Variant report

Variant	rs547417850
Chromosome Location	chr12:124456940-124456941
allele	A/C
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	HMGN3	chr12:124456487-124458651	K562	blood:	n/a	n/a
2	POLR2A	chr12:124456891-124457602	HCT-116	colon:	n/a	n/a
3	MAX	chr12:124456512-124457156	K562	blood:	n/a	n/a
4	MAZ	chr12:124455899-124458832	IMR90	lung:	n/a	chr12:124457562-124457572 chr12:124457558-124457568 chr12:124457947-124457957 chr12:124457536-124457545 chr12:124457385-124457395
5	POLR2A	chr12:124456923-124458433	Raji	blood:	n/a	n/a
6	EGR1	chr12:124456897-124457140	GM12878	blood:	n/a	chr12:124457008-124457022 chr12:124456989-124457003
7	MAX	chr12:124456840-124458010	ECC-1	luminal epithelium:	n/a	chr12:124457562-124457572 chr12:124457558-124457568 chr12:124457947-124457957 chr12:124457536-124457545 chr12:124457385-124457395
8	MXI1	chr12:124455887-124459788	SK-N-SH	brain:	n/a	n/a
9	ZBTB7A	chr12:124456420-124457960	K562	blood:	n/a	n/a
10	UBTF	chr12:124456240-124458968	K562	blood:	n/a	n/a
11	POLR2A	chr12:124456899-124458423	A549	lung:	n/a	n/a
12	MAZ	chr12:124456877-124458010	GM12878	blood:	n/a	chr12:124457562-124457572 chr12:124457558-124457568 chr12:124457947-124457957 chr12:124457536-124457545 chr12:124457385-124457395
13	CREB1	chr12:124456839-124457955	A549	lung:	n/a	n/a
14	POLR2A	chr12:124456819-124458721	Hela-S3	cervix:	n/a	n/a
15	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
16	MAZ	chr12:124456939-124458755	K562	blood:	n/a	chr12:124457562-124457572 chr12:124457558-124457568 chr12:124457947-124457957 chr12:124457536-124457545 chr12:124457385-124457395
17	POLR2A	chr12:124456820-124458200	MCF-7	breast:	n/a	n/a
18	POLR2A	chr12:124456787-124458140	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr12:124456681-124458529	ProgFib	skin:	n/a	n/a
20	POLR2A	chr12:124456785-124458650	ECC-1	luminal epithelium:	n/a	n/a
21	ELF1	chr12:124456223-124456985	GM12878	blood:	n/a	n/a
22	CHD2	chr12:124456875-124458256	Hela-S3	cervix:	n/a	chr12:124457570-124457580
23	EGR1	chr12:124456820-124457188	ECC-1	luminal epithelium:	n/a	chr12:124457008-124457022 chr12:124456989-124457003
24	EGR1	chr12:124456610-124457123	K562	blood:	n/a	chr12:124456729-124456739 chr12:124457008-124457022 chr12:124456989-124457003
25	MAX	chr12:124456744-124458622	HepG2	liver:	n/a	chr12:124457562-124457572 chr12:124457558-124457568 chr12:124457947-124457957 chr12:124457536-124457545 chr12:124457385-124457395
26	HEY1	chr12:124456836-124457494	HepG2	liver:	n/a	chr12:124457384-124457399 chr12:124457442-124457457
27	CREB1	chr12:124456892-124458105	HepG2	liver:	n/a	n/a
28	POLR2A	chr12:124456859-124458584	MCF10A-Er-Src	breast:	n/a	n/a
29	SIN3AK20	chr12:124456821-124457596	PANC-1	pancreas:	n/a	n/a
30	ZEB1	chr12:124456877-124457624	GM12878	blood:	n/a	chr12:124457513-124457526 chr12:124457071-124457078 chr12:124457031-124457038
31	POLR2A	chr12:124456916-124458654	HepG2	liver:	n/a	n/a
32	HCFC1	chr12:124456750-124458595	Hela-S3	cervix:	n/a	n/a
33	ZBTB7A	chr12:124456585-124456953	K562	blood:	n/a	n/a
34	POLR2A	chr12:124456681-124458733	MCF-7	breast:	n/a	n/a
35	ZEB1	chr12:124456815-124457231	GM12878	blood:	n/a	chr12:124457071-124457078 chr12:124457031-124457038
36	POLR2A	chr12:124456936-124458131	HUVEC	blood vessel:	n/a	n/a
37	MAZ	chr12:124456736-124457971	HepG2	liver:	n/a	chr12:124457562-124457572 chr12:124457558-124457568 chr12:124457947-124457957 chr12:124457536-124457545 chr12:124457385-124457395
38	CEBPD	chr12:124456930-124458037	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:124456894-124458075	HepG2	liver:	n/a	n/a
40	MXI1	chr12:124455833-124459062	IMR90	lung:	n/a	n/a
41	POLR2A	chr12:124456926-124458749	K562	blood:	n/a	n/a
42	EGR1	chr12:124456566-124457231	HCT-116	colon:	n/a	chr12:124456729-124456739 chr12:124457008-124457022 chr12:124456989-124457003
43	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
44	NR2F2	chr12:124456799-124457639	MCF-7	breast:	n/a	n/a
45	ZBTB7A	chr12:124456624-124456959	HepG2	liver:	n/a	n/a
46	POLR2A	chr12:124456797-124457604	A549	lung:	n/a	n/a
47	TCF7L2	chr12:124456601-124457888	HCT-116	colon:	n/a	n/a
48	SMARCB1	chr12:124456464-124458752	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr12:124456784-124458037	MCF10A-Er-Src	breast:	n/a	n/a
50	ZBTB7A	chr12:124456421-124457462	ECC-1	luminal epithelium:	n/a	n/a

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
ENSG00000270095	TF binding region
FAM101A	TF binding region
ENSG00000270061	TF binding region
CCDC92	TF binding region
ENSG00000269938	TF binding region
ZNF664	TF binding region
ENSG00000173838	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000270130	Chromatin interaction
ENSG00000270048	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000270005	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000170412	Chromatin interaction
ENSG00000270061	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000269938	Chromatin interaction
ENSG00000197653	Chromatin interaction
ENSG00000269997	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	chr12:124455600-124458600	Active TSS	Osteobl	bone
6	chr12:124455600-124458800	Active TSS	HMEC	breast
7	chr12:124455600-124459000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:124455600-124459400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr12:124455600-124459400	Active TSS	Fetal Intestine Large	intestine
10	chr12:124455800-124457000	Active TSS	Stomach Mucosa	stomach
11	chr12:124455800-124458600	Active TSS	Brain Anterior Caudate	brain
12	chr12:124455800-124458600	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr12:124455800-124458600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:124455800-124458600	Active TSS	Stomach Smooth Muscle	stomach
15	chr12:124455800-124458800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:124455800-124458800	Active TSS	Brain Angular Gyrus	brain
17	chr12:124455800-124458800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:124455800-124459000	Active TSS	Fetal Intestine Small	intestine
19	chr12:124456000-124457000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:124456000-124457000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr12:124456000-124457000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:124456000-124457000	Bivalent/Poised TSS	HepG2	liver
23	chr12:124456000-124458600	Active TSS	Brain Substantia Nigra	brain
24	chr12:124456000-124458600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr12:124456000-124458600	Active TSS	Psoas Muscle	Psoas
26	chr12:124456000-124458600	Active TSS	Rectal Smooth Muscle	rectum
27	chr12:124456000-124458600	Active TSS	Thymus	Thymus
28	chr12:124456000-124458800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:124456000-124458800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:124456000-124458800	Active TSS	Aorta	Aorta
31	chr12:124456000-124458800	Active TSS	A549	lung
32	chr12:124456000-124458800	Active TSS	GM12878-XiMat	blood
33	chr12:124456000-124458800	Active TSS	HSMM	muscle
34	chr12:124456000-124458800	Active TSS	NH-A	brain
35	chr12:124456000-124459000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr12:124456000-124459000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr12:124456000-124459000	Active TSS	Left Ventricle	heart
38	chr12:124456000-124459000	Active TSS	Right Ventricle	heart
39	chr12:124456000-124459200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:124456000-124459200	Active TSS	Brain Cingulate Gyrus	brain
41	chr12:124456000-124459200	Active TSS	Duodenum Mucosa	Duodenum
42	chr12:124456000-124459400	Active TSS	NHLF	lung
43	chr12:124456200-124457000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr12:124456200-124457000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr12:124456200-124457000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:124456200-124457000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:124456200-124458600	Active TSS	Muscle Satellite Cultured Cells	--
48	chr12:124456200-124458600	Active TSS	Colon Smooth Muscle	Colon
49	chr12:124456200-124458800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:124456200-124458800	Active TSS	Small Intestine	intestine

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