Variant report

Variant	rs4983339
Chromosome Location	chr14:105931585-105931586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr14:105931217-105934273	ECC-1	luminal epithelium:	n/a	chr14:105931752-105931780
2	ZBTB7A	chr14:105931272-105934068	ECC-1	luminal epithelium:	n/a	chr14:105933900-105933908
3	POLR2A	chr14:105931335-105932048	Hela-S3	cervix:	n/a	n/a
4	TCF12	chr14:105931161-105934112	ECC-1	luminal epithelium:	n/a	chr14:105933631-105933638 chr14:105933728-105933738
5	NFIC	chr14:105931225-105933349	ECC-1	luminal epithelium:	n/a	chr14:105931752-105931780
6	POLR2A	chr14:105930662-105932416	SK-N-MC	brain:	n/a	n/a
7	ZNF263	chr14:105931191-105932199	HEK293-T-REx	kidney:	n/a	chr14:105932000-105932009
8	ZBTB7A	chr14:105931165-105934186	ECC-1	luminal epithelium:	n/a	chr14:105933900-105933908
9	TCF12	chr14:105931192-105934132	ECC-1	luminal epithelium:	n/a	chr14:105933631-105933638 chr14:105933728-105933738
10	FOXM1	chr14:105931558-105932794	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr14:105931544-105931681	H1-hESC	embryonic stem cell:	n/a	n/a
12	EP300	chr14:105931055-105934162	ECC-1	luminal epithelium:	n/a	chr14:105931707-105931723 chr14:105932404-105932420 chr14:105932403-105932419 chr14:105932008-105932024 chr14:105932746-105932753

No.	Distal block	Cell Line	Cell type
1	chr14:105931323..105933742-chr14:105993820..105997139,3	MCF-7	breast:
2	chr14:105913441..105915504-chr14:105931555..105934334,2	K562	blood:
3	chr14:105930163..105933758-chr14:105934789..105938563,5	K562	blood:
4	chr14:105925177..105927753-chr14:105930969..105933397,2	K562	blood:
5	chr14:105902828..105905242-chr14:105930834..105932344,2	K562	blood:
6	chr14:105839498..105842285-chr14:105930985..105932739,2	MCF-7	breast:

Variant related genes	Relation type
MTA1	TF binding region
ENSG00000184986	Chromatin interaction
ENSG00000257270	Chromatin interaction
ENSG00000242085	Chromatin interaction
ENSG00000182979	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10131380	0.85[AMR][1000 genomes]
rs10131764	0.85[YRI][hapmap]
rs10144583	0.80[YRI][hapmap]
rs11620688	1.00[CHD][hapmap]
rs12100473	1.00[CHD][hapmap]
rs28725385	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs34448096	1.00[MEX][hapmap]
rs35590487	1.00[CHD][hapmap]
rs4983340	0.85[AMR][1000 genomes]
rs4983423	1.00[CHD][hapmap]
rs4983617	0.85[YRI][hapmap]
rs4983618	0.85[YRI][hapmap]
rs4983619	0.85[YRI][hapmap]
rs6576104	0.85[AMR][1000 genomes]
rs7494350	1.00[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105889200-105939800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:105889200-105939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:105897800-105940000	Weak transcription	K562	blood
4	chr14:105898400-105931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:105898400-105939800	Weak transcription	NHDF-Ad	bronchial
6	chr14:105902800-105937800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:105903200-105935400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:105904400-105939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:105907000-105940600	Weak transcription	Small Intestine	intestine
10	chr14:105912000-105937000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:105915400-105935000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:105915400-105936800	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr14:105915600-105937000	Strong transcription	Fetal Stomach	stomach
14	chr14:105919000-105935200	Weak transcription	Stomach Mucosa	stomach
15	chr14:105923400-105933800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:105923600-105933600	Weak transcription	GM12878-XiMat	blood
17	chr14:105926200-105935800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:105926200-105937000	Strong transcription	Brain Germinal Matrix	brain
19	chr14:105926200-105937400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:105926400-105931600	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:105926400-105932400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:105926400-105933600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:105926400-105933600	Strong transcription	Gastric	stomach
24	chr14:105926400-105934200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:105926400-105934800	Strong transcription	Pancreas	Pancrea
26	chr14:105926400-105936600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr14:105926400-105936600	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:105926400-105937000	Strong transcription	Fetal Intestine Small	intestine
29	chr14:105926400-105937800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:105926400-105937800	Strong transcription	Fetal Brain Female	brain
31	chr14:105926400-105937800	Strong transcription	Thymus	Thymus
32	chr14:105926600-105931600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:105926600-105931600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:105926600-105931600	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:105926600-105931800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:105926600-105932000	Strong transcription	Aorta	Aorta
37	chr14:105926600-105932000	Strong transcription	Brain Anterior Caudate	brain
38	chr14:105926600-105932000	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr14:105926600-105932200	Strong transcription	Colon Smooth Muscle	Colon
40	chr14:105926600-105932400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr14:105926600-105932400	Strong transcription	Liver	Liver
42	chr14:105926600-105932400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr14:105926600-105933200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:105926600-105933800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:105926600-105933800	Strong transcription	Brain Hippocampus Middle	brain
46	chr14:105926600-105934000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:105926600-105934400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr14:105926600-105934800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:105926600-105934800	Strong transcription	Adipose Nuclei	Adipose
50	chr14:105926600-105934800	Strong transcription	Rectal Mucosa Donor 31	rectum

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