-65419871	GM12878	blood:	n/a	n/a
8	RAD21	chr14:65419775-65420016	GM12878	blood:	n/a	n/a
9	CTCF	chr14:65419760-65419910	GM12878	blood:	n/a	n/a
10	MAFF	chr14:65419761-65420015	K562	blood:	n/a	n/a
11	CTCF	chr14:65419765-65419994	GM12891	blood:	n/a	n/a
12	CTCF	chr14:65419742-65419992	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr14:65419760-65419910	GM12871	blood:	n/a	n/a
14	CTCF	chr14:65419756-65420062	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr14:65419760-65419910	HPAF	blood vessel:	n/a	n/a
16	ZNF143	chr14:65419756-65420013	K562	blood:	n/a	n/a
17	CTCF	chr14:65419760-65419910	A549	lung:	n/a	n/a
18	CTCF	chr14:65419763-65420011	GM12878	blood:	n/a	n/a
19	HCFC1	chr14:65419735-65419926	K562	blood:	n/a	n/a
20	CTCF	chr14:65419740-65419890	HCT-116	colon:	n/a	n/a
21	EBF1	chr14:65419255-65419846	GM12878	blood:	n/a	chr14:65419512-65419523
22	JUND	chr14:65419746-65420050	H1-hESC	embryonic stem cell:	n/a	chr14:65419862-65419872 chr14:65419861-65419872 chr14:65419861-65419873 chr14:65419863-65419871 chr14:65419862-65419872
23	MAFK	chr14:65419777-65420016	K562	blood:	n/a	chr14:65419861-65419870
24	ZNF143	chr14:65419751-65420002	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr14:65419743-65420065	K562	blood:	n/a	n/a
26	CTCF	chr14:65419760-65419910	GM12873	blood:	n/a	n/a
27	PML	chr14:65419255-65419899	GM12878	blood:	n/a	n/a
28	STAT5A	chr14:65419368-65419891	GM12878	blood:	n/a	chr14:65419475-65419483
29	RAD21	chr14:65419751-65420058	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr14:65419770-65419994	GM12892	blood:	n/a	n/a
31	CTCF	chr14:65419760-65419910	AG04450	lung:	n/a	n/a
32	CTCF	chr14:65419777-65419982	GM19240	blood:	n/a	n/a
33	CTCF	chr14:65419752-65420029	GM19238	blood:	n/a	n/a
34	WRNIP1	chr14:65419726-65420093	GM12878	blood:	n/a	n/a
35	JUND	chr14:65419726-65420078	K562	blood:	n/a	chr14:65419862-65419872 chr14:65419861-65419872 chr14:65419861-65419873 chr14:65419863-65419871 chr14:65419862-65419872
36	BATF	chr14:65419688-65420008	GM12878	blood:	n/a	chr14:65419867-65419878
37	CTCF	chr14:65419760-65419910	HBMEC	blood vessel:	n/a	n/a
38	RUNX3	chr14:65419218-65420057	GM12878	blood:	n/a	n/a
39	CTCF	chr14:65419762-65420025	K562	blood:	n/a	n/a
40	MYC	chr14:65419738-65420030	K562	blood:	n/a	n/a
41	BACH1	chr14:65419761-65420037	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZMIZ1	chr14:65419770-65419799	K562	blood:	n/a	n/a
43	CTCF	chr14:65419740-65419890	AG10803	skin:	n/a	n/a
44	CTCF	chr14:65419740-65419890	GM12865	blood:	n/a	n/a
45	CTCF	chr14:65419760-65419910	HMEC	breast:	n/a	n/a
46	CTCF	chr14:65419760-65419910	HMF	breast:	n/a	n/a
47	CTCF	chr14:65419744-65420030	K562	blood:	n/a	n/a
48	RAD21	chr14:65419656-65420072	H1-hESC	embryonic stem cell:	n/a	n/a
49	RELA	chr14:65419185-65420077	GM18951	blood:	n/a	chr14:65419469-65419478 chr14:65419469-65419478
50	ZNF143	chr14:65419393-65419932	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65415735..65418064-chr14:65418807..65421614,2	MCF-7	breast:
2	chr14:65409449..65411345-chr14:65418260..65421533,3	MCF-7	breast:
3	chr14:65381002..65382739-chr14:65418604..65420355,2	MCF-7	breast:
4	chr14:65380807..65382570-chr14:65419701..65422531,2	MCF-7	breast:
5	chr14:65409026..65413439-chr14:65416032..65420633,4	MCF-7	breast:

Variant related genes	Relation type
RAB15	TF binding region
ENSG00000176153	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000258289	Chromatin interaction
ENSG00000139998	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10121	0.95[TSI][hapmap]
rs10144554	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1467569	0.91[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.81[ASN][1000 genomes]
rs1467570	0.81[ASN][1000 genomes]
rs1467571	0.80[ASN][1000 genomes]
rs1467573	0.91[CHB][hapmap];0.80[CHD][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.80[ASN][1000 genomes]
rs17102320	0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1951490	0.80[ASN][1000 genomes]
rs1951491	0.80[ASN][1000 genomes]
rs1951492	0.80[ASN][1000 genomes]
rs1951495	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1957416	0.85[TSI][hapmap]
rs1957428	0.82[ASN][1000 genomes]
rs1957429	0.82[ASN][1000 genomes]
rs1957431	0.81[ASN][1000 genomes]
rs1957432	0.91[CHB][hapmap];0.81[CHD][hapmap];0.85[TSI][hapmap];0.81[ASN][1000 genomes]
rs1957434	0.81[ASN][1000 genomes]
rs1957435	0.81[ASN][1000 genomes]
rs1957436	0.81[ASN][1000 genomes]
rs1998333	0.81[ASN][1000 genomes]
rs2104170	0.83[ASW][hapmap];0.83[MEX][hapmap]
rs2296325	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2412107	0.82[CHB][hapmap];0.84[CHD][hapmap];0.87[JPT][hapmap]
rs2884308	0.91[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs34852276	0.83[JPT][hapmap]
rs3759681	0.83[YRI][hapmap]
rs3813422	0.80[ASN][1000 genomes]
rs3813423	0.80[ASN][1000 genomes]
rs4899150	0.87[CHB][hapmap];0.81[TSI][hapmap]
rs4899155	0.83[JPT][hapmap]
rs4902325	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs4902327	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs59000318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59876171	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60979440	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6573580	0.82[CHB][hapmap]
rs6573581	0.83[CHB][hapmap]
rs6573583	0.81[ASN][1000 genomes]
rs7143661	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7144718	0.83[CHB][hapmap]
rs763346	0.83[CHB][hapmap]
rs8007405	0.83[JPT][hapmap]
rs8008745	0.91[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.81[ASN][1000 genomes]
rs8009510	0.81[ASN][1000 genomes]
rs8009996	0.91[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.81[ASN][1000 genomes]
rs8013772	0.81[ASN][1000 genomes]
rs9783609	0.81[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7143541	RAB15	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65382400-65420000	Weak transcription	Fetal Brain Male	brain
2	chr14:65393400-65422200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:65399000-65428000	Weak transcription	NHLF	lung
4	chr14:65401400-65432200	Weak transcription	HUVEC	blood vessel
5	chr14:65401600-65435000	Weak transcription	NH-A	brain
6	chr14:65406600-65438000	Weak transcription	Fetal Kidney	kidney
7	chr14:65409600-65428400	Strong transcription	Fetal Stomach	stomach
8	chr14:65410200-65425200	Weak transcription	HMEC	breast
9	chr14:65410400-65425400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:65410600-65421600	Weak transcription	Pancreas	Pancrea
11	chr14:65411000-65423200	Weak transcription	NHEK	skin
12	chr14:65411000-65437200	Weak transcription	Fetal Lung	lung
13	chr14:65411200-65425400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:65411200-65427600	Weak transcription	A549	lung
15	chr14:65411200-65435000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:65411400-65421400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:65411400-65425200	Weak transcription	Stomach Mucosa	stomach
18	chr14:65411400-65435000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:65411400-65438000	Weak transcription	Small Intestine	intestine
20	chr14:65412200-65420000	Strong transcription	Placenta	Placenta
21	chr14:65412400-65438000	Weak transcription	Brain Substantia Nigra	brain
22	chr14:65413000-65426200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr14:65413400-65419800	Strong transcription	HSMMtube	muscle
24	chr14:65413600-65419800	Strong transcription	Fetal Brain Female	brain
25	chr14:65413600-65420400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:65413600-65420600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:65413600-65421400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:65413600-65423400	Strong transcription	Thymus	Thymus
29	chr14:65414200-65422800	Strong transcription	Spleen	Spleen
30	chr14:65414800-65424000	Weak transcription	HSMM	muscle
31	chr14:65414800-65425200	Strong transcription	Primary T cells from cord blood	blood
32	chr14:65415400-65420800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:65415400-65428000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:65415400-65432400	Weak transcription	Ovary	ovary
35	chr14:65415400-65438200	Weak transcription	Aorta	Aorta
36	chr14:65415600-65427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:65415600-65437600	Weak transcription	Colonic Mucosa	Colon
38	chr14:65415800-65422000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr14:65415800-65427200	Strong transcription	Fetal Intestine Small	intestine
40	chr14:65415800-65427800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr14:65415800-65427800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:65416000-65421200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:65416000-65423400	Weak transcription	Fetal Thymus	thymus
44	chr14:65416000-65424000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:65416000-65425600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:65416000-65427400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:65416200-65421600	Weak transcription	HepG2	liver
48	chr14:65416200-65424600	Weak transcription	Primary B cells from cord blood	blood
49	chr14:65416600-65420400	Enhancers	Psoas Muscle	Psoas
50	chr14:65417000-65419800	Enhancers	Fetal Heart	heart

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