Variant report

Variant	rs112377455
Chromosome Location	chr12:124456747-124456748
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	SP1	chr12:124456239-124456782	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:124456091-124456768	H1-neurons	neurons:	n/a	n/a
3	HMGN3	chr12:124456487-124458651	K562	blood:	n/a	n/a
4	MAX	chr12:124456512-124457156	K562	blood:	n/a	n/a
5	MAZ	chr12:124455899-124458832	IMR90	lung:	n/a	chr12:124457562-124457572 chr12:124457558-124457568 chr12:124457947-124457957 chr12:124457536-124457545 chr12:124457385-124457395
6	MXI1	chr12:124455887-124459788	SK-N-SH	brain:	n/a	n/a
7	ZBTB7A	chr12:124456420-124457960	K562	blood:	n/a	n/a
8	UBTF	chr12:124456240-124458968	K562	blood:	n/a	n/a
9	REST	chr12:124455987-124459250	H1-neurons	neurons:	n/a	chr12:124458758-124458766 chr12:124458339-124458352 chr12:124457841-124457854 chr12:124456713-124456733 chr12:124458582-124458591 chr12:124457610-124457620
10	POLR2A	chr12:124456681-124458529	ProgFib	skin:	n/a	n/a
11	ELF1	chr12:124456223-124456985	GM12878	blood:	n/a	n/a
12	SP4	chr12:124456222-124456798	H1-hESC	embryonic stem cell:	n/a	n/a
13	EGR1	chr12:124456610-124457123	K562	blood:	n/a	chr12:124456729-124456739 chr12:124457008-124457022 chr12:124456989-124457003
14	CTBP2	chr12:124456277-124456852	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr12:124456744-124458622	HepG2	liver:	n/a	chr12:124457562-124457572 chr12:124457558-124457568 chr12:124457947-124457957 chr12:124457536-124457545 chr12:124457385-124457395
16	ZBTB7A	chr12:124456585-124456953	K562	blood:	n/a	n/a
17	POLR2A	chr12:124456681-124458733	MCF-7	breast:	n/a	n/a
18	MAZ	chr12:124456736-124457971	HepG2	liver:	n/a	chr12:124457562-124457572 chr12:124457558-124457568 chr12:124457947-124457957 chr12:124457536-124457545 chr12:124457385-124457395
19	MXI1	chr12:124455833-124459062	IMR90	lung:	n/a	n/a
20	EGR1	chr12:124456566-124457231	HCT-116	colon:	n/a	chr12:124456729-124456739 chr12:124457008-124457022 chr12:124456989-124457003
21	TCF12	chr12:124456315-124456766	H1-hESC	embryonic stem cell:	n/a	n/a
22	EGR1	chr12:124456514-124457972	HCT-116	colon:	n/a	chr12:124457562-124457575 chr12:124457386-124457399 chr12:124457386-124457399 chr12:124457910-124457920 chr12:124456729-124456739 chr12:124457389-124457399 chr12:124457946-124457956 chr12:124457382-124457404 chr12:124457386-124457400 chr12:124457749-124457758 chr12:124457389-124457398 chr12:124457799-124457808 chr12:124457952-124457962 chr12:124457754-124457763 chr12:124457008-124457022 chr12:124457602-124457611 chr12:124457386-124457399 chr12:124457501-124457510 chr12:124457386-124457399 chr12:124457561-124457571 chr12:124456989-124457003 chr12:124457566-124457576 chr12:124457795-124457804 chr12:124457704-124457713 chr12:124457797-124457806 chr12:124457384-124457394
23	ZBTB7A	chr12:124456624-124456959	HepG2	liver:	n/a	n/a
24	ZEB1	chr12:124456603-124456814	GM12878	blood:	n/a	n/a
25	TCF7L2	chr12:124456601-124457888	HCT-116	colon:	n/a	n/a
26	SMARCB1	chr12:124456464-124458752	Hela-S3	cervix:	n/a	n/a
27	ZBTB7A	chr12:124456421-124457462	ECC-1	luminal epithelium:	n/a	n/a
28	EGR1	chr12:124456631-124457085	K562	blood:	n/a	chr12:124456729-124456739 chr12:124457008-124457022 chr12:124456989-124457003
29	POLR2A	chr12:124456529-124458678	MCF-7	breast:	n/a	n/a
30	ZNF143	chr12:124456671-124457981	GM12878	blood:	n/a	chr12:124457611-124457621 chr12:124457606-124457624 chr12:124457859-124457869 chr12:124457950-124457960 chr12:124456729-124456747 chr12:124457078-124457088 chr12:124457242-124457252
31	ZBTB7A	chr12:124456592-124456924	HepG2	liver:	n/a	n/a
32	ZBTB7A	chr12:124456322-124457607	ECC-1	luminal epithelium:	n/a	n/a
33	CCNT2	chr12:124456410-124458750	K562	blood:	n/a	chr12:124457953-124457962 chr12:124457619-124457628

No.	Distal block	Cell Line	Cell type
1	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
2	chr12:58147914..58149817-chr12:124454309..124457254,2	MCF-7	breast:
3	chr12:124442245..124448648-chr12:124455013..124459797,7	K562	blood:
4	chr12:124389950..124393053-chr12:124455413..124457949,3	MCF-7	breast:
5	chr12:124443831..124448109-chr12:124456314..124459797,5	K562	blood:
6	chr12:124450274..124453930-chr12:124454051..124458606,8	K562	blood:
7	chr12:124456109..124458010-chr17:60780590..60782745,2	MCF-7	breast:
8	chr12:124419696..124421587-chr12:124455495..124458360,2	MCF-7	breast:
9	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
10	chr12:124426853..124428789-chr12:124454676..124457058,3	K562	blood:
11	chr12:124195456..124198460-chr12:124455550..124458339,3	MCF-7	breast:
12	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
13	chr12:124456565..124458963-chr17:72427263..72429561,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270061	TF binding region
FAM101A	TF binding region
ENSG00000269938	TF binding region
ZNF664	TF binding region
CCDC92	TF binding region
ENSG00000270095	TF binding region
ENSG00000270048	Chromatin interaction
ENSG00000173838	Chromatin interaction
ENSG00000269938	Chromatin interaction
ENSG00000270005	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000269997	Chromatin interaction
ENSG00000170412	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000270061	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000197653	Chromatin interaction
ENSG00000270130	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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3404000	chr12:124455199-124459397	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3437066	chr12:124455824-124458572	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3331641	chr12:124456249-124458547	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3338195	chr12:124456524-124459372	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124454600-124457400	Active TSS	Right Atrium	heart
2	chr12:124454600-124459800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:124455000-124458600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:124455200-124459000	Active TSS	NHDF-Ad	bronchial
5	chr12:124455600-124456800	Active TSS	Brain Germinal Matrix	brain
6	chr12:124455600-124458600	Active TSS	Osteobl	bone
7	chr12:124455600-124458800	Active TSS	HMEC	breast
8	chr12:124455600-124459000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:124455600-124459400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr12:124455600-124459400	Active TSS	Fetal Intestine Large	intestine
11	chr12:124455800-124456800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:124455800-124456800	Flanking Active TSS	Liver	Liver
13	chr12:124455800-124457000	Active TSS	Stomach Mucosa	stomach
14	chr12:124455800-124458600	Active TSS	Brain Anterior Caudate	brain
15	chr12:124455800-124458600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:124455800-124458600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr12:124455800-124458600	Active TSS	Stomach Smooth Muscle	stomach
18	chr12:124455800-124458800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:124455800-124458800	Active TSS	Brain Angular Gyrus	brain
20	chr12:124455800-124458800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:124455800-124459000	Active TSS	Fetal Intestine Small	intestine
22	chr12:124456000-124456800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr12:124456000-124456800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:124456000-124456800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr12:124456000-124456800	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr12:124456000-124456800	Active TSS	Fetal Kidney	kidney
27	chr12:124456000-124456800	Flanking Active TSS	Dnd41	blood
28	chr12:124456000-124457000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:124456000-124457000	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr12:124456000-124457000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:124456000-124457000	Bivalent/Poised TSS	HepG2	liver
32	chr12:124456000-124458600	Active TSS	Brain Substantia Nigra	brain
33	chr12:124456000-124458600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr12:124456000-124458600	Active TSS	Psoas Muscle	Psoas
35	chr12:124456000-124458600	Active TSS	Rectal Smooth Muscle	rectum
36	chr12:124456000-124458600	Active TSS	Thymus	Thymus
37	chr12:124456000-124458800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:124456000-124458800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:124456000-124458800	Active TSS	Aorta	Aorta
40	chr12:124456000-124458800	Active TSS	A549	lung
41	chr12:124456000-124458800	Active TSS	GM12878-XiMat	blood
42	chr12:124456000-124458800	Active TSS	HSMM	muscle
43	chr12:124456000-124458800	Active TSS	NH-A	brain
44	chr12:124456000-124459000	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr12:124456000-124459000	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr12:124456000-124459000	Active TSS	Left Ventricle	heart
47	chr12:124456000-124459000	Active TSS	Right Ventricle	heart
48	chr12:124456000-124459200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:124456000-124459200	Active TSS	Brain Cingulate Gyrus	brain
50	chr12:124456000-124459200	Active TSS	Duodenum Mucosa	Duodenum

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