Variant report

Variant	rs7213026
Chromosome Location	chr17:59939840-59939841
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	GATA3	chr17:59938482-59942100	MCF-7	breast:	n/a	chr17:59941440-59941447 chr17:59941286-59941295 chr17:59940695-59940705
2	TBP	chr17:59939551-59941842	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr17:59939567-59941878	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr17:59939671-59940055	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr17:59938936-59941431	SK-N-SH	brain:	n/a	chr17:59941286-59941295 chr17:59940695-59940705
6	RFX5	chr17:59938285-59941998	SK-N-SH	brain:	n/a	chr17:59938788-59938796
7	E2F4	chr17:59938928-59941841	MCF10A-Er-Src	breast:	n/a	chr17:59940878-59940889 chr17:59940879-59940891 chr17:59940886-59940898 chr17:59940931-59940940
8	ZNF217	chr17:59938782-59941900	MCF-7	breast:	n/a	n/a
9	TEAD4	chr17:59939000-59941868	A549	lung:	n/a	n/a
10	STAT3	chr17:59939584-59939894	MCF10A-Er-Src	breast:	n/a	n/a
11	BRCA1	chr17:59939329-59939993	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr17:59938795-59941376	MCF10A-Er-Src	breast:	n/a	n/a
13	SRF	chr17:59938399-59942321	MCF-7	breast:	n/a	chr17:59942006-59942021 chr17:59942008-59942019 chr17:59942009-59942018 chr17:59942007-59942018 chr17:59942005-59942019 chr17:59940890-59940900 chr17:59942009-59942020 chr17:59942005-59942023 chr17:59942007-59942020 chr17:59939748-59939766 chr17:59942005-59942022 chr17:59942008-59942025
14	POLR2A	chr17:59939093-59941487	HepG2	liver:	n/a	n/a
15	POLR2A	chr17:59939257-59941574	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr17:59939619-59941403	GM12892	blood:	n/a	n/a
17	FOS	chr17:59939554-59939891	MCF10A-Er-Src	breast:	n/a	n/a
18	MAFK	chr17:59939553-59941570	K562	blood:	n/a	n/a
19	POLR2A	chr17:59939604-59941754	H1-hESC	embryonic stem cell:	n/a	n/a
20	STAT3	chr17:59939729-59939904	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr17:59939777-59941364	Raji	blood:	n/a	n/a
22	FOS	chr17:59939554-59939910	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr17:59939175-59941694	GM12878	blood:	n/a	n/a
24	MAFK	chr17:59939793-59939993	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr17:59939662-59941313	GM19099	blood:	n/a	n/a
26	POLR2A	chr17:59939300-59941661	Hela-S3	cervix:	n/a	n/a
27	GATA3	chr17:59935970-59945500	MCF-7	breast:	n/a	chr17:59941440-59941447 chr17:59941286-59941295 chr17:59940695-59940705
28	STAT3	chr17:59939572-59940404	MCF10A-Er-Src	breast:	n/a	chr17:59939997-59940005
29	NR2F2	chr17:59938354-59942307	MCF-7	breast:	n/a	n/a
30	TAL1	chr17:59939649-59941287	K562	blood:	n/a	n/a
31	MAFK	chr17:59939509-59941379	Hela-S3	cervix:	n/a	n/a
32	ZKSCAN1	chr17:59939197-59939984	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr17:59939034-59941803	GM12891	blood:	n/a	n/a
34	POLR2A	chr17:59938547-59941418	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr17:59939573-59940035	Hela-S3	cervix:	n/a	n/a
36	FOS	chr17:59939531-59939886	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr17:59939153-59939906	MCF10A-Er-Src	breast:	n/a	n/a
38	GATA3	chr17:59939409-59940384	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr17:59938095-59940506	MCF-7	breast:	n/a	n/a
40	MYC	chr17:59939634-59939840	MCF10A-Er-Src	breast:	n/a	n/a
41	SRF	chr17:59939609-59939845	HepG2	liver:	n/a	chr17:59939748-59939766
42	STAT3	chr17:59939667-59939867	MCF10A-Er-Src	breast:	n/a	n/a
43	GATA3	chr17:59939096-59941480	MCF-7	breast:	n/a	chr17:59941440-59941447 chr17:59941286-59941295 chr17:59940695-59940705
44	NR2F2	chr17:59937915-59942311	MCF-7	breast:	n/a	n/a
45	MEF2A	chr17:59939504-59941519	SK-N-SH	brain:	n/a	chr17:59941296-59941304 chr17:59940113-59940134 chr17:59940118-59940132 chr17:59940120-59940131
46	SRF	chr17:59939469-59940033	ECC-1	luminal epithelium:	n/a	chr17:59939748-59939766
47	POLR2A	chr17:59939632-59940019	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:59938126..59942484-chr20:52208111..52210732,4	MCF-7	breast:
2	chr17:59800371..59801238-chr17:59939273..59939890,4	MCF-7	breast:
3	chr17:58160448..58162938-chr17:59938931..59941632,2	MCF-7	breast:
4	chr17:59939694..59942713-chr17:60003159..60007024,4	K562	blood:
5	chr17:59939732..59941553-chr20:52198983..52200744,2	MCF-7	breast:
6	chr17:59800373..59801238-chr17:59939362..59940177,3	MCF-7	breast:
7	chr17:59938249..59942766-chr17:60140265..60145745,10	MCF-7	breast:
8	chr12:112122346..112124894-chr17:59939535..59941780,2	MCF-7	breast:
9	chr1:117602136..117603845-chr17:59938886..59941004,2	MCF-7	breast:
10	chr17:59939237..59943311-chr20:55795594..55800614,8	MCF-7	breast:
11	chr17:59936074..59944748-chr20:55835834..55847370,36	MCF-7	breast:
12	chr17:59939253..59942212-chr20:52554185..52557076,2	MCF-7	breast:
13	chr17:59938658..59940749-chr7:99004886..99006495,2	MCF-7	breast:
14	chr11:61732365..61735270-chr17:59939617..59942181,2	MCF-7	breast:
15	chr17:59939071..59942892-chr17:60002944..60006795,10	MCF-7	breast:
16	chr17:59936983..59940866-chr17:60141087..60143647,5	MCF-7	breast:
17	chr17:59929026..59944759-chr20:55831267..55853908,71	MCF-7	breast:
18	chr11:62605730..62607893-chr17:59936927..59940452,3	MCF-7	breast:
19	chr17:59476206..59478986-chr17:59937418..59941494,6	MCF-7	breast:
20	chr1:27215485..27217208-chr17:59938995..59940925,2	MCF-7	breast:
21	chr17:59939387..59941365-chr20:55678694..55681677,3	MCF-7	breast:
22	chr17:59939503..59941929-chr8:145689190..145691450,2	MCF-7	breast:
23	chr17:59800328..59801140-chr17:59939377..59940266,3	MCF-7	breast:
24	chr17:59939694..59942407-chr17:60003159..60006084,4	K562	blood:
25	chr17:56707788..56710776-chr17:59939218..59941319,2	MCF-7	breast:
26	chr17:59938976..59941909-chr17:60142630..60144812,2	K562	blood:
27	chr17:56735014..56738164-chr17:59939669..59942448,4	MCF-7	breast:
28	chr17:59939106..59942463-chr17:60003505..60006582,4	MCF-7	breast:
29	chr17:59486255..59492170-chr17:59932286..59941695,13	MCF-7	breast:
30	chr17:59939635..59943027-chr20:55797137..55799971,3	MCF-7	breast:

Variant related genes	Relation type
BRIP1	TF binding region
ENSG00000121068	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000261040	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000142751	Chromatin interaction
ENSG00000108506	Chromatin interaction
ENSG00000167996	Chromatin interaction
ENSG00000111271	Chromatin interaction
ENSG00000167702	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000187954	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000108510	Chromatin interaction
ENSG00000116830	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000236352	Chromatin interaction
ENSG00000254578	Chromatin interaction
ENSG00000231078	Chromatin interaction
ENSG00000089234	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000171940	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10401014	1.00[EUR][1000 genomes]
rs10438772	0.87[AMR][1000 genomes]
rs16945750	1.00[EUR][1000 genomes]
rs16945766	1.00[MEX][hapmap]
rs2378907	1.00[MEX][hapmap]
rs28431006	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4988342	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs58025472	1.00[EUR][1000 genomes]
rs58046635	1.00[EUR][1000 genomes]
rs59794823	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6504075	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6504076	1.00[EUR][1000 genomes]
rs6504078	1.00[EUR][1000 genomes]
rs6504080	1.00[MEX][hapmap]
rs7211128	1.00[EUR][1000 genomes]
rs7212399	1.00[EUR][1000 genomes]
rs7212824	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7212884	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7217530	1.00[EUR][1000 genomes]
rs7221827	1.00[EUR][1000 genomes]
rs7222876	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7224112	1.00[EUR][1000 genomes]
rs7226248	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73991952	1.00[EUR][1000 genomes]
rs8065060	1.00[EUR][1000 genomes]
rs8068267	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8069386	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8069903	1.00[EUR][1000 genomes]
rs8069946	1.00[EUR][1000 genomes]
rs8078342	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9783841	1.00[EUR][1000 genomes]
rs9890276	0.82[AMR][1000 genomes]
rs9892063	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9892123	1.00[EUR][1000 genomes]
rs9894718	1.00[EUR][1000 genomes]
rs9896768	1.00[EUR][1000 genomes]
rs9899042	1.00[EUR][1000 genomes]
rs9899780	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9902699	1.00[EUR][1000 genomes]
rs9903562	1.00[EUR][1000 genomes]
rs9905888	1.00[EUR][1000 genomes]
rs9909145	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9909882	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9910067	1.00[EUR][1000 genomes]
rs9910252	1.00[EUR][1000 genomes]
rs9910902	1.00[EUR][1000 genomes]
rs9913351	1.00[TSI][hapmap]
rs9914007	1.00[EUR][1000 genomes]
rs9914605	1.00[EUR][1000 genomes]
rs9915023	1.00[EUR][1000 genomes]
rs9916070	1.00[TSI][hapmap]
rs9944467	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59906200-59940200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:59912400-59940000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:59912400-59940400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:59920400-59940200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:59921600-59940000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr17:59923600-59940200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr17:59926200-59940200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr17:59932200-59940200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:59933400-59940400	Weak transcription	Pancreas	Pancrea
10	chr17:59935000-59940200	Weak transcription	Ovary	ovary
11	chr17:59937200-59940200	Weak transcription	Small Intestine	intestine
12	chr17:59937600-59940200	Weak transcription	Esophagus	oesophagus
13	chr17:59938400-59941400	Active TSS	GM12878-XiMat	blood
14	chr17:59938600-59940400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:59938600-59941400	Active TSS	Brain Germinal Matrix	brain
16	chr17:59938800-59940000	Flanking Active TSS	A549	lung
17	chr17:59938800-59940400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr17:59938800-59940600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:59938800-59940600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:59939000-59940000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:59939000-59940400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:59939000-59940400	Flanking Active TSS	HUVEC	blood vessel
23	chr17:59939000-59941600	Active TSS	H1 Cell Line	embryonic stem cell
24	chr17:59939000-59941600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:59939000-59941600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:59939200-59940000	Active TSS	Fetal Brain Female	brain
27	chr17:59939200-59940000	Enhancers	HSMM	muscle
28	chr17:59939200-59940000	Flanking Active TSS	K562	blood
29	chr17:59939200-59940200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr17:59939200-59940400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr17:59939200-59941600	Active TSS	Fetal Thymus	thymus
32	chr17:59939200-59941800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr17:59939200-59941800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr17:59939400-59940000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr17:59939400-59940200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr17:59939400-59940200	Enhancers	Liver	Liver
37	chr17:59939400-59940200	Flanking Active TSS	Osteobl	bone
38	chr17:59939400-59940400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr17:59939400-59940400	Flanking Active TSS	Fetal Heart	heart
40	chr17:59939400-59941600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:59939400-59941600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr17:59939400-59941600	Active TSS	Fetal Intestine Large	intestine
43	chr17:59939400-59941800	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr17:59939400-59941800	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr17:59939400-59941800	Active TSS	Fetal Kidney	kidney
46	chr17:59939600-59940000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:59939600-59940000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr17:59939600-59940000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr17:59939600-59940000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr17:59939600-59940000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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