Variant report

Variant	rs553627354
Chromosome Location	chr12:49413176-49413177
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:49412292-49413514	K562	blood:	n/a	n/a
2	CEBPB	chr12:49413165-49413214	K562	blood:	n/a	n/a
3	POLR2A	chr12:49411457-49413584	HUVEC	blood vessel:	n/a	n/a
4	HCFC1	chr12:49411403-49413692	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:49413171-49413580	K562	blood:	n/a	n/a
6	POLR2A	chr12:49411659-49413471	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:49411497-49414182	K562	blood:	n/a	n/a
8	SPI1	chr12:49412299-49413184	HL-60	blood:	n/a	n/a
9	POLR2A	chr12:49411569-49413474	GM12891	blood:	n/a	n/a
10	POLR2A	chr12:49411493-49414082	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:49411719-49413468	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:49411424-49414153	PFSK-1	brain:	n/a	n/a
13	MTA3	chr12:49411372-49413319	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:49411433-49413995	SK-N-MC	brain:	n/a	n/a
15	MXI1	chr12:49410957-49414233	SK-N-SH	brain:	n/a	n/a
16	MAFK	chr12:49412128-49413190	IMR90	lung:	n/a	n/a
17	EGR1	chr12:49413025-49413226	K562	blood:	n/a	n/a
18	TAF1	chr12:49411868-49413177	ECC-1	luminal epithelium:	n/a	n/a
19	TCF12	chr12:49411725-49413198	A549	lung:	n/a	n/a
20	SIN3AK20	chr12:49411782-49413206	MCF-7	breast:	n/a	n/a
21	GABPA	chr12:49411935-49413254	MCF-7	breast:	n/a	n/a
22	POLR2A	chr12:49411523-49413888	GM12878	blood:	n/a	n/a
23	EP300	chr12:49412381-49413952	K562	blood:	n/a	n/a
24	POLR2A	chr12:49412211-49413220	K562	blood:	n/a	n/a
25	REST	chr12:49411428-49413207	H1-neurons	neurons:	n/a	n/a
26	BCL3	chr12:49411769-49413233	A549	lung:	n/a	n/a
27	POLR2A	chr12:49411509-49413600	PANC-1	pancreas:	n/a	n/a
28	ZNF384	chr12:49412389-49413241	K562	blood:	n/a	n/a
29	NR2F2	chr12:49411523-49413212	K562	blood:	n/a	n/a
30	MAFK	chr12:49412507-49413192	HepG2	liver:	n/a	n/a
31	MYC	chr12:49411754-49413499	K562	blood:	n/a	n/a
32	BCL3	chr12:49411561-49413194	A549	lung:	n/a	n/a
33	POLR2A	chr12:49413144-49413915	U87	brain:	n/a	n/a
34	POLR2A	chr12:49412072-49413566	U87	brain:	n/a	n/a
35	POLR2A	chr12:49411426-49413584	IMR90	lung:	n/a	n/a
36	POLR2A	chr12:49411828-49413183	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr12:49411569-49414053	HepG2	liver:	n/a	n/a
38	MAZ	chr12:49411100-49414103	IMR90	lung:	n/a	n/a
39	POLR2A	chr12:49411589-49414016	K562	blood:	n/a	n/a
40	CTCF	chr12:49411270-49413544	A549	lung:	n/a	n/a

No data

(count:28 , 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	chr12:49412434..49414037-chr12:49481965..49485048,3	K562	blood:
9	chr12:49368203..49373775-chr12:49410781..49415457,6	K562	blood:
10	chr12:49388402..49390811-chr12:49410964..49413711,2	MCF-7	breast:
11	chr12:49207853..49210267-chr12:49412242..49414195,2	K562	blood:
12	chr12:49244558..49246896-chr12:49411138..49413434,2	MCF-7	breast:
13	chr12:49349516..49351260-chr12:49410887..49413470,2	K562	blood:
14	chr12:49410733..49415536-chr12:49523564..49526910,8	K562	blood:
15	chr12:49412487..49414498-chr12:49429302..49431280,2	MCF-7	breast:
16	chr12:49410579..49413468-chr12:49666098..49668038,2	K562	blood:
17	chr12:49369680..49374710-chr12:49411684..49416052,5	K562	blood:
18	chr12:49411035..49414032-chr12:49431081..49434275,3	K562	blood:
19	chr12:49109260..49113049-chr12:49411417..49414170,4	K562	blood:
20	chr12:49409658..49414587-chr12:49499656..49504173,4	K562	blood:
21	chr12:49409714..49416851-chr12:49447402..49455499,24	MCF-7	breast:
22	chr12:49407466..49416688-chr12:49451532..49456163,12	MCF-7	breast:
23	chr12:49411929..49413687-chr17:57923911..57925440,2	MCF-7	breast:
24	chr12:49411020..49415552-chr12:49523211..49527183,13	K562	blood:
25	chr12:49410141..49415550-chr12:49657481..49661686,9	K562	blood:
26	chr12:49209305..49214344-chr12:49410836..49414443,6	MCF-7	breast:
27	chr12:49410463..49414527-chr12:49462417..49465664,5	K562	blood:
28	chr12:49412128..49415221-chr12:49522907..49525212,5	MCF-7	breast:

No data

Variant related genes	Relation type
PRKAG1	TF binding region
ENSG00000167553	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000125084	Chromatin interaction
ENSG00000258232	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000167550	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000200303	Chromatin interaction
ENSG00000258283	Chromatin interaction
ENSG00000167535	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49411200-49413200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:49411400-49413200	Active TSS	Fetal Muscle Trunk	muscle
3	chr12:49411400-49413200	Active TSS	Psoas Muscle	Psoas
4	chr12:49411400-49413200	Active TSS	NHLF	lung
5	chr12:49411400-49413600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:49411600-49413200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:49411600-49413200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:49411600-49413200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:49411600-49413200	Active TSS	Left Ventricle	heart
10	chr12:49411800-49413200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:49411800-49413200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr12:49411800-49413200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr12:49411800-49413200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:49411800-49413200	Active TSS	Fetal Intestine Small	intestine
15	chr12:49411800-49413200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:49411800-49413200	Active TSS	Ovary	ovary
17	chr12:49411800-49413200	Active TSS	A549	lung
18	chr12:49411800-49413200	Active TSS	HSMMtube	muscle
19	chr12:49411800-49413200	Active TSS	NHDF-Ad	bronchial
20	chr12:49411800-49413400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr12:49411800-49413400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr12:49412000-49413200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr12:49412000-49413200	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr12:49412000-49413200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:49412000-49413200	Active TSS	Brain Angular Gyrus	brain
26	chr12:49412000-49413200	Active TSS	Brain Anterior Caudate	brain
27	chr12:49412000-49413200	Active TSS	Brain Cingulate Gyrus	brain
28	chr12:49412000-49413200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:49412000-49413200	Active TSS	Fetal Intestine Large	intestine
30	chr12:49412000-49413200	Active TSS	Fetal Stomach	stomach
31	chr12:49412000-49413200	Active TSS	Right Ventricle	heart
32	chr12:49412000-49413200	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr12:49412000-49413200	Active TSS	GM12878-XiMat	blood
34	chr12:49412000-49413200	Active TSS	HMEC	breast
35	chr12:49412000-49413200	Active TSS	Monocytes-CD14+_RO01746	blood
36	chr12:49412000-49413400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr12:49412000-49413400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr12:49412000-49413400	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr12:49412000-49413400	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:49412000-49413400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:49412000-49413400	Active TSS	Fetal Kidney	kidney
42	chr12:49412000-49413400	Active TSS	Thymus	Thymus
43	chr12:49412000-49413600	Active TSS	Duodenum Mucosa	Duodenum
44	chr12:49412200-49413200	Active TSS	Primary B cells from cord blood	blood
45	chr12:49412200-49413200	Active TSS	Primary B cells from peripheral blood	blood
46	chr12:49412200-49413200	Active TSS	Liver	Liver
47	chr12:49412200-49413200	Active TSS	Fetal Brain Female	brain
48	chr12:49412200-49413200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr12:49412200-49413400	Active TSS	Adipose Nuclei	Adipose
50	chr12:49412200-49413600	Active TSS	Brain Inferior Temporal Lobe	brain

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