Variant report

Variant	rs7975791
Chromosome Location	chr12:49413486-49413487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 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	POLR2A	chr12:49411457-49413584	HUVEC	blood vessel:	n/a	n/a
3	HCFC1	chr12:49411403-49413692	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:49413171-49413580	K562	blood:	n/a	n/a
5	POLR2A	chr12:49411497-49414182	K562	blood:	n/a	n/a
6	POLR2A	chr12:49411493-49414082	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:49413268-49413565	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr12:49413181-49413544	HCT-116	colon:	n/a	n/a
9	RCOR1	chr12:49413380-49413519	K562	blood:	n/a	n/a
10	POLR2A	chr12:49411424-49414153	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr12:49411433-49413995	SK-N-MC	brain:	n/a	n/a
12	MXI1	chr12:49410957-49414233	SK-N-SH	brain:	n/a	n/a
13	TBL1XR1	chr12:49413385-49413569	K562	blood:	n/a	n/a
14	POLR2A	chr12:49413264-49414100	HL-60	blood:	n/a	n/a
15	POLR2A	chr12:49411523-49413888	GM12878	blood:	n/a	n/a
16	EP300	chr12:49412381-49413952	K562	blood:	n/a	n/a
17	JUND	chr12:49413312-49413534	K562	blood:	n/a	n/a
18	POLR2A	chr12:49411509-49413600	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr12:49413309-49413533	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:49413219-49413557	HepG2	liver:	n/a	n/a
21	MYC	chr12:49413415-49414077	NB4	blood:	n/a	n/a
22	GTF2F1	chr12:49413397-49413570	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr12:49411754-49413499	K562	blood:	n/a	n/a
24	MAX	chr12:49413378-49414092	NB4	blood:	n/a	n/a
25	POLR2A	chr12:49413144-49413915	U87	brain:	n/a	n/a
26	POLR2A	chr12:49412072-49413566	U87	brain:	n/a	n/a
27	POLR2A	chr12:49411426-49413584	IMR90	lung:	n/a	n/a
28	CTCF	chr12:49413360-49413510	HCPEpiC	choroid plexus:	n/a	n/a
29	POLR2A	chr12:49411569-49414053	HepG2	liver:	n/a	n/a
30	MAZ	chr12:49411100-49414103	IMR90	lung:	n/a	n/a
31	POLR2A	chr12:49411589-49414016	K562	blood:	n/a	n/a
32	POLR2A	chr12:49413271-49414110	HL-60	blood:	n/a	n/a
33	CTCF	chr12:49411270-49413544	A549	lung:	n/a	n/a

No data

(count:26 , 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	chr12:49410733..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	chr12:49411929..49413687-chr17:57923911..57925440,2	MCF-7	breast:
22	chr12:49411020..49415552-chr12:49523211..49527183,13	K562	blood:
23	chr12:49410141..49415550-chr12:49657481..49661686,9	K562	blood:
24	chr12:49209305..49214344-chr12:49410836..49414443,6	MCF-7	breast:
25	chr12:49410463..49414527-chr12:49462417..49465664,5	K562	blood:
26	chr12:49412128..49415221-chr12:49522907..49525212,5	MCF-7	breast:

No data

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11551274	1.00[AFR][1000 genomes]
rs3730071	1.00[AFR][1000 genomes]

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	chr12:49411400-49413600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:49412000-49413600	Active TSS	Duodenum Mucosa	Duodenum
3	chr12:49412200-49413600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr12:49412200-49414000	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr12:49412600-49414000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:49412600-49415000	Weak transcription	Gastric	stomach
7	chr12:49412800-49413600	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr12:49412800-49413600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr12:49412800-49413600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr12:49412800-49413600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr12:49412800-49413600	Flanking Active TSS	NH-A	brain
12	chr12:49412800-49413800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:49412800-49414000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr12:49412800-49414000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr12:49412800-49414000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:49413000-49413600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr12:49413000-49413600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:49413000-49413800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:49413000-49413800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:49413000-49414000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:49413000-49414000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:49413000-49414000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:49413000-49414000	Enhancers	Placenta	Placenta
24	chr12:49413000-49414600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:49413000-49414600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:49413000-49414600	Weak transcription	Lung	lung
27	chr12:49413000-49414600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:49413000-49415000	Weak transcription	Esophagus	oesophagus
29	chr12:49413000-49415000	Weak transcription	Pancreas	Pancrea
30	chr12:49413000-49415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:49413000-49415200	Weak transcription	Aorta	Aorta
32	chr12:49413000-49415200	Weak transcription	Brain Substantia Nigra	brain
33	chr12:49413000-49415200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:49413000-49415600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:49413000-49416000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:49413000-49453400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr12:49413200-49413600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:49413200-49413600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:49413200-49413600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr12:49413200-49413600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr12:49413200-49413600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr12:49413200-49413600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:49413200-49413600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:49413200-49413600	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:49413200-49413600	Enhancers	Fetal Lung	lung
46	chr12:49413200-49413600	Enhancers	Fetal Stomach	stomach
47	chr12:49413200-49413600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:49413200-49413600	Flanking Active TSS	HSMMtube	muscle
49	chr12:49413200-49413600	Enhancers	HUVEC	blood vessel
50	chr12:49413200-49413600	Enhancers	NHDF-Ad	bronchial

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