Variant report

Variant	rs73599696
Chromosome Location	chr10:20077121-20077122
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	RAD21	chr10:20076969-20077339	ECC-1	luminal epithelium:	n/a	chr10:20077206-20077225
2	CTCF	chr10:20077120-20077270	HEEpiC	esophagus:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
3	FAM48A	chr10:20076989-20077130	GM12878	blood:	n/a	n/a
4	CTCF	chr10:20077120-20077270	HCFaa	heart:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
5	E2F4	chr10:20077049-20077376	MCF10A-Er-Src	breast:	n/a	n/a
6	CTCF	chr10:20076914-20077514	MCF-7	breast:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
7	CTCF	chr10:20077060-20077210	A549	lung:	n/a	n/a
8	CTCF	chr10:20076973-20077365	H1-hESC	embryonic stem cell:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
9	RAD21	chr10:20077033-20077296	GM12878	blood:	n/a	chr10:20077206-20077225
10	ZNF143	chr10:20077029-20077401	GM12878	blood:	n/a	n/a
11	RAD21	chr10:20076974-20077481	A549	lung:	n/a	chr10:20077206-20077225
12	RAD21	chr10:20076924-20077411	HepG2	liver:	n/a	chr10:20077206-20077225
13	CTCF	chr10:20077107-20077329	HepG2	liver:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
14	CTCF	chr10:20076859-20077628	SK-N-SH	brain:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
15	CTCF	chr10:20077120-20077270	NHEK	skin:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
16	CTCF	chr10:20077096-20077334	K562	blood:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
17	CTCF	chr10:20077101-20077355	Spleen_OC	spleen:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
18	ZNF143	chr10:20077031-20077366	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr10:20077020-20077321	SK-N-SH_RA	brain:	n/a	chr10:20077206-20077225
20	CTCF	chr10:20077089-20077276	ECC-1	luminal epithelium:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
21	CTCF	chr10:20077120-20077270	AG04450	lung:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
22	RAD21	chr10:20076940-20077382	SK-N-SH_RA	brain:	n/a	chr10:20077206-20077225
23	RAD21	chr10:20076889-20077464	MCF-7	breast:	n/a	chr10:20077206-20077225
24	CTCF	chr10:20077120-20077270	HAc	cerebellar:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
25	MAX	chr10:20077106-20077353	NB4	blood:	n/a	n/a
26	CTCF	chr10:20077120-20077270	MCF-7	breast:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
27	CTCF	chr10:20077040-20077190	WI-38	lung:	n/a	n/a
28	RAD21	chr10:20077033-20077395	Hela-S3	cervix:	n/a	chr10:20077206-20077225
29	CTCF	chr10:20077072-20077305	SK-N-SH_RA	brain:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
30	CTCF	chr10:20077060-20077210	HFF	foreskin:	n/a	n/a
31	SMC3	chr10:20077036-20077379	GM12878	blood:	n/a	n/a
32	CTCF	chr10:20077100-20077250	SAEC	small airway:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
33	RAD21	chr10:20076976-20077412	IMR90	lung:	n/a	chr10:20077206-20077225
34	RAD21	chr10:20076952-20077441	MCF-7	breast:	n/a	chr10:20077206-20077225
35	CTCF	chr10:20077071-20077363	Medullo	brain:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
36	CTCF	chr10:20077120-20077270	HVMF	connective:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
37	CTCF	chr10:20077113-20077327	Lung_OC	lung:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
38	CTCF	chr10:20077100-20077250	HRPEpiC	eye:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
39	SMC3	chr10:20077044-20077382	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr10:20077060-20077210	HAc	cerebellar:	n/a	n/a
41	TEAD4	chr10:20076990-20077452	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr10:20077060-20077210	NHLF	lung:	n/a	n/a
43	ARID3A	chr10:20077053-20077295	HepG2	liver:	n/a	chr10:20077277-20077293
44	CTCF	chr10:20077100-20077250	HUVEC	blood vessel:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
45	CTCF	chr10:20077110-20077331	LNCaP	prostate:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
46	RAD21	chr10:20077077-20077384	HepG2	liver:	n/a	chr10:20077206-20077225
47	RAD21	chr10:20076844-20077651	SK-N-SH	brain:	n/a	chr10:20077206-20077225
48	RAD21	chr10:20077036-20077362	GM12878	blood:	n/a	chr10:20077206-20077225
49	CTCF	chr10:20077090-20077328	MCF-7	breast:	n/a	chr10:20077209-20077225 chr10:20077203-20077224 chr10:20077208-20077226
50	RAD21	chr10:20076999-20077343	ECC-1	luminal epithelium:	n/a	chr10:20077206-20077225

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:19701065..19702056-chr10:20076746..20077511,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212072	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs56790888	0.94[AFR][1000 genomes]
rs56996168	0.88[AFR][1000 genomes]
rs57955952	0.90[AFR][1000 genomes]
rs59143081	0.88[AFR][1000 genomes]
rs61127305	0.94[AFR][1000 genomes]
rs61191149	0.90[AFR][1000 genomes]
rs61588436	0.90[AFR][1000 genomes]
rs7084739	0.90[AFR][1000 genomes]
rs73597616	0.92[AFR][1000 genomes]
rs73597617	0.92[AFR][1000 genomes]
rs73597618	0.88[AFR][1000 genomes]
rs73597619	0.90[AFR][1000 genomes]
rs73597622	0.88[AFR][1000 genomes]
rs73597623	0.94[AFR][1000 genomes]
rs73599697	0.88[AFR][1000 genomes]
rs73599702	0.92[AFR][1000 genomes]
rs73601604	0.92[AFR][1000 genomes]
rs73601605	0.92[AFR][1000 genomes]
rs73601610	0.90[AFR][1000 genomes]
rs73601612	0.90[AFR][1000 genomes]
rs73601614	0.90[AFR][1000 genomes]
rs73601616	0.88[AFR][1000 genomes]
rs73601618	0.90[AFR][1000 genomes]
rs7903164	0.98[AFR][1000 genomes]
rs7918855	0.83[AFR][1000 genomes]
rs7922604	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049295	chr10:19740296-20509036	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv34306	chr10:19777069-20117944	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1044794	chr10:20010269-20391329	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv540510	chr10:20010269-20391329	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1038966	chr10:20010469-20391190	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv540511	chr10:20010469-20391190	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1037055	chr10:20010469-20651965	Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv540512	chr10:20010469-20651965	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:20046200-20080800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:20073400-20077200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr10:20073400-20077600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr10:20077000-20077200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:20077000-20077200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr10:20077000-20077200	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr10:20077000-20077200	Enhancers	NHEK	skin
8	chr10:20077000-20078000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr10:20077000-20078600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr10:20077000-20078600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr10:20077000-20078800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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