Variant report

Variant	rs568716733
Chromosome Location	chr12:123436643-123436644
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	RUNX3	chr12:123436521-123437195	GM12878	blood:	n/a	n/a
2	NFIC	chr12:123436492-123437160	GM12878	blood:	n/a	n/a
3	WRNIP1	chr12:123436527-123437198	GM12878	blood:	n/a	n/a
4	RAD21	chr12:123435803-123437497	HCT-116	colon:	n/a	chr12:123437031-123437050 chr12:123437049-123437068 chr12:123437033-123437045 chr12:123437034-123437047
5	BATF	chr12:123436523-123437162	GM12878	blood:	n/a	n/a
6	RAD21	chr12:123436594-123437306	H1-hESC	embryonic stem cell:	n/a	chr12:123437031-123437050 chr12:123437049-123437068 chr12:123437033-123437045 chr12:123437034-123437047
7	RAD21	chr12:123436001-123437620	SK-N-SH	brain:	n/a	chr12:123437031-123437050 chr12:123437049-123437068 chr12:123437033-123437045 chr12:123437034-123437047
8	RUNX3	chr12:123436480-123437288	GM12878	blood:	n/a	n/a
9	PML	chr12:123436276-123437385	GM12878	blood:	n/a	n/a
10	MTA3	chr12:123436557-123437443	GM12878	blood:	n/a	n/a
11	CTCF	chr12:123435997-123437705	SK-N-SH	brain:	n/a	chr12:123437050-123437071 chr12:123436242-123436251 chr12:123437033-123437051 chr12:123437035-123437048 chr12:123437028-123437049
12	CTCF	chr12:123436610-123437359	HCT-116	colon:	n/a	chr12:123437050-123437071 chr12:123437033-123437051 chr12:123437035-123437048 chr12:123437028-123437049
13	RAD21	chr12:123436624-123437297	Hela-S3	cervix:	n/a	chr12:123437031-123437050 chr12:123437049-123437068 chr12:123437033-123437045 chr12:123437034-123437047
14	CTCF	chr12:123436540-123436690	GM12872	blood:	n/a	n/a
15	CTCF	chr12:123436615-123437443	MCF-7	breast:	n/a	chr12:123437050-123437071 chr12:123437033-123437051 chr12:123437035-123437048 chr12:123437028-123437049
16	CTCF	chr12:123436436-123437491	HCT-116	colon:	n/a	chr12:123437050-123437071 chr12:123437033-123437051 chr12:123437035-123437048 chr12:123437028-123437049
17	MAX	chr12:123435802-123437585	HCT-116	colon:	n/a	chr12:123436104-123436114
18	CTCF	chr12:123435961-123437565	A549	lung:	n/a	chr12:123437050-123437071 chr12:123436242-123436251 chr12:123437033-123437051 chr12:123437035-123437048 chr12:123437028-123437049
19	SMC3	chr12:123436018-123437604	SK-N-SH	brain:	n/a	chr12:123437035-123437049 chr12:123436241-123436249
20	SMC3	chr12:123436537-123437270	Hela-S3	cervix:	n/a	chr12:123437035-123437049
21	SMC3	chr12:123436428-123437286	GM12878	blood:	n/a	chr12:123437035-123437049
22	RAD21	chr12:123436525-123437446	HCT-116	colon:	n/a	chr12:123437031-123437050 chr12:123437049-123437068 chr12:123437033-123437045 chr12:123437034-123437047
23	RAD21	chr12:123436516-123437275	GM12878	blood:	n/a	chr12:123437031-123437050 chr12:123437049-123437068 chr12:123437033-123437045 chr12:123437034-123437047
24	BCL3	chr12:123436632-123437430	A549	lung:	n/a	n/a
25	FOXM1	chr12:123436635-123437381	GM12878	blood:	n/a	n/a
26	MTA3	chr12:123436588-123437291	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123352169..123352839-chr12:123436532..123437356,4	MCF-7	breast:
2	chr12:123345450..123347445-chr12:123435441..123437142,2	K562	blood:
3	chr12:123344033..123345790-chr12:123436594..123437583,6	K562	blood:
4	chr12:123426745..123429433-chr12:123432536..123436941,4	K562	blood:
5	chr12:123436582..123437364-chr12:123722407..123722993,2	MCF-7	breast:
6	chr12:123344516..123345436-chr12:123436080..123437135,3	MCF-7	breast:
7	chr12:123365086..123366070-chr12:123436544..123437474,3	MCF-7	breast:
8	chr12:123277865..123278865-chr12:123436617..123437472,2	MCF-7	breast:
9	chr12:123349951..123350563-chr12:123436556..123437356,2	MCF-7	breast:
10	chr12:123341218..123343418-chr12:123435392..123437282,2	MCF-7	breast:
11	chr12:123342536..123343202-chr12:123436624..123437128,3	MCF-7	breast:
12	chr12:98896342..98897176-chr12:123436322..123436849,2	Hela-S3	cervix:
13	chr12:123430132..123431757-chr12:123435986..123437614,2	MCF-7	breast:
14	chr12:123343330..123344224-chr12:123436558..123437338,2	MCF-7	breast:
15	chr12:123344434..123345913-chr12:123436269..123437707,10	MCF-7	breast:

Variant related genes	Relation type
ABCB9	TF binding region
ENSG00000130787	Chromatin interaction
ENSG00000150967	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv560491	chr12:123425575-123444422	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv899577	chr12:123435248-123484474	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123403000-123444200	Weak transcription	Aorta	Aorta
2	chr12:123412800-123449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123413400-123449600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:123413600-123450000	Weak transcription	Primary T cells from cord blood	blood
5	chr12:123417400-123441800	Weak transcription	Ovary	ovary
6	chr12:123417600-123446200	Weak transcription	Fetal Lung	lung
7	chr12:123429600-123444000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:123429800-123444000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:123430000-123441800	Weak transcription	Fetal Brain Male	brain
10	chr12:123431800-123439600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:123432000-123439800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:123432000-123444000	Weak transcription	Thymus	Thymus
13	chr12:123432200-123439600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:123432200-123441800	Weak transcription	Right Ventricle	heart
15	chr12:123432200-123444200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:123432200-123446000	Weak transcription	Right Atrium	heart
17	chr12:123432200-123446000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:123432200-123446000	Weak transcription	K562	blood
19	chr12:123432200-123450000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:123432200-123450200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:123432400-123436800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:123432400-123439600	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:123432400-123444200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:123432400-123444200	Weak transcription	Pancreas	Pancrea
25	chr12:123432400-123448200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:123432400-123449600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:123432400-123450000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:123432600-123441600	Weak transcription	Lung	lung
29	chr12:123432600-123444200	Weak transcription	Esophagus	oesophagus
30	chr12:123432600-123444200	Weak transcription	Spleen	Spleen
31	chr12:123432600-123444400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:123432600-123448200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:123432600-123450000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:123433000-123441800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:123433200-123436800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:123433200-123441800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:123433600-123437000	Enhancers	Stomach Mucosa	stomach
38	chr12:123433800-123437600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr12:123434000-123437200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:123434200-123436800	Enhancers	HMEC	breast
41	chr12:123434400-123439800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:123434600-123439600	Weak transcription	Placenta	Placenta
43	chr12:123434800-123437200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr12:123434800-123441600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:123435000-123443000	Weak transcription	Brain Anterior Caudate	brain
46	chr12:123435200-123437200	Weak transcription	Brain Angular Gyrus	brain
47	chr12:123435200-123442800	Weak transcription	Brain Substantia Nigra	brain
48	chr12:123435200-123444200	Weak transcription	Gastric	stomach
49	chr12:123435400-123436800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:123435400-123436800	Enhancers	NHEK	skin

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