Variant report

Variant	rs28533242
Chromosome Location	chr17:37780046-37780047
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	EP300	chr17:37779954-37780149	GM12878	blood:	n/a	n/a
2	SMC3	chr17:37779701-37780058	K562	blood:	n/a	chr17:37779852-37779866 chr17:37779852-37779862
3	BRCA1	chr17:37779819-37780048	HepG2	liver:	n/a	n/a
4	NRF1	chr17:37779748-37780060	GM12878	blood:	n/a	n/a
5	CTCF	chr17:37779637-37780066	K562	blood:	n/a	chr17:37779850-37779868 chr17:37779852-37779865 chr17:37779851-37779867 chr17:37779845-37779866
6	RAD21	chr17:37779675-37780076	A549	lung:	n/a	chr17:37779820-37779834 chr17:37779850-37779862 chr17:37779852-37779866 chr17:37779848-37779867
7	CTCF	chr17:37779609-37780053	K562	blood:	n/a	chr17:37779850-37779868 chr17:37779852-37779865 chr17:37779851-37779867 chr17:37779845-37779866
8	POLR2A	chr17:37779337-37780207	K562	blood:	n/a	n/a
9	CTCF	chr17:37779630-37780065	IMR90	lung:	n/a	chr17:37779850-37779868 chr17:37779852-37779865 chr17:37779851-37779867 chr17:37779845-37779866
10	POLR2A	chr17:37780016-37780079	HUVEC	blood vessel:	n/a	n/a
11	SMC3	chr17:37779643-37780098	GM12878	blood:	n/a	chr17:37779852-37779866 chr17:37779852-37779862
12	JUND	chr17:37779631-37780065	A549	lung:	n/a	n/a
13	HEY1	chr17:37779657-37780144	K562	blood:	n/a	n/a
14	RAD21	chr17:37779626-37780152	A549	lung:	n/a	chr17:37779820-37779834 chr17:37779850-37779862 chr17:37779852-37779866 chr17:37779848-37779867
15	CTCF	chr17:37777426-37780368	A549	lung:	n/a	chr17:37777636-37777645 chr17:37779850-37779868 chr17:37779852-37779865 chr17:37779851-37779867 chr17:37779845-37779866
16	POLR2A	chr17:37779614-37780113	GM12891	blood:	n/a	n/a
17	MAZ	chr17:37779656-37780078	K562	blood:	n/a	n/a
18	RAD21	chr17:37779645-37780056	H1-hESC	embryonic stem cell:	n/a	chr17:37779820-37779834 chr17:37779850-37779862 chr17:37779852-37779866 chr17:37779848-37779867
19	ZNF143	chr17:37779665-37780051	GM12878	blood:	n/a	n/a
20	CHD1	chr17:37779189-37780165	IMR90	lung:	n/a	n/a
21	CTCF	chr17:37779574-37780126	MCF-7	breast:	n/a	chr17:37779850-37779868 chr17:37779852-37779865 chr17:37779851-37779867 chr17:37779845-37779866
22	TBP	chr17:37779898-37780254	K562	blood:	n/a	n/a
23	RAD21	chr17:37779522-37780149	ECC-1	luminal epithelium:	n/a	chr17:37779820-37779834 chr17:37779850-37779862 chr17:37779852-37779866 chr17:37779848-37779867
24	RAD21	chr17:37779496-37780341	HCT-116	colon:	n/a	chr17:37779820-37779834 chr17:37779850-37779862 chr17:37779852-37779866 chr17:37779848-37779867
25	HEY1	chr17:37779292-37780270	K562	blood:	n/a	n/a
26	TAF7	chr17:37779785-37780136	K562	blood:	n/a	n/a
27	POLR2A	chr17:37779617-37780097	Hela-S3	cervix:	n/a	n/a
28	BCL3	chr17:37779519-37780047	A549	lung:	n/a	chr17:37779578-37779587
29	RAD21	chr17:37779640-37780088	HepG2	liver:	n/a	chr17:37779820-37779834 chr17:37779850-37779862 chr17:37779852-37779866 chr17:37779848-37779867
30	REST	chr17:37779688-37780060	PFSK-1	brain:	n/a	n/a
31	CTCF	chr17:37779662-37780049	HepG2	liver:	n/a	chr17:37779850-37779868 chr17:37779852-37779865 chr17:37779851-37779867 chr17:37779845-37779866
32	POLR2A	chr17:37779373-37780227	K562	blood:	n/a	n/a
33	PML	chr17:37779605-37780206	K562	blood:	n/a	n/a
34	ZNF263	chr17:37779510-37780300	HEK293-T-REx	kidney:	n/a	chr17:37780132-37780141
35	CTCF	chr17:37779629-37780052	A549	lung:	n/a	chr17:37779850-37779868 chr17:37779852-37779865 chr17:37779851-37779867 chr17:37779845-37779866
36	MTA3	chr17:37779315-37780113	GM12878	blood:	n/a	n/a
37	SMC3	chr17:37779617-37780336	SK-N-SH	brain:	n/a	chr17:37779852-37779866 chr17:37779852-37779862
38	GTF2F1	chr17:37780019-37780217	K562	blood:	n/a	n/a
39	CTCF	chr17:37779586-37780088	GM12878	blood:	n/a	chr17:37779850-37779868 chr17:37779852-37779865 chr17:37779851-37779867 chr17:37779845-37779866
40	RAD21	chr17:37779445-37780268	HCT-116	colon:	n/a	chr17:37779820-37779834 chr17:37779850-37779862 chr17:37779852-37779866 chr17:37779848-37779867
41	SMC3	chr17:37779714-37780052	HepG2	liver:	n/a	chr17:37779852-37779866 chr17:37779852-37779862
42	CTCF	chr17:37779524-37780219	HCT-116	colon:	n/a	chr17:37779850-37779868 chr17:37779852-37779865 chr17:37779851-37779867 chr17:37779845-37779866
43	RAD21	chr17:37779584-37780076	ECC-1	luminal epithelium:	n/a	chr17:37779820-37779834 chr17:37779850-37779862 chr17:37779852-37779866 chr17:37779848-37779867
44	CTCF	chr17:37779635-37780065	H1-hESC	embryonic stem cell:	n/a	chr17:37779850-37779868 chr17:37779852-37779865 chr17:37779851-37779867 chr17:37779845-37779866
45	ZMIZ1	chr17:37779750-37780160	K562	blood:	n/a	n/a
46	CTCF	chr17:37780020-37780170	GM12866	blood:	n/a	n/a
47	RAD21	chr17:37779515-37780150	H1-hESC	embryonic stem cell:	n/a	chr17:37779820-37779834 chr17:37779850-37779862 chr17:37779852-37779866 chr17:37779848-37779867
48	POLR2A	chr17:37779390-37780215	K562	blood:	n/a	n/a
49	NR2F2	chr17:37779465-37780062	MCF-7	breast:	n/a	n/a
50	CTCF	chr17:37779612-37780053	A549	lung:	n/a	chr17:37779850-37779868 chr17:37779852-37779865 chr17:37779851-37779867 chr17:37779845-37779866

No.	Distal block	Cell Line	Cell type
1	chr17:37776626..37780124-chr17:37818606..37821377,4	K562	blood:
2	chr17:37703730..37705624-chr17:37777887..37780361,14	K562	blood:
3	chr17:37777309..37780105-chr17:37909118..37911531,3	MCF-7	breast:
4	chr17:37777123..37780362-chr17:37909816..37911514,36	K562	blood:
5	chr17:37777435..37780800-chr17:37803920..37808668,4	K562	blood:
6	chr17:37704896..37707478-chr17:37777687..37780191,2	MCF-7	breast:
7	chr17:37779913..37781548-chr17:37921179..37923723,2	MCF-7	breast:
8	chr17:37773997..37776613-chr17:37779619..37781489,3	MCF-7	breast:
9	chr17:37703620..37705488-chr17:37779313..37780378,12	MCF-7	breast:
10	chr17:37732171..37732825-chr17:37779402..37780361,2	K562	blood:
11	chr17:37777756..37783081-chr17:37819129..37825010,9	K562	blood:
12	chr17:37776845..37781693-chr17:37790426..37796554,9	K562	blood:
13	chr17:37769208..37773729-chr17:37777189..37781252,6	K562	blood:
14	chr17:37778539..37780288-chr17:37893179..37895344,2	K562	blood:
15	chr17:37779395..37780335-chr17:37811349..37811933,2	K562	blood:
16	chr17:37778774..37780358-chr17:37893179..37896235,3	K562	blood:
17	chr17:37778202..37782049-chr17:37783082..37786622,6	K562	blood:
18	chr17:37778310..37780085-chr17:37905969..37908685,2	K562	blood:
19	chr17:37779838..37780411-chr17:37790377..37790904,2	K562	blood:
20	chr17:37775807..37781695-chr17:37822673..37828377,10	K562	blood:

Variant related genes	Relation type
PPP1R1B	TF binding region
ENSG00000214546	Chromatin interaction
ENSG00000173991	Chromatin interaction
ENSG00000167258	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000131771	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1877032	0.83[EUR][1000 genomes]
rs55942935	0.86[EUR][1000 genomes]
rs66482609	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72827166	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9892853	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9899652	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9899653	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9907501	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
3	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	nsv908208	chr17:37749259-37781849	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv908209	chr17:37749259-37790340	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv908210	chr17:37761202-37781849	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv908211	chr17:37765047-37782410	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv908212	chr17:37765047-37790340	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37775000-37782400	Weak transcription	Gastric	stomach
2	chr17:37775200-37781200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:37775200-37782600	Weak transcription	Lung	lung
4	chr17:37775200-37782800	Weak transcription	Right Atrium	heart
5	chr17:37775400-37782800	Weak transcription	Right Ventricle	heart
6	chr17:37777200-37781200	Enhancers	Fetal Brain Male	brain
7	chr17:37777400-37780200	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr17:37777800-37780200	Enhancers	Primary B cells from peripheral blood	blood
9	chr17:37777800-37780400	Enhancers	Primary B cells from cord blood	blood
10	chr17:37778000-37780200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr17:37778000-37780200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr17:37778000-37780200	Enhancers	Adipose Nuclei	Adipose
13	chr17:37778000-37780200	Enhancers	Fetal Intestine Small	intestine
14	chr17:37778000-37780400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:37778200-37780200	Enhancers	Brain Germinal Matrix	brain
16	chr17:37778200-37780200	Enhancers	Dnd41	blood
17	chr17:37778400-37780200	Enhancers	Brain Anterior Caudate	brain
18	chr17:37778400-37780200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr17:37778400-37780200	Enhancers	Stomach Mucosa	stomach
20	chr17:37778400-37780400	Enhancers	Esophagus	oesophagus
21	chr17:37778400-37782600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr17:37778600-37780200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:37778800-37780200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:37778800-37780200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr17:37778800-37780200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr17:37778800-37780200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr17:37778800-37780200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr17:37778800-37780200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr17:37778800-37780200	Enhancers	GM12878-XiMat	blood
30	chr17:37778800-37780400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr17:37778800-37780400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:37778800-37780400	Enhancers	Fetal Brain Female	brain
33	chr17:37778800-37781400	Enhancers	Duodenum Mucosa	Duodenum
34	chr17:37778800-37781800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr17:37778800-37782400	Enhancers	A549	lung
36	chr17:37778800-37790600	Weak transcription	K562	blood
37	chr17:37779000-37780200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr17:37779200-37780200	Enhancers	Primary T cells from cord blood	blood
39	chr17:37779200-37782200	Enhancers	Fetal Lung	lung
40	chr17:37779400-37780400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr17:37779400-37780400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:37779400-37780400	Bivalent Enhancer	HepG2	liver
43	chr17:37779400-37780400	Enhancers	NHEK	skin
44	chr17:37779400-37781000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr17:37779400-37781000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:37779600-37780200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
47	chr17:37779600-37780200	Enhancers	Fetal Intestine Large	intestine
48	chr17:37779600-37780200	Enhancers	Ovary	ovary
49	chr17:37779600-37780400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr17:37779600-37780400	Enhancers	Spleen	Spleen

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