Variant report

Variant	rs368955292
Chromosome Location	chr3:49967583-49967584
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:188)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:188 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr3:49967531-49967693	K562	blood:	n/a	n/a
2	POLR2A	chr3:49966960-49967741	SK-N-MC	brain:	n/a	n/a
3	CEBPB	chr3:49966915-49967625	HepG2	liver:	n/a	chr3:49967424-49967435
4	POLR2A	chr3:49966816-49967643	PFSK-1	brain:	n/a	n/a
5	TFAP2C	chr3:49966843-49967668	Hela-S3	cervix:	n/a	n/a
6	MYC	chr3:49966679-49967817	K562	blood:	n/a	n/a
7	MAZ	chr3:49966798-49967587	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr3:49966846-49967606	Hela-S3	cervix:	n/a	n/a
9	NR2F2	chr3:49966825-49967651	MCF-7	breast:	n/a	n/a
10	MXI1	chr3:49966649-49967728	IMR90	lung:	n/a	n/a
11	EP300	chr3:49966759-49967694	K562	blood:	n/a	chr3:49967437-49967446
12	POLR2A	chr3:49966807-49967608	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr3:49967142-49967728	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr3:49966798-49967627	GM12892	blood:	n/a	n/a
15	MAX	chr3:49966620-49967682	A549	lung:	n/a	n/a
16	TAF1	chr3:49966990-49967693	K562	blood:	n/a	n/a
17	KAP1	chr3:49966889-49967689	U2OS	brain:	n/a	n/a
18	POLR2A	chr3:49966983-49967693	K562	blood:	n/a	n/a
19	MYC	chr3:49966883-49967583	HepG2	liver:	n/a	n/a
20	POLR2A	chr3:49966865-49967690	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr3:49967046-49967659	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr3:49966716-49967652	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr3:49966830-49967790	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr3:49966730-49967702	GM12891	blood:	n/a	n/a
25	E2F6	chr3:49966778-49967586	K562	blood:	n/a	n/a
26	HCFC1	chr3:49966646-49967880	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr3:49966740-49967653	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr3:49966622-49967834	HepG2	liver:	n/a	n/a
29	CEBPB	chr3:49966838-49967666	H1-hESC	embryonic stem cell:	n/a	chr3:49967424-49967435
30	POLR2A	chr3:49966867-49967624	GM12878	blood:	n/a	n/a
31	CEBPB	chr3:49967256-49967625	A549	lung:	n/a	chr3:49967424-49967435
32	MAZ	chr3:49966687-49967644	K562	blood:	n/a	n/a
33	POLR2A	chr3:49966907-49967796	PANC-1	pancreas:	n/a	n/a
34	CEBPB	chr3:49966870-49967627	Hela-S3	cervix:	n/a	chr3:49967424-49967435
35	HNF4A	chr3:49966874-49967674	HepG2	liver:	n/a	chr3:49967497-49967505 chr3:49967500-49967512 chr3:49967498-49967513
36	POLR2A	chr3:49966761-49967655	K562	blood:	n/a	n/a
37	SIN3AK20	chr3:49966708-49967730	HCT-116	colon:	n/a	n/a
38	ARID3A	chr3:49967290-49967702	HepG2	liver:	n/a	n/a
39	CEBPB	chr3:49967284-49967659	MCF-7	breast:	n/a	chr3:49967424-49967435
40	ZC3H11A	chr3:49967037-49967745	K562	blood:	n/a	n/a
41	SIN3AK20	chr3:49966619-49967755	HCT-116	colon:	n/a	n/a
42	JUN	chr3:49966690-49967837	K562	blood:	n/a	chr3:49966767-49966776
43	POLR2A	chr3:49967043-49967648	K562	blood:	n/a	n/a
44	TCF12	chr3:49966968-49967659	A549	lung:	n/a	n/a
45	POLR2A	chr3:49966829-49967656	HepG2	liver:	n/a	n/a
46	MYBL2	chr3:49966841-49967765	HepG2	liver:	n/a	n/a
47	POLR2A	chr3:49966780-49968209	HepG2	liver:	n/a	n/a
48	MYBL2	chr3:49966867-49967653	HepG2	liver:	n/a	n/a
49	POLR2A	chr3:49966779-49967675	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr3:49966777-49967662	GM12892	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49892535..49894935-chr3:49965699..49968471,2	K562	blood:
2	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
3	chr3:49840341..49842910-chr3:49967049..49969753,2	K562	blood:
4	chr3:49965568..49971141-chr3:49975411..49979217,7	MCF-7	breast:
5	chr3:49966957..49970009-chr3:49975972..49978983,5	MCF-7	breast:
6	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
7	chr3:49966031..49968659-chr3:50125180..50127794,3	K562	blood:
8	chr3:49750537..49752087-chr3:49966182..49968764,2	K562	blood:
9	chr3:49966762..49969614-chr3:50125142..50129125,3	K562	blood:

No data

Variant related genes	Relation type
MON1A	TF binding region
ENSG00000003756	Chromatin interaction
ENSG00000164068	Chromatin interaction
ENSG00000004534	Chromatin interaction
ENSG00000183763	Chromatin interaction
ENSG00000185614	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	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	chr3:49966000-49967800	Active TSS	Fetal Kidney	kidney
2	chr3:49966000-49968200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr3:49966200-49967800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:49966200-49967800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:49966200-49967800	Active TSS	Brain Hippocampus Middle	brain
6	chr3:49966200-49968000	Active TSS	Psoas Muscle	Psoas
7	chr3:49966200-49968200	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr3:49966400-49967600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr3:49966400-49967600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr3:49966400-49967600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr3:49966400-49967600	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr3:49966400-49967600	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr3:49966400-49967600	Active TSS	Brain Angular Gyrus	brain
14	chr3:49966400-49967600	Active TSS	Brain Anterior Caudate	brain
15	chr3:49966400-49967600	Active TSS	Brain Germinal Matrix	brain
16	chr3:49966400-49967600	Active TSS	Colon Smooth Muscle	Colon
17	chr3:49966400-49967600	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr3:49966400-49967600	Active TSS	A549	lung
19	chr3:49966400-49967600	Active TSS	NHDF-Ad	bronchial
20	chr3:49966400-49967800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr3:49966400-49968000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:49966400-49968000	Active TSS	Brain Cingulate Gyrus	brain
23	chr3:49966400-49968000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr3:49966400-49968000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:49966400-49968000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr3:49966600-49967600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:49966600-49967600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:49966600-49967600	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr3:49966600-49967600	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr3:49966600-49967600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:49966600-49967600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:49966600-49967600	Active TSS	Right Ventricle	heart
33	chr3:49966600-49967800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr3:49966600-49967800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr3:49966600-49967800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr3:49966600-49967800	Active TSS	Fetal Stomach	stomach
37	chr3:49966600-49967800	Flanking Active TSS	Fetal Thymus	thymus
38	chr3:49966600-49967800	Active TSS	Left Ventricle	heart
39	chr3:49966600-49967800	Active TSS	Ovary	ovary
40	chr3:49966600-49967800	Active TSS	Pancreas	Pancrea
41	chr3:49966600-49967800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr3:49966600-49968000	Active TSS	Right Atrium	heart
43	chr3:49966600-49968000	Active TSS	K562	blood
44	chr3:49966600-49968200	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr3:49966600-49968200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr3:49966800-49967600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:49966800-49967600	Active TSS	Fetal Heart	heart
48	chr3:49966800-49967600	Active TSS	Fetal Lung	lung
49	chr3:49966800-49967600	Active TSS	Placenta	Placenta
50	chr3:49966800-49967600	Active TSS	Gastric	stomach

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