Variant report

Variant	rs569232882
Chromosome Location	chr15:45750163-45750164
allele	A/G
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	CTCF	chr15:45750095-45750449	K562	blood:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
2	NFIC	chr15:45750073-45750724	SK-N-SH	brain:	n/a	n/a
3	JUND	chr15:45748194-45750692	SK-N-SH	brain:	n/a	chr15:45748929-45748938 chr15:45748992-45749004 chr15:45748993-45749003 chr15:45748993-45749003 chr15:45748993-45749002 chr15:45748993-45749003 chr15:45749399-45749408
4	RUNX3	chr15:45750110-45750614	GM12878	blood:	n/a	n/a
5	CTCF	chr15:45749651-45750449	T-47D	breast:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
6	RAD21	chr15:45749547-45750649	MCF-7	breast:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
7	JUN	chr15:45749766-45750443	K562	blood:	n/a	n/a
8	RAD21	chr15:45749550-45750498	H1-hESC	embryonic stem cell:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
9	CTCF	chr15:45750160-45750310	A549	lung:	n/a	n/a
10	CTCF	chr15:45750151-45750479	GM12878	blood:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
11	MYC	chr15:45749756-45750805	NB4	blood:	n/a	n/a
12	RAD21	chr15:45749607-45750555	GM12878	blood:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
13	CTCF	chr15:45750140-45750475	Lung_OC	lung:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
14	FOXA2	chr15:45750153-45750414	HepG2	liver:	n/a	n/a
15	RCOR1	chr15:45749756-45750498	K562	blood:	n/a	n/a
16	CUX1	chr15:45749851-45750249	GM12878	blood:	n/a	n/a
17	CTCF	chr15:45749620-45750555	MCF-7	breast:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
18	CTCF	chr15:45750140-45750290	A549	lung:	n/a	n/a
19	CTCF	chr15:45749640-45750602	A549	lung:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
20	CTCF	chr15:45749661-45751354	GM12878	blood:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45751149-45751167 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45749923-45749936 chr15:45749916-45749937 chr15:45751154-45751162
21	BHLHE40	chr15:45749801-45750479	GM12878	blood:	n/a	n/a
22	CTCF	chr15:45749694-45750521	A549	lung:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
23	CTCF	chr15:45750120-45750270	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr15:45749722-45750484	K562	blood:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
25	CTCF	chr15:45749410-45751350	IMR90	lung:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45751149-45751167 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45749923-45749936 chr15:45749916-45749937 chr15:45751154-45751162
26	GATA2	chr15:45749402-45750290	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr15:45749682-45750546	HepG2	liver:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
28	MAFK	chr15:45749560-45750780	Hela-S3	cervix:	n/a	n/a
29	SMC3	chr15:45748640-45751360	Hela-S3	cervix:	n/a	chr15:45749923-45749937 chr15:45750312-45750326 chr15:45751151-45751165
30	CTCF	chr15:45749765-45750483	ECC-1	luminal epithelium:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
31	SMC3	chr15:45749683-45751577	GM12878	blood:	n/a	chr15:45749923-45749937 chr15:45750312-45750326 chr15:45751151-45751165
32	RCOR1	chr15:45749747-45750539	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr15:45750118-45750492	T-47D	breast:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
34	RAD21	chr15:45749736-45750481	K562	blood:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
35	RAD21	chr15:45749723-45750460	A549	lung:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
36	CTCF	chr15:45750122-45750540	HUVEC	blood vessel:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
37	TEAD4	chr15:45750087-45750556	K562	blood:	n/a	n/a
38	RAD21	chr15:45750151-45750447	H1-hESC	embryonic stem cell:	n/a	chr15:45750311-45750330 chr15:45750315-45750324 chr15:45750313-45750320
39	RCOR1	chr15:45748315-45750602	IMR90	lung:	n/a	n/a
40	CTCF	chr15:45749704-45750477	H1-hESC	embryonic stem cell:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
41	GTF2F1	chr15:45749755-45750538	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr15:45750120-45750410	A549	lung:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
43	POU2F2	chr15:45750156-45750644	GM12878	blood:	n/a	chr15:45750364-45750377
44	BHLHE40	chr15:45749816-45750355	HepG2	liver:	n/a	n/a
45	ARID3A	chr15:45749772-45750771	HepG2	liver:	n/a	n/a
46	RAD21	chr15:45749490-45750544	H1-hESC	embryonic stem cell:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
47	RAD21	chr15:45749680-45750477	SK-N-SH_RA	brain:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
48	RAD21	chr15:45749691-45750477	GM12878	blood:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
49	CTCF	chr15:45750117-45750476	H1-hESC	embryonic stem cell:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
50	CTCF	chr15:45750145-45750458	A549	lung:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323

No.	Distal block	Cell Line	Cell type
1	chr15:45749404..45751481-chr15:45878948..45881186,2	K562	blood:
2	chr15:45455299..45455941-chr15:45749596..45750400,4	K562	blood:
3	chr15:45721836..45723115-chr15:45748925..45751188,14	K562	blood:
4	chr15:45471040..45471975-chr15:45749448..45750391,3	K562	blood:
5	chr15:45722040..45723226-chr15:45748321..45751272,60	MCF-7	breast:
6	chr15:45693234..45695210-chr15:45748321..45750226,2	MCF-7	breast:
7	chr15:45457607..45459113-chr15:45748789..45750442,2	K562	blood:
8	chr15:45497043..45498021-chr15:45749432..45750263,4	K562	blood:
9	chr15:45724921..45725750-chr15:45749427..45750406,2	K562	blood:
10	chr15:45722136..45723142-chr15:45749242..45750517,32	MCF-7	breast:
11	chr15:45749728..45751620-chr15:45879079..45880705,2	MCF-7	breast:
12	chr15:45749872..45750821-chr15:45905552..45906324,3	MCF-7	breast:
13	chr15:45459360..45460864-chr15:45748404..45750669,2	K562	blood:
14	chr15:45598944..45599924-chr15:45749735..45750683,4	K562	blood:

Variant related genes	Relation type
ENSG00000259354	TF binding region
ENSG00000171763	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000211519	Chromatin interaction
ENSG00000166920	Chromatin interaction
ENSG00000171766	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000260170	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1523	chr15:45749900-45783825	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45746200-45750800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr15:45746800-45750400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:45748400-45750800	Flanking Active TSS	Hela-S3	cervix
4	chr15:45748600-45750200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:45749000-45750200	Weak transcription	Pancreas	Pancrea
6	chr15:45749000-45750800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr15:45749000-45751000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:45749200-45750400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:45749200-45751000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr15:45749200-45751800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:45749200-45753200	Weak transcription	Gastric	stomach
12	chr15:45749400-45750400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:45749400-45750800	Flanking Active TSS	NH-A	brain
14	chr15:45749400-45751600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr15:45749400-45753200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:45749400-45753200	Weak transcription	Esophagus	oesophagus
17	chr15:45749400-45753200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:45749600-45750200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:45749600-45750400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr15:45749600-45750800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr15:45749800-45750200	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr15:45749800-45750200	Active TSS	Fetal Brain Female	brain
23	chr15:45749800-45750200	Flanking Active TSS	GM12878-XiMat	blood
24	chr15:45749800-45750200	Flanking Active TSS	HUVEC	blood vessel
25	chr15:45749800-45750400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr15:45749800-45750400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:45749800-45750400	Active TSS	Fetal Stomach	stomach
28	chr15:45749800-45750400	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr15:45749800-45750400	Active TSS	K562	blood
30	chr15:45749800-45750800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr15:45749800-45750800	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr15:45749800-45751200	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr15:45749800-45751200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr15:45749800-45751200	Active TSS	Ovary	ovary
35	chr15:45749800-45751200	Active TSS	Rectal Smooth Muscle	rectum
36	chr15:45749800-45751200	Active TSS	Thymus	Thymus
37	chr15:45749800-45751200	Flanking Active TSS	Dnd41	blood
38	chr15:45749800-45751400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:45749800-45751400	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr15:45749800-45751400	Active TSS	Brain Anterior Caudate	brain
41	chr15:45749800-45751400	Active TSS	Brain Hippocampus Middle	brain
42	chr15:45749800-45751400	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr15:45749800-45751400	Active TSS	Fetal Kidney	kidney
44	chr15:45749800-45751400	Active TSS	Stomach Smooth Muscle	stomach
45	chr15:45749800-45751600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:45749800-45751600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:45749800-45751600	Active TSS	Right Atrium	heart
48	chr15:45749800-45751600	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr15:45749800-45753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:45750000-45750200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell

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