Variant report

Variant	rs372055976
Chromosome Location	chr14:24642336-24642337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24640714-24642559	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:24640902-24642906	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:24640454-24642983	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:24642245-24642367	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr14:24642274-24642347	Gliobla	brain:	n/a	n/a
6	MTA3	chr14:24641979-24642609	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:24641247-24642944	A549	lung:	n/a	n/a
8	POLR2A	chr14:24640638-24642869	GM19193	blood:	n/a	n/a
9	POLR2A	chr14:24642281-24642340	MCF-7	breast:	n/a	n/a
10	POLR2A	chr14:24639375-24643075	GM12891	blood:	n/a	n/a
11	POLR2A	chr14:24641993-24643047	GM12891	blood:	n/a	n/a
12	POLR2A	chr14:24639969-24643029	GM12891	blood:	n/a	n/a
13	POLR2A	chr14:24640569-24643031	H1-hESC	embryonic stem cell:	n/a	n/a
14	MXI1	chr14:24640504-24642708	SK-N-SH	brain:	n/a	n/a
15	GATA2	chr14:24642132-24642591	SH-SY5Y	brain:	n/a	n/a
16	EP300	chr14:24640548-24642714	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr14:24638137-24643601	GM12892	blood:	n/a	n/a
18	POLR2A	chr14:24642157-24642471	MCF-7	breast:	n/a	n/a
19	POLR2A	chr14:24639415-24643065	GM12892	blood:	n/a	n/a
20	POLR2A	chr14:24639366-24643007	GM12892	blood:	n/a	n/a
21	POLR2A	chr14:24641777-24642960	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:24642121-24642540	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr14:24640644-24642417	GM18505	blood:	n/a	n/a
24	POLR2A	chr14:24640456-24642980	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:24642270-24642354	MCF-7	breast:	n/a	n/a
26	POLR2A	chr14:24641513-24642756	HepG2	liver:	n/a	n/a
27	POLR2A	chr14:24629025-24642975	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:24628755-24643416	GM12878	blood:	n/a	n/a
29	POLR2A	chr14:24628891-24643060	GM12892	blood:	n/a	n/a
30	POLR2A	chr14:24635678-24642994	GM12891	blood:	n/a	n/a
31	POLR2A	chr14:24642325-24642437	A549	lung:	n/a	n/a
32	POLR2A	chr14:24641884-24642395	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24642317-24642367	HMEC	breast:	n/a
2	chr14:24642317-24642367	ovcar-3	ovarian:	n/a
3	chr14:24642317-24642367	HEK293	kidney:	embryo
4	chr14:24642317-24642367	GM19239	blood:	n/a
5	chr14:24642317-24642367	PFSK-1	brain:	n/a
6	chr14:24642317-24642367	MCF10A-Er-Src	breast:	n/a
7	chr14:24642317-24642367	Caco-2	colon:	n/a
8	chr14:24642317-24642367	AG09319	gingival:	n/a
9	chr14:24642317-24642367	NB4	blood:	n/a
10	chr14:24642317-24642367	Jurkat	blood:	n/a
11	chr14:24642317-24642367	AG04450	lung:	fetal
12	chr14:24642317-24642367	Hela-S3	cervix:	n/a
13	chr14:24642317-24642367	RPTEC	kidney:	n/a
14	chr14:24642317-24642367	HUVEC	blood vessel:	n/a
15	chr14:24642317-24642367	HCT-116	colon:	n/a
16	chr14:24642317-24642367	HPAEpiC	pulmonary alveolar:	n/a
17	chr14:24642317-24642367	H1-hESC	embryonic stem cell:	embryo
18	chr14:24642317-24642367	PANC-1	pancreas:	n/a
19	chr14:24642317-24642367	K562	blood:	n/a
20	chr14:24642317-24642367	HCF	heart:	n/a
21	chr14:24642317-24642367	HAEpiC	amniotic membrane:	n/a
22	chr14:24642317-24642367	LNCaP	prostate:	n/a
23	chr14:24642317-24642367	NHDF-neo	bronchial:	n/a
24	chr14:24642317-24642367	PrEC	prostate:	n/a
25	chr14:24642317-24642367	NT2-D1	testis:	n/a
26	chr14:24642317-24642367	SK-N-MC	brain:	n/a
27	chr14:24642317-24642367	GM12891	blood:	n/a
28	chr14:24642317-24642367	GM12892	blood:	n/a
29	chr14:24642317-24642367	HEEpiC	esophagus:	n/a
30	chr14:24642317-24642367	MCF-7	breast:	n/a
31	chr14:24642317-24642367	HRE	kidney:	n/a
32	chr14:24642317-24642367	ECC-1	luminal epithelium:	n/a
33	chr14:24642317-24642367	HCM	heart:	n/a
34	chr14:24642317-24642367	SKMC	muscle:	n/a
35	chr14:24642317-24642367	CMK	blood:	n/a
36	chr14:24642317-24642367	SK-N-SH_RA	brain:	n/a
37	chr14:24642317-24642367	AoSMC	blood vessel:	n/a
38	chr14:24642317-24642367	U87	brain:	n/a
39	chr14:24642317-24642367	HNPCEpiC	eye:	n/a
40	chr14:24642317-24642367	SAEC	small airway:	n/a
41	chr14:24642317-24642367	Hepatocyte	liver:	n/a
42	chr14:24642317-24642367	GM12878	blood:	n/a
43	chr14:24642317-24642367	A549	lung:	n/a
44	chr14:24642317-24642367	AG09309	skin:	n/a
45	chr14:24642317-24642367	BJ	skin:	n/a
46	chr14:24642317-24642367	ProgFib	skin:	n/a
47	chr14:24642317-24642367	HRPEpiC	eye:	n/a
48	chr14:24642317-24642367	HCPEpiC	choroid plexus:	n/a
49	chr14:24642317-24642367	HL-60	blood:	n/a
50	chr14:24642317-24642367	SK-N-SH	brain:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24625193..24627577-chr14:24641996..24645426,3	K562	blood:
2	chr14:24631879..24637788-chr14:24639506..24644553,5	K562	blood:
3	chr14:24641149..24643201-chr14:24656538..24659107,2	K562	blood:
4	chr14:24624246..24626788-chr14:24641996..24643836,2	K562	blood:
5	chr14:24639747..24642550-chr14:24651922..24653711,2	K562	blood:
6	chr14:24628958..24631680-chr14:24640156..24642572,2	K562	blood:
7	chr14:24642248..24644284-chr14:24723832..24725589,2	MCF-7	breast:
8	chr14:24640332..24642740-chr14:24644969..24648486,4	K562	blood:
9	chr14:24526357..24527984-chr14:24640632..24642546,2	MCF-7	breast:
10	chr14:24628913..24631680-chr14:24639494..24642572,3	K562	blood:

No data

Variant related genes	Relation type
REC8	TF binding region
REC8	CpG island
ENSG00000213928	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000092295	Chromatin interaction
ENSG00000100918	Chromatin interaction
ENSG00000196497	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv522667	chr14:24641526-24654590	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24631600-24653800	Weak transcription	K562	blood
2	chr14:24635200-24647400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:24635400-24647800	Weak transcription	HMEC	breast
4	chr14:24635600-24647000	Weak transcription	Dnd41	blood
5	chr14:24636200-24646000	Weak transcription	Stomach Mucosa	stomach
6	chr14:24636600-24646000	Weak transcription	Small Intestine	intestine
7	chr14:24636600-24647400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:24637000-24648000	Weak transcription	HSMM	muscle
9	chr14:24637000-24648200	Weak transcription	HSMMtube	muscle
10	chr14:24637200-24644400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:24637200-24645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:24637200-24645800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:24637200-24646000	Weak transcription	HepG2	liver
14	chr14:24637200-24648000	Weak transcription	Aorta	Aorta
15	chr14:24638200-24648600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:24638200-24648600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:24638800-24643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:24639200-24645800	Weak transcription	Osteobl	bone
19	chr14:24640200-24642800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:24640400-24642600	Flanking Active TSS	Fetal Thymus	thymus
21	chr14:24640600-24642400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr14:24640600-24642400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr14:24640600-24642400	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr14:24640600-24642600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:24640600-24642600	Active TSS	Fetal Kidney	kidney
26	chr14:24640800-24642400	Active TSS	Fetal Intestine Large	intestine
27	chr14:24640800-24642600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr14:24640800-24642800	Strong transcription	NHLF	lung
29	chr14:24641200-24645800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:24641200-24647800	Strong transcription	Liver	Liver
31	chr14:24641400-24642400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr14:24641400-24642400	Strong transcription	A549	lung
33	chr14:24641400-24642600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:24641400-24642800	Strong transcription	NHEK	skin
35	chr14:24641400-24643000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
36	chr14:24641400-24647600	Weak transcription	Psoas Muscle	Psoas
37	chr14:24641400-24648200	Weak transcription	Left Ventricle	heart
38	chr14:24641400-24656000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:24641600-24642400	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr14:24641600-24642400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr14:24641600-24642400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr14:24641600-24642800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:24641600-24642800	Strong transcription	Colonic Mucosa	Colon
44	chr14:24641600-24642800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr14:24641600-24642800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
46	chr14:24641600-24644600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:24641600-24646000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:24641600-24646000	Weak transcription	Ovary	ovary
49	chr14:24641600-24646200	Weak transcription	Esophagus	oesophagus
50	chr14:24641600-24648400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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