Variant report

Variant	rs550664731
Chromosome Location	chr18:9612213-9612214
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	MYC	chr18:9612174-9612600	MCF10A-Er-Src	breast:	n/a	n/a
2	RAD21	chr18:9612174-9612705	A549	lung:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
3	EBF1	chr18:9612202-9612506	GM12878	blood:	n/a	n/a
4	FOXA1	chr18:9612108-9612580	HepG2	liver:	n/a	n/a
5	CTCF	chr18:9612206-9612590	A549	lung:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
6	POLR2A	chr18:9612171-9612535	Hela-S3	cervix:	n/a	n/a
7	RAD21	chr18:9612129-9612579	HepG2	liver:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
8	CTCF	chr18:9612012-9612769	A549	lung:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
9	MXI1	chr18:9611932-9615928	SK-N-SH	brain:	n/a	n/a
10	RAD21	chr18:9612021-9612797	HCT-116	colon:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
11	RAD21	chr18:9612147-9612627	H1-hESC	embryonic stem cell:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
12	SP1	chr18:9612189-9612631	A549	lung:	n/a	n/a
13	FOXA2	chr18:9612180-9612488	HepG2	liver:	n/a	n/a
14	CTCF	chr18:9612209-9612661	HepG2	liver:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
15	CTCF	chr18:9612207-9612498	K562	blood:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
16	POLR2A	chr18:9612160-9616803	MCF10A-Er-Src	breast:	n/a	n/a
17	RAD21	chr18:9612139-9612650	MCF-7	breast:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
18	RAD21	chr18:9612194-9612638	IMR90	lung:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
19	RAD21	chr18:9612207-9612614	Hela-S3	cervix:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
20	RAD21	chr18:9612141-9612657	ECC-1	luminal epithelium:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
21	CTCF	chr18:9612109-9612622	HCT-116	colon:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
22	TBL1XR1	chr18:9612171-9612381	K562	blood:	n/a	n/a
23	POLR2A	chr18:9612067-9612599	Hela-S3	cervix:	n/a	n/a
24	RAD21	chr18:9612030-9612814	SK-N-SH	brain:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
25	SMC3	chr18:9612191-9612568	HepG2	liver:	n/a	chr18:9612401-9612415
26	CTCF	chr18:9611977-9612956	SK-N-SH	brain:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
27	RAD21	chr18:9612105-9612733	HCT-116	colon:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
28	RAD21	chr18:9612133-9612681	A549	lung:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
29	RAD21	chr18:9612209-9612639	ECC-1	luminal epithelium:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
30	FOXA1	chr18:9612157-9612592	HepG2	liver:	n/a	n/a
31	EBF1	chr18:9612204-9612567	GM12878	blood:	n/a	n/a
32	CTCF	chr18:9612206-9612720	HCT-116	colon:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
33	RAD21	chr18:9612148-9612727	MCF-7	breast:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
34	RAD21	chr18:9612184-9612541	GM12878	blood:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
35	CTCF	chr18:9612162-9612674	MCF-7	breast:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
36	SMC3	chr18:9612009-9613284	SK-N-SH	brain:	n/a	chr18:9612401-9612415
37	CTCF	chr18:9612178-9612584	K562	blood:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
38	CEBPB	chr18:9612162-9612626	A549	lung:	n/a	n/a
39	BCLAF1	chr18:9612190-9612625	GM12878	blood:	n/a	n/a
40	POLR2A	chr18:9612107-9616277	MCF10A-Er-Src	breast:	n/a	n/a
41	RAD21	chr18:9612154-9612613	A549	lung:	n/a	chr18:9612402-9612409 chr18:9612404-9612416 chr18:9612404-9612413 chr18:9612400-9612419
42	CTCF	chr18:9612169-9612651	IMR90	lung:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
43	CTCF	chr18:9612136-9612656	K562	blood:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
44	CTCF	chr18:9612207-9612613	GM12878	blood:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
45	CTCF	chr18:9612170-9612617	MCF-7	breast:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412
46	FOXA2	chr18:9612196-9612627	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9612136..9615353-chr18:9912435..9915971,5	MCF-7	breast:
2	chr18:9598014..9601741-chr18:9607589..9612497,6	MCF-7	breast:
3	chr18:9612064..9613483-chr18:9661140..9662203,5	MCF-7	breast:
4	chr18:9575298..9576117-chr18:9611923..9612878,3	MCF-7	breast:
5	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:
6	chr18:9610247..9612763-chr18:9683592..9685519,2	K562	blood:

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv543644	chr18:9576145-9612516	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	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	chr18:9588600-9612400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:9594200-9613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:9597400-9613200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:9598000-9612600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:9604800-9612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr18:9607200-9613400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr18:9608200-9613600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr18:9609000-9612400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr18:9609400-9612400	Weak transcription	Aorta	Aorta
11	chr18:9609400-9612600	Weak transcription	Brain Angular Gyrus	brain
12	chr18:9609400-9612800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr18:9609400-9613600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr18:9609600-9612400	Weak transcription	Ovary	ovary
15	chr18:9609600-9612400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr18:9609600-9612400	Weak transcription	Right Atrium	heart
17	chr18:9609600-9612400	Weak transcription	Right Ventricle	heart
18	chr18:9609600-9612600	Weak transcription	Primary T cells from cord blood	blood
19	chr18:9609600-9613000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr18:9609600-9613200	Weak transcription	Thymus	Thymus
21	chr18:9609600-9613400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr18:9609800-9613000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr18:9610000-9612400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:9610400-9612400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr18:9610800-9612400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr18:9610800-9612400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr18:9611000-9612400	Genic enhancers	Muscle Satellite Cultured Cells	--
28	chr18:9611200-9612800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr18:9611200-9613400	Weak transcription	Pancreas	Pancrea
30	chr18:9611400-9612400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr18:9611400-9612600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:9611400-9613400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr18:9611400-9613600	Weak transcription	Lung	lung
34	chr18:9611600-9612400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:9611600-9612400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr18:9611600-9612400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr18:9611600-9612400	Weak transcription	Brain Anterior Caudate	brain
38	chr18:9611600-9612800	Weak transcription	HSMMtube	muscle
39	chr18:9611600-9613000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr18:9611600-9613200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr18:9611600-9613400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:9611600-9613400	Weak transcription	Psoas Muscle	Psoas
43	chr18:9611600-9613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:9611600-9613600	Weak transcription	Gastric	stomach
45	chr18:9611600-9613800	Weak transcription	Spleen	Spleen
46	chr18:9611800-9612400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr18:9611800-9612400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr18:9611800-9612600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr18:9611800-9612800	Enhancers	Fetal Heart	heart
50	chr18:9611800-9613200	Weak transcription	Placenta	Placenta

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