Variant report

Variant	rs2229660
Chromosome Location	chr14:24566163-24566164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24565695-24566345	K562	blood:	n/a	n/a
2	POLR2A	chr14:24562976-24566552	K562	blood:	n/a	n/a
3	POLR2A	chr14:24565790-24566478	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:24565738-24566205	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr14:24565612-24566514	K562	blood:	n/a	n/a
6	POLR2A	chr14:24565702-24566340	Raji	blood:	n/a	n/a
7	POLR2A	chr14:24562896-24566757	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:24562763-24566727	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:24565802-24566209	HCT-116	colon:	n/a	n/a
10	HEY1	chr14:24562708-24566621	HepG2	liver:	n/a	chr14:24563470-24563485
11	POLR2A	chr14:24565726-24566411	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:24565629-24566257	HCT-116	colon:	n/a	n/a
13	POLR2A	chr14:24562572-24566806	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:24565769-24566345	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr14:24565814-24566404	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr14:24565651-24566562	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24562071..24566278-chr14:24680757..24683932,6	K562	blood:
2	chr14:24503791..24508058-chr14:24562194..24566408,5	MCF-7	breast:
3	chr14:24562695..24566492-chr14:24599252..24601875,4	MCF-7	breast:
4	chr14:24562501..24566419-chr14:24801112..24803821,3	MCF-7	breast:
5	chr14:24519379..24521106-chr14:24565277..24567591,2	MCF-7	breast:
6	chr14:24553570..24556291-chr14:24564269..24566521,3	K562	blood:
7	chr14:24564630..24567496-chr14:24588664..24591114,2	K562	blood:
8	chr14:24564247..24566666-chr14:24663194..24664723,2	K562	blood:
9	chr14:24561906..24569428-chr14:24581597..24585823,19	K562	blood:
10	chr14:24563238..24566404-chr14:24628642..24631690,5	MCF-7	breast:
11	chr14:24527757..24529326-chr14:24565246..24567353,2	K562	blood:
12	chr14:24563401..24566381-chr14:24701473..24703662,2	MCF-7	breast:

No data

Variant related genes	Relation type
PCK2	TF binding region
NRL	TF binding region
ENSG00000092098	Chromatin interaction
ENSG00000139914	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000259371	Chromatin interaction
ENSG00000225766	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000254505	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10132601	1.00[CHB][hapmap]
rs11574512	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs11622481	1.00[CHB][hapmap]
rs17101262	1.00[CHB][hapmap]
rs17101962	1.00[CHB][hapmap]
rs2229464	1.00[CHB][hapmap]
rs2295305	1.00[MEX][hapmap]
rs2855009	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs7146599	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24564200-24575200	Weak transcription	Aorta	Aorta
2	chr14:24564600-24570000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:24564800-24566400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:24564800-24567800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:24564800-24568000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:24564800-24568000	Weak transcription	Brain Substantia Nigra	brain
7	chr14:24564800-24568200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:24564800-24571600	Weak transcription	Small Intestine	intestine
9	chr14:24564800-24582600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:24565000-24566200	Enhancers	Colonic Mucosa	Colon
11	chr14:24565000-24566400	Enhancers	Pancreas	Pancrea
12	chr14:24565000-24567200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:24565000-24567400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:24565000-24567400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:24565000-24567400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:24565000-24567400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:24565000-24567400	Weak transcription	Thymus	Thymus
18	chr14:24565000-24567600	Weak transcription	Placenta	Placenta
19	chr14:24565000-24567600	Weak transcription	Gastric	stomach
20	chr14:24565000-24573000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:24565000-24575200	Weak transcription	HUVEC	blood vessel
22	chr14:24565000-24578000	Weak transcription	Brain Anterior Caudate	brain
23	chr14:24565000-24582600	Weak transcription	HSMM	muscle
24	chr14:24565200-24566200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:24565200-24566200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr14:24565200-24566200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:24565200-24566400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:24565200-24566400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:24565200-24567000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr14:24565200-24567000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr14:24565200-24567200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:24565200-24567200	Weak transcription	Primary T cells from cord blood	blood
33	chr14:24565200-24567200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr14:24565200-24567200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:24565200-24567200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:24565200-24567200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr14:24565200-24567200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr14:24565200-24567400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:24565200-24567400	Weak transcription	Right Ventricle	heart
40	chr14:24565200-24567400	Weak transcription	A549	lung
41	chr14:24565200-24567600	Weak transcription	Fetal Lung	lung
42	chr14:24565200-24567600	Weak transcription	Fetal Thymus	thymus
43	chr14:24565200-24567600	Weak transcription	Stomach Mucosa	stomach
44	chr14:24565200-24567800	Weak transcription	Fetal Muscle Leg	muscle
45	chr14:24565200-24568000	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:24565200-24568000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr14:24565200-24568400	Weak transcription	Colon Smooth Muscle	Colon
48	chr14:24565200-24568600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:24565200-24568600	Weak transcription	HMEC	breast
50	chr14:24565200-24569000	Weak transcription	Osteobl	bone

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