Variant report

Variant	rs7212884
Chromosome Location	chr17:59939798-59939799
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	GATA3	chr17:59938941-59939830	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr17:59939619-59941403	GM12892	blood:	n/a	n/a
18	FOS	chr17:59939554-59939891	MCF10A-Er-Src	breast:	n/a	n/a
19	MAFK	chr17:59939553-59941570	K562	blood:	n/a	n/a
20	POLR2A	chr17:59939604-59941754	H1-hESC	embryonic stem cell:	n/a	n/a
21	STAT3	chr17:59939729-59939904	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr17:59939777-59941364	Raji	blood:	n/a	n/a
23	FOS	chr17:59939554-59939910	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr17:59939175-59941694	GM12878	blood:	n/a	n/a
25	MAFK	chr17:59939793-59939993	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr17:59939662-59941313	GM19099	blood:	n/a	n/a
27	POLR2A	chr17:59939300-59941661	Hela-S3	cervix:	n/a	n/a
28	GATA3	chr17:59935970-59945500	MCF-7	breast:	n/a	chr17:59941440-59941447 chr17:59941286-59941295 chr17:59940695-59940705
29	STAT3	chr17:59939572-59940404	MCF10A-Er-Src	breast:	n/a	chr17:59939997-59940005
30	NR2F2	chr17:59938354-59942307	MCF-7	breast:	n/a	n/a
31	TAL1	chr17:59939649-59941287	K562	blood:	n/a	n/a
32	MAFK	chr17:59939509-59941379	Hela-S3	cervix:	n/a	n/a
33	ZKSCAN1	chr17:59939197-59939984	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr17:59939034-59941803	GM12891	blood:	n/a	n/a
35	POLR2A	chr17:59938547-59941418	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr17:59939573-59940035	Hela-S3	cervix:	n/a	n/a
37	FOS	chr17:59939531-59939886	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr17:59939153-59939906	MCF10A-Er-Src	breast:	n/a	n/a
39	GATA3	chr17:59939409-59940384	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr17:59938095-59940506	MCF-7	breast:	n/a	n/a
41	MYC	chr17:59939634-59939840	MCF10A-Er-Src	breast:	n/a	n/a
42	SRF	chr17:59939609-59939845	HepG2	liver:	n/a	chr17:59939748-59939766
43	STAT3	chr17:59939667-59939867	MCF10A-Er-Src	breast:	n/a	n/a
44	GATA3	chr17:59939096-59941480	MCF-7	breast:	n/a	chr17:59941440-59941447 chr17:59941286-59941295 chr17:59940695-59940705
45	NR2F2	chr17:59937915-59942311	MCF-7	breast:	n/a	n/a
46	MEF2A	chr17:59939504-59941519	SK-N-SH	brain:	n/a	chr17:59941296-59941304 chr17:59940113-59940134 chr17:59940118-59940132 chr17:59940120-59940131
47	SRF	chr17:59939469-59940033	ECC-1	luminal epithelium:	n/a	chr17:59939748-59939766
48	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
ENSG00000187954	Chromatin interaction
ENSG00000142751	Chromatin interaction
ENSG00000089234	Chromatin interaction
ENSG00000254578	Chromatin interaction
ENSG00000231078	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000261040	Chromatin interaction
ENSG00000167702	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000116830	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000236352	Chromatin interaction
ENSG00000108506	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000111271	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000167996	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000108510	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	0.84[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]
rs7213026	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59898800-59939800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:59906200-59940200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:59912200-59939800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:59912400-59940000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:59912400-59940400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:59920400-59940200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:59921200-59939800	Weak transcription	Thymus	Thymus
8	chr17:59921600-59940000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:59923200-59939800	Weak transcription	Fetal Muscle Leg	muscle
10	chr17:59923600-59940200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr17:59926200-59940200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr17:59931600-59939800	Weak transcription	Primary B cells from cord blood	blood
13	chr17:59932200-59940200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:59933400-59940400	Weak transcription	Pancreas	Pancrea
15	chr17:59935000-59940200	Weak transcription	Ovary	ovary
16	chr17:59937000-59939800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr17:59937200-59940200	Weak transcription	Small Intestine	intestine
18	chr17:59937600-59940200	Weak transcription	Esophagus	oesophagus
19	chr17:59938400-59939800	Flanking Active TSS	NHLF	lung
20	chr17:59938400-59941400	Active TSS	GM12878-XiMat	blood
21	chr17:59938600-59939800	Enhancers	Fetal Lung	lung
22	chr17:59938600-59940400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:59938600-59941400	Active TSS	Brain Germinal Matrix	brain
24	chr17:59938800-59939800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:59938800-59939800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr17:59938800-59939800	Flanking Active TSS	HepG2	liver
27	chr17:59938800-59940000	Flanking Active TSS	A549	lung
28	chr17:59938800-59940400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr17:59938800-59940600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:59938800-59940600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:59939000-59939800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr17:59939000-59939800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:59939000-59939800	Enhancers	Primary T cells from cord blood	blood
34	chr17:59939000-59939800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:59939000-59939800	Flanking Active TSS	NHDF-Ad	bronchial
36	chr17:59939000-59939800	Flanking Active TSS	NHEK	skin
37	chr17:59939000-59940000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:59939000-59940400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr17:59939000-59940400	Flanking Active TSS	HUVEC	blood vessel
40	chr17:59939000-59941600	Active TSS	H1 Cell Line	embryonic stem cell
41	chr17:59939000-59941600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:59939000-59941600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:59939200-59939800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr17:59939200-59939800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr17:59939200-59939800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr17:59939200-59939800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:59939200-59939800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr17:59939200-59940000	Active TSS	Fetal Brain Female	brain
49	chr17:59939200-59940000	Enhancers	HSMM	muscle
50	chr17:59939200-59940000	Flanking Active TSS	K562	blood

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