Variant report

Variant	rs545384966
Chromosome Location	chr18:9612556-9612557
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	MYC	chr18:9612174-9612600	MCF10A-Er-Src	breast:	n/a	n/a
2	SMC3	chr18:9612215-9612589	GM12878	blood:	n/a	chr18:9612401-9612415
3	RAD21	chr18:9612241-9612582	H1-hESC	embryonic stem cell:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
4	RAD21	chr18:9612174-9612705	A549	lung:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
5	FOXA1	chr18:9612108-9612580	HepG2	liver:	n/a	n/a
6	CTCF	chr18:9612206-9612590	A549	lung:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
7	FOS	chr18:9612435-9612564	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr18:9612221-9612609	MCF-7	breast:	n/a	n/a
9	RAD21	chr18:9612129-9612579	HepG2	liver:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
10	CTCF	chr18:9612012-9612769	A549	lung:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
11	RAD21	chr18:9612249-9612586	GM12878	blood:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
12	MXI1	chr18:9611932-9615928	SK-N-SH	brain:	n/a	n/a
13	RAD21	chr18:9612249-9612565	GM12878	blood:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
14	MXI1	chr18:9612318-9612569	HepG2	liver:	n/a	n/a
15	CTCF	chr18:9612222-9612674	K562	blood:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
16	RAD21	chr18:9612021-9612797	HCT-116	colon:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
17	ZNF384	chr18:9612503-9612577	GM12878	blood:	n/a	n/a
18	FOS	chr18:9612250-9612566	MCF10A-Er-Src	breast:	n/a	n/a
19	RAD21	chr18:9612147-9612627	H1-hESC	embryonic stem cell:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
20	SP1	chr18:9612189-9612631	A549	lung:	n/a	n/a
21	CTCF	chr18:9612209-9612661	HepG2	liver:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
22	ZNF143	chr18:9612263-9612573	K562	blood:	n/a	n/a
23	POLR2A	chr18:9612160-9616803	MCF10A-Er-Src	breast:	n/a	n/a
24	RAD21	chr18:9612139-9612650	MCF-7	breast:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
25	RAD21	chr18:9612216-9612595	SK-N-SH_RA	brain:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
26	RAD21	chr18:9612194-9612638	IMR90	lung:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
27	RAD21	chr18:9612207-9612614	Hela-S3	cervix:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
28	RAD21	chr18:9612141-9612657	ECC-1	luminal epithelium:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
29	CTCF	chr18:9612109-9612622	HCT-116	colon:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
30	RAD21	chr18:9612219-9612629	HepG2	liver:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
31	STAT3	chr18:9612263-9612559	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr18:9612067-9612599	Hela-S3	cervix:	n/a	n/a
33	RAD21	chr18:9612030-9612814	SK-N-SH	brain:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
34	SMC3	chr18:9612191-9612568	HepG2	liver:	n/a	chr18:9612401-9612415
35	CEBPB	chr18:9612273-9612616	A549	lung:	n/a	n/a
36	CTCF	chr18:9611977-9612956	SK-N-SH	brain:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
37	RAD21	chr18:9612105-9612733	HCT-116	colon:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
38	RAD21	chr18:9612133-9612681	A549	lung:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
39	CTCF	chr18:9612236-9612560	A549	lung:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
40	ZNF143	chr18:9612239-9612570	GM12878	blood:	n/a	n/a
41	RAD21	chr18:9612209-9612639	ECC-1	luminal epithelium:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
42	RFX5	chr18:9612231-9612561	Hela-S3	cervix:	n/a	n/a
43	FOXA1	chr18:9612157-9612592	HepG2	liver:	n/a	n/a
44	EBF1	chr18:9612204-9612567	GM12878	blood:	n/a	n/a
45	CTCF	chr18:9612206-9612720	HCT-116	colon:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
46	RAD21	chr18:9612148-9612727	MCF-7	breast:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
47	ZNF143	chr18:9612275-9612557	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr18:9612277-9612596	A549	lung:	n/a	n/a
49	CTCF	chr18:9612162-9612674	MCF-7	breast:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
50	SMC3	chr18:9612009-9613284	SK-N-SH	brain:	n/a	chr18:9612401-9612415

No.	Distal block	Cell Line	Cell type
1	chr18:9612136..9615353-chr18:9912435..9915971,5	MCF-7	breast:
2	chr18:9612064..9613483-chr18:9661140..9662203,5	MCF-7	breast:
3	chr18:9575298..9576117-chr18:9611923..9612878,3	MCF-7	breast:
4	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:
5	chr18:9612231..9612794-chr18:9683319..9684221,2	MCF-7	breast:
6	chr18:9612544..9617098-chr18:9708301..9712595,6	MCF-7	breast:
7	chr18:9569658..9574401-chr18:9612462..9616455,5	K562	blood:
8	chr18:9612320..9612866-chr18:9673221..9674104,3	MCF-7	breast:
9	chr18:9610247..9612763-chr18:9683592..9685519,2	K562	blood:

Variant related genes	Relation type
ENSG00000263627	TF binding region
ENSG00000154845	Chromatin interaction
ENSG00000101558	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000272799	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv1836290	chr18:9611497-9614851	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:9594200-9613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:9597400-9613200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:9598000-9612600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:9607200-9613400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr18:9608200-9613600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr18:9609400-9612600	Weak transcription	Brain Angular Gyrus	brain
8	chr18:9609400-9612800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr18:9609400-9613600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr18:9609600-9612600	Weak transcription	Primary T cells from cord blood	blood
11	chr18:9609600-9613000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr18:9609600-9613200	Weak transcription	Thymus	Thymus
13	chr18:9609600-9613400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr18:9609800-9613000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:9611200-9612800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr18:9611200-9613400	Weak transcription	Pancreas	Pancrea
17	chr18:9611400-9612600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:9611400-9613400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr18:9611400-9613600	Weak transcription	Lung	lung
20	chr18:9611600-9612800	Weak transcription	HSMMtube	muscle
21	chr18:9611600-9613000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:9611600-9613200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr18:9611600-9613400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:9611600-9613400	Weak transcription	Psoas Muscle	Psoas
25	chr18:9611600-9613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:9611600-9613600	Weak transcription	Gastric	stomach
27	chr18:9611600-9613800	Weak transcription	Spleen	Spleen
28	chr18:9611800-9612600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr18:9611800-9612800	Enhancers	Fetal Heart	heart
30	chr18:9611800-9613200	Weak transcription	Placenta	Placenta
31	chr18:9611800-9613400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:9611800-9613400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr18:9612000-9612600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr18:9612000-9612600	Active TSS	Esophagus	oesophagus
35	chr18:9612000-9612600	Enhancers	Fetal Intestine Small	intestine
36	chr18:9612000-9612600	Transcr. at gene 5' and 3'	HMEC	breast
37	chr18:9612000-9612800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr18:9612000-9613000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr18:9612000-9613200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr18:9612000-9613200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr18:9612000-9613200	Transcr. at gene 5' and 3'	NHEK	skin
42	chr18:9612000-9613400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr18:9612000-9613600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr18:9612000-9615000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:9612200-9612600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr18:9612200-9612600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr18:9612200-9612600	Enhancers	Adipose Nuclei	Adipose
48	chr18:9612200-9612600	Enhancers	Brain Hippocampus Middle	brain
49	chr18:9612200-9612600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr18:9612200-9612600	Flanking Active TSS	Fetal Brain Female	brain

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