Variant report

Variant	rs546701118
Chromosome Location	chr12:49413959-49413960
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:204)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:204 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:49413880-49414030	GM12801	blood:	n/a	n/a
2	RAD21	chr12:49413932-49414041	HepG2	liver:	n/a	n/a
3	CTCF	chr12:49413880-49414030	HPAF	blood vessel:	n/a	n/a
4	CTCF	chr12:49413840-49413990	HRE	kidney:	n/a	n/a
5	CTCF	chr12:49413940-49414090	GM12869	blood:	n/a	n/a
6	CTCF	chr12:49413900-49414050	A549	lung:	n/a	n/a
7	CTCF	chr12:49413858-49414049	A549	lung:	n/a	n/a
8	CTCF	chr12:49413880-49414030	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr12:49413864-49414043	GM13977	blood:	n/a	n/a
10	CTCF	chr12:49413840-49413990	GM12870	blood:	n/a	n/a
11	CTCF	chr12:49413793-49414082	K562	blood:	n/a	n/a
12	CTCF	chr12:49413880-49414030	GM12873	blood:	n/a	n/a
13	POLR2A	chr12:49411497-49414182	K562	blood:	n/a	n/a
14	CTCF	chr12:49413860-49414010	SAEC	small airway:	n/a	n/a
15	CTCF	chr12:49413662-49414119	K562	blood:	n/a	n/a
16	CTCF	chr12:49413860-49414010	AG04450	lung:	n/a	n/a
17	E2F6	chr12:49413814-49414003	K562	blood:	n/a	n/a
18	CTCF	chr12:49413900-49414050	GM12874	blood:	n/a	n/a
19	CTCF	chr12:49413880-49414030	BJ	skin:	n/a	n/a
20	SPI1	chr12:49413806-49413986	K562	blood:	n/a	n/a
21	HDAC2	chr12:49413765-49414050	K562	blood:	n/a	n/a
22	CTCF	chr12:49413880-49414030	AG10803	skin:	n/a	n/a
23	CTCF	chr12:49413856-49414066	Medullo	brain:	n/a	n/a
24	POLR2A	chr12:49411493-49414082	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr12:49413851-49414013	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr12:49413767-49414078	K562	blood:	n/a	n/a
27	CTCF	chr12:49413840-49413990	HAc	cerebellar:	n/a	n/a
28	CTCF	chr12:49413846-49414017	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr12:49413811-49414113	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr12:49413825-49414051	A549	lung:	n/a	n/a
31	CTCF	chr12:49413873-49414023	ProgFib	skin:	n/a	n/a
32	CTCF	chr12:49413840-49414062	GM12891	blood:	n/a	n/a
33	CTCF	chr12:49413880-49414030	GM12874	blood:	n/a	n/a
34	HCFC1	chr12:49413872-49413999	K562	blood:	n/a	n/a
35	CTCF	chr12:49413860-49414010	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr12:49413800-49414016	HepG2	liver:	n/a	n/a
37	CTCF	chr12:49413757-49414137	K562	blood:	n/a	n/a
38	RAD21	chr12:49413812-49414060	A549	lung:	n/a	n/a
39	POLR2A	chr12:49413816-49413977	GM12878	blood:	n/a	n/a
40	CTCF	chr12:49413878-49414026	GM20000	blood:	n/a	n/a
41	MAX	chr12:49413861-49414028	K562	blood:	n/a	n/a
42	CTCF	chr12:49413880-49414030	GM06990	blood:	n/a	n/a
43	CTCF	chr12:49413888-49414038	GM13976	blood:	n/a	n/a
44	RAD21	chr12:49413857-49414017	HepG2	liver:	n/a	n/a
45	CTCF	chr12:49413880-49414030	HPF	lung:	n/a	n/a
46	CTCF	chr12:49413840-49413990	GM12878	blood:	n/a	n/a
47	CTCF	chr12:49413900-49414050	RPTEC	kidney:	n/a	n/a
48	CTCF	chr12:49413823-49414080	K562	blood:	n/a	n/a
49	CTCF	chr12:49413920-49414070	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr12:49413900-49414050	HCPEpiC	choroid plexus:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49411250..49414905-chr12:49447359..49450802,6	MCF-7	breast:
2	chr12:49408415..49414757-chr12:49522619..49525582,9	MCF-7	breast:
3	chr12:49410741..49414968-chr12:49656213..49660641,6	K562	blood:
4	chr12:49408338..49419708-chr12:49447252..49460551,38	K562	blood:
5	chr12:49348804..49352502-chr12:49411258..49414497,4	MCF-7	breast:
6	chr12:49412238..49414069-chr12:49657738..49659294,2	MCF-7	breast:
7	chr12:49349202..49351999-chr12:49410599..49414055,4	MCF-7	breast:
8	chr12:49361132..49362678-chr12:49413782..49415312,2	MCF-7	breast:
9	chr12:49412434..49414037-chr12:49481965..49485048,3	K562	blood:
10	chr12:49368203..49373775-chr12:49410781..49415457,6	K562	blood:
11	chr12:49207853..49210267-chr12:49412242..49414195,2	K562	blood:
12	chr12:49410733..49415536-chr12:49523564..49526910,8	K562	blood:
13	chr12:49412487..49414498-chr12:49429302..49431280,2	MCF-7	breast:
14	chr12:49369680..49374710-chr12:49411684..49416052,5	K562	blood:
15	chr12:49411035..49414032-chr12:49431081..49434275,3	K562	blood:
16	chr12:49109260..49113049-chr12:49411417..49414170,4	K562	blood:
17	chr12:49409658..49414587-chr12:49499656..49504173,4	K562	blood:
18	chr12:49409714..49416851-chr12:49447402..49455499,24	MCF-7	breast:
19	chr12:49390223..49391069-chr12:49413217..49414800,4	K562	blood:
20	chr12:49407466..49416688-chr12:49451532..49456163,12	MCF-7	breast:
21	chr12:49411020..49415552-chr12:49523211..49527183,13	K562	blood:
22	chr12:49410141..49415550-chr12:49657481..49661686,9	K562	blood:
23	chr12:49209305..49214344-chr12:49410836..49414443,6	MCF-7	breast:
24	chr12:49410463..49414527-chr12:49462417..49465664,5	K562	blood:
25	chr12:49412128..49415221-chr12:49522907..49525212,5	MCF-7	breast:

No data

Variant related genes	Relation type
PRKAG1	TF binding region
ENSG00000258101	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000200303	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000167550	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000125084	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
6	esv3387384	chr12:49412035-49416433	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv3397588	chr12:49413110-49415658	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
8	esv3354957	chr12:49413735-49414983	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	16 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	chr12:49412200-49414000	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr12:49412600-49414000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:49412600-49415000	Weak transcription	Gastric	stomach
4	chr12:49412800-49414000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:49412800-49414000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr12:49412800-49414000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:49413000-49414000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:49413000-49414000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:49413000-49414000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:49413000-49414000	Enhancers	Placenta	Placenta
11	chr12:49413000-49414600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:49413000-49414600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:49413000-49414600	Weak transcription	Lung	lung
14	chr12:49413000-49414600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:49413000-49415000	Weak transcription	Esophagus	oesophagus
16	chr12:49413000-49415000	Weak transcription	Pancreas	Pancrea
17	chr12:49413000-49415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:49413000-49415200	Weak transcription	Aorta	Aorta
19	chr12:49413000-49415200	Weak transcription	Brain Substantia Nigra	brain
20	chr12:49413000-49415200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:49413000-49415600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:49413000-49416000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:49413000-49453400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:49413200-49414000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:49413200-49414000	Enhancers	Primary B cells from peripheral blood	blood
26	chr12:49413200-49414000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr12:49413200-49414000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr12:49413200-49414000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:49413200-49414000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr12:49413200-49414000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:49413200-49414000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:49413200-49414000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:49413200-49414000	Enhancers	Colon Smooth Muscle	Colon
34	chr12:49413200-49414000	Enhancers	Fetal Heart	heart
35	chr12:49413200-49414000	Enhancers	Fetal Muscle Trunk	muscle
36	chr12:49413200-49414000	Enhancers	Fetal Thymus	thymus
37	chr12:49413200-49414000	Flanking Active TSS	Dnd41	blood
38	chr12:49413200-49414000	Enhancers	HSMM	muscle
39	chr12:49413200-49414000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr12:49413200-49414000	Enhancers	Osteobl	bone
41	chr12:49413200-49414200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:49413200-49414200	Enhancers	Primary B cells from cord blood	blood
43	chr12:49413200-49414200	Enhancers	Fetal Muscle Leg	muscle
44	chr12:49413200-49414400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:49413200-49414400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:49413200-49414400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr12:49413200-49414400	Weak transcription	NHLF	lung
48	chr12:49413200-49414600	Weak transcription	Ovary	ovary
49	chr12:49413200-49415000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:49413200-49415200	Weak transcription	Right Ventricle	heart

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