Variant report

Variant	rs34813816
Chromosome Location	chr12:49413675-49413676
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr12:49411403-49413692	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:49411497-49414182	K562	blood:	n/a	n/a
3	CTCF	chr12:49413662-49414119	K562	blood:	n/a	n/a
4	POLR2A	chr12:49411493-49414082	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:49411424-49414153	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr12:49411433-49413995	SK-N-MC	brain:	n/a	n/a
7	MXI1	chr12:49410957-49414233	SK-N-SH	brain:	n/a	n/a
8	ZNF384	chr12:49413668-49413677	K562	blood:	n/a	n/a
9	POLR2A	chr12:49413264-49414100	HL-60	blood:	n/a	n/a
10	POLR2A	chr12:49411523-49413888	GM12878	blood:	n/a	n/a
11	EP300	chr12:49412381-49413952	K562	blood:	n/a	n/a
12	CTCF	chr12:49413637-49414210	SK-N-SH	brain:	n/a	n/a
13	ZBTB7A	chr12:49413590-49414066	K562	blood:	n/a	n/a
14	MYC	chr12:49413415-49414077	NB4	blood:	n/a	n/a
15	MAX	chr12:49413378-49414092	NB4	blood:	n/a	n/a
16	POLR2A	chr12:49413144-49413915	U87	brain:	n/a	n/a
17	POLR2A	chr12:49413643-49413984	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:49411569-49414053	HepG2	liver:	n/a	n/a
19	MAZ	chr12:49411100-49414103	IMR90	lung:	n/a	n/a
20	POLR2A	chr12:49411589-49414016	K562	blood:	n/a	n/a
21	POLR2A	chr12:49413271-49414110	HL-60	blood:	n/a	n/a
22	STAT3	chr12:49413606-49413806	MCF10A-Er-Src	breast:	n/a	n/a
23	CTCF	chr12:49413561-49414191	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
ENSG00000272822	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000125084	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000200303	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000258283	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000167550	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	chr12:49412200-49414000	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	chr12:49412800-49413800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:49412800-49414000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr12:49412800-49414000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr12:49412800-49414000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:49413000-49413800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:49413000-49413800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:49413000-49414000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:49413000-49414000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:49413000-49414000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:49413000-49414000	Enhancers	Placenta	Placenta
14	chr12:49413000-49414600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:49413000-49414600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:49413000-49414600	Weak transcription	Lung	lung
17	chr12:49413000-49414600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:49413000-49415000	Weak transcription	Esophagus	oesophagus
19	chr12:49413000-49415000	Weak transcription	Pancreas	Pancrea
20	chr12:49413000-49415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:49413000-49415200	Weak transcription	Aorta	Aorta
22	chr12:49413000-49415200	Weak transcription	Brain Substantia Nigra	brain
23	chr12:49413000-49415200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:49413000-49415600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:49413000-49416000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:49413000-49453400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:49413200-49413800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr12:49413200-49413800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:49413200-49413800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr12:49413200-49413800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:49413200-49413800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:49413200-49413800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr12:49413200-49413800	Enhancers	Fetal Brain Male	brain
34	chr12:49413200-49413800	Enhancers	Fetal Intestine Large	intestine
35	chr12:49413200-49413800	Flanking Active TSS	A549	lung
36	chr12:49413200-49413800	Flanking Active TSS	K562	blood
37	chr12:49413200-49414000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:49413200-49414000	Enhancers	Primary B cells from peripheral blood	blood
39	chr12:49413200-49414000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr12:49413200-49414000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr12:49413200-49414000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:49413200-49414000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr12:49413200-49414000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:49413200-49414000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:49413200-49414000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:49413200-49414000	Enhancers	Colon Smooth Muscle	Colon
47	chr12:49413200-49414000	Enhancers	Fetal Heart	heart
48	chr12:49413200-49414000	Enhancers	Fetal Muscle Trunk	muscle
49	chr12:49413200-49414000	Enhancers	Fetal Thymus	thymus
50	chr12:49413200-49414000	Flanking Active TSS	Dnd41	blood

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