Variant report

Variant	rs17498524
Chromosome Location	chr7:7951222-7951223
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	FOS	chr7:7951157-7951413	MCF10A-Er-Src	breast:	n/a	chr7:7951314-7951322 chr7:7951259-7951268 chr7:7951312-7951324 chr7:7951313-7951323
2	TEAD4	chr7:7950839-7951619	MCF-7	breast:	n/a	n/a
3	JUN	chr7:7950969-7951471	H1-hESC	embryonic stem cell:	n/a	chr7:7951314-7951322 chr7:7951259-7951268 chr7:7951312-7951324 chr7:7951313-7951323
4	SP1	chr7:7950852-7951343	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr7:7950903-7951297	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:7950856-7951250	Hela-S3	cervix:	n/a	n/a
7	FOSL2	chr7:7950889-7951534	MCF-7	breast:	n/a	chr7:7951314-7951322 chr7:7951259-7951268 chr7:7951312-7951324 chr7:7951313-7951323
8	CREB1	chr7:7950935-7951373	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr7:7950970-7951227	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr7:7950896-7951590	MCF-7	breast:	n/a	n/a
11	GATA3	chr7:7950895-7951419	T-47D	breast:	n/a	chr7:7951326-7951334
12	CEBPB	chr7:7950791-7951591	MCF-7	breast:	n/a	n/a
13	MYC	chr7:7950997-7951360	MCF10A-Er-Src	breast:	n/a	chr7:7951313-7951322
14	EP300	chr7:7950899-7951430	T-47D	breast:	n/a	n/a
15	GATA3	chr7:7950738-7951875	MCF-7	breast:	n/a	chr7:7951326-7951334
16	FOSL2	chr7:7950886-7951633	MCF-7	breast:	n/a	chr7:7951314-7951322 chr7:7951259-7951268 chr7:7951312-7951324 chr7:7951313-7951323
17	MAX	chr7:7950786-7951712	Hela-S3	cervix:	n/a	chr7:7951313-7951322
18	PBX3	chr7:7950889-7951490	SK-N-SH	brain:	n/a	n/a
19	SMC3	chr7:7950825-7951802	Hela-S3	cervix:	n/a	n/a
20	PRDM1	chr7:7950992-7951436	Hela-S3	cervix:	n/a	chr7:7951259-7951274
21	EP300	chr7:7950977-7951352	T-47D	breast:	n/a	n/a
22	GATA3	chr7:7950590-7952041	MCF-7	breast:	n/a	chr7:7951326-7951334
23	RCOR1	chr7:7950862-7952025	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr7:7951089-7951346	K562	blood:	n/a	n/a
25	JUN	chr7:7950939-7951598	Hela-S3	cervix:	n/a	chr7:7951314-7951322 chr7:7951259-7951268 chr7:7951312-7951324 chr7:7951313-7951323
26	FOS	chr7:7950903-7951659	Hela-S3	cervix:	n/a	chr7:7951314-7951322 chr7:7951259-7951268 chr7:7951312-7951324 chr7:7951313-7951323
27	FOXA1	chr7:7951024-7951357	T-47D	breast:	n/a	n/a
28	TCF7L2	chr7:7950986-7951724	Hela-S3	cervix:	n/a	chr7:7951457-7951471
29	FOSL2	chr7:7950998-7951455	SK-N-SH	brain:	n/a	chr7:7951314-7951322 chr7:7951259-7951268 chr7:7951312-7951324 chr7:7951313-7951323
30	FOXA2	chr7:7950974-7951351	HepG2	liver:	n/a	n/a
31	GATA3	chr7:7950916-7951524	A549	lung:	n/a	chr7:7951326-7951334
32	USF2	chr7:7951012-7951342	Hela-S3	cervix:	n/a	n/a
33	FOXM1	chr7:7950768-7951700	MCF-7	breast:	n/a	n/a
34	CEBPB	chr7:7950741-7951776	Hela-S3	cervix:	n/a	n/a
35	NR2F2	chr7:7950733-7951835	MCF-7	breast:	n/a	n/a
36	FOXM1	chr7:7950856-7951548	MCF-7	breast:	n/a	n/a
37	SRF	chr7:7950826-7951487	MCF-7	breast:	n/a	n/a
38	TEAD4	chr7:7950845-7951504	HepG2	liver:	n/a	n/a
39	GABPA	chr7:7950899-7951474	MCF-7	breast:	n/a	n/a
40	TEAD4	chr7:7950964-7951440	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr7:7950766-7951695	SK-N-SH	brain:	n/a	chr7:7951326-7951334
42	SIN3AK20	chr7:7950706-7951847	MCF-7	breast:	n/a	n/a
43	GATA3	chr7:7950816-7951533	T-47D	breast:	n/a	chr7:7951326-7951334
44	NFIC	chr7:7950959-7951630	SK-N-SH	brain:	n/a	n/a
45	TCF7L2	chr7:7950895-7951622	MCF-7	breast:	n/a	chr7:7951457-7951471
46	CEBPB	chr7:7951010-7951401	HepG2	liver:	n/a	n/a
47	SP1	chr7:7950938-7951312	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr7:7951037-7951237	MCF10A-Er-Src	breast:	n/a	n/a
49	JUND	chr7:7950883-7951422	SK-N-SH	brain:	n/a	chr7:7951314-7951322 chr7:7951259-7951268 chr7:7951312-7951324 chr7:7951313-7951323
50	EP300	chr7:7950843-7951529	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:7951069..7953394-chr7:7953998..7956483,2	K562	blood:
2	chr7:7947056..7948865-chr7:7950686..7953467,2	MCF-7	breast:
3	chr7:7951218..7952780-chr7:7955913..7958820,2	K562	blood:
4	chr7:7950749..7951554-chr7:8008162..8008847,3	MCF-7	breast:
5	chr7:7951059..7955946-chr7:8007279..8010658,10	MCF-7	breast:
6	chr7:7947370..7958537-chr7:8006160..8010935,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214998	TF binding region
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4725048	0.85[AMR][1000 genomes]
rs4725049	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4725050	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61741163	0.85[AMR][1000 genomes]
rs6975902	0.82[AFR][1000 genomes]
rs73045599	0.85[AMR][1000 genomes]
rs73045601	0.85[AMR][1000 genomes]
rs73047505	0.83[AMR][1000 genomes]
rs73047514	0.88[AMR][1000 genomes]
rs73047519	0.88[AMR][1000 genomes]
rs73047544	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs732052	0.95[CEU][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7785556	0.85[AMR][1000 genomes]
rs7789288	0.85[AMR][1000 genomes]
rs9690117	0.82[AFR][1000 genomes]
rs9690598	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1027770	chr7:7797431-7957507	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538722	chr7:7797431-7957507	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv464304	chr7:7913819-7970560	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv606046	chr7:7913819-7970560	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS 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	23 gene(s)	inside rSNPs	diseases
11	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv525502	chr7:7938596-7996590	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv606048	chr7:7938596-7996590	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv606049	chr7:7949059-7967424	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7935000-7951600	Weak transcription	Pancreas	Pancrea
2	chr7:7935400-7952600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:7942600-7963600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:7943000-7958800	Weak transcription	Aorta	Aorta
5	chr7:7944400-7959600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:7948600-7952800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:7948800-7951400	Enhancers	Hela-S3	cervix
8	chr7:7949200-7952600	Weak transcription	HSMM	muscle
9	chr7:7949200-7960200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:7949600-7952400	Weak transcription	HSMMtube	muscle
11	chr7:7949600-7953000	Weak transcription	Psoas Muscle	Psoas
12	chr7:7950000-7951400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:7950000-7953000	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:7950000-7953600	Weak transcription	Ovary	ovary
15	chr7:7950200-7953000	Weak transcription	Fetal Stomach	stomach
16	chr7:7950400-7954400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:7950600-7951400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:7950600-7952000	Enhancers	HMEC	breast
19	chr7:7950600-7952200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:7950600-7952400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:7950600-7952600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:7950600-7954000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:7950800-7951400	Enhancers	Fetal Heart	heart
24	chr7:7950800-7951800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:7950800-7952000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:7950800-7952000	Enhancers	HepG2	liver
27	chr7:7950800-7952000	Enhancers	NH-A	brain
28	chr7:7950800-7952000	Enhancers	Osteobl	bone
29	chr7:7950800-7952400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:7950800-7952400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:7950800-7952600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr7:7950800-7953600	Enhancers	Placenta	Placenta
33	chr7:7951000-7951800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:7951000-7952000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:7951000-7953400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:7951200-7951400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:7951200-7951400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:7951200-7951400	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links