Variant report

Variant	rs536316929
Chromosome Location	chr14:24641551-24641552
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr14:24640734-24641593	GM12878	blood:	n/a	chr14:24641344-24641355
2	MAX	chr14:24640722-24642009	H1-hESC	embryonic stem cell:	n/a	chr14:24641499-24641518 chr14:24641502-24641515 chr14:24641504-24641513
3	SIN3A	chr14:24640784-24642060	H1-hESC	embryonic stem cell:	n/a	chr14:24641668-24641682
4	E2F6	chr14:24640719-24641849	H1-hESC	embryonic stem cell:	n/a	chr14:24641831-24641845 chr14:24641834-24641849
5	POLR2A	chr14:24640714-24642559	Hela-S3	cervix:	n/a	n/a
6	POU2F2	chr14:24640643-24641567	GM12878	blood:	n/a	n/a
7	BCLAF1	chr14:24640632-24641617	GM12878	blood:	n/a	n/a
8	YY1	chr14:24640768-24641583	GM12878	blood:	n/a	chr14:24641318-24641329 chr14:24641229-24641237
9	NFATC1	chr14:24640676-24641939	GM12878	blood:	n/a	n/a
10	ELF1	chr14:24640506-24641625	GM12878	blood:	n/a	n/a
11	POLR2A	chr14:24640902-24642906	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr14:24640454-24642983	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:24640629-24641824	GM19099	blood:	n/a	n/a
14	BCLAF1	chr14:24640631-24641848	GM12878	blood:	n/a	n/a
15	USF1	chr14:24641305-24641731	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr14:24640767-24641930	SK-N-SH	brain:	n/a	chr14:24641499-24641518 chr14:24641502-24641515 chr14:24641504-24641513
17	MAX	chr14:24640785-24641594	GM12878	blood:	n/a	chr14:24641499-24641518 chr14:24641502-24641515 chr14:24641504-24641513
18	CHD2	chr14:24640687-24641790	H1-hESC	embryonic stem cell:	n/a	n/a
19	CREB1	chr14:24640764-24641602	GM12878	blood:	n/a	n/a
20	NFATC1	chr14:24640575-24641959	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:24640712-24641723	GM12878	blood:	n/a	n/a
22	MTA3	chr14:24640507-24641950	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:24641184-24641587	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:24641247-24642944	A549	lung:	n/a	n/a
25	MYC	chr14:24641312-24641563	H1-hESC	embryonic stem cell:	n/a	chr14:24641499-24641518 chr14:24641502-24641515 chr14:24641504-24641513
26	POLR2A	chr14:24640638-24642869	GM19193	blood:	n/a	n/a
27	POU2F2	chr14:24640660-24642034	GM12891	blood:	n/a	n/a
28	POLR2A	chr14:24640718-24641580	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr14:24640676-24641948	GM12878	blood:	n/a	n/a
30	USF1	chr14:24641329-24641613	SK-N-SH_RA	brain:	n/a	n/a
31	USF1	chr14:24641352-24641736	SK-N-SH	brain:	n/a	n/a
32	ATF2	chr14:24640618-24641602	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:24639375-24643075	GM12891	blood:	n/a	n/a
34	BCL3	chr14:24640733-24641634	GM12878	blood:	n/a	n/a
35	POU2F2	chr14:24640558-24641905	GM12891	blood:	n/a	n/a
36	EBF1	chr14:24640801-24641613	GM12878	blood:	n/a	chr14:24641344-24641355
37	POLR2A	chr14:24639429-24641812	GM12891	blood:	n/a	n/a
38	POLR2A	chr14:24640652-24641603	GM18951	blood:	n/a	n/a
39	NFIC	chr14:24640695-24641783	GM12878	blood:	n/a	n/a
40	POLR2A	chr14:24639969-24643029	GM12891	blood:	n/a	n/a
41	POU2F2	chr14:24640797-24641557	GM12878	blood:	n/a	n/a
42	POLR2A	chr14:24640569-24643031	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr14:24641041-24641705	H1-hESC	embryonic stem cell:	n/a	chr14:24641499-24641518 chr14:24641502-24641515 chr14:24641504-24641513
44	MXI1	chr14:24640504-24642708	SK-N-SH	brain:	n/a	n/a
45	FOXM1	chr14:24640664-24641807	GM12878	blood:	n/a	n/a
46	EP300	chr14:24640548-24642714	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr14:24638137-24643601	GM12892	blood:	n/a	n/a
48	STAT5A	chr14:24640654-24642079	GM12878	blood:	n/a	chr14:24640865-24640877
49	STAT5A	chr14:24640649-24641647	GM12878	blood:	n/a	chr14:24640865-24640877
50	E2F6	chr14:24640756-24641645	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24641501-24641551	HEK293	kidney:	embryo
2	chr14:24641501-24641551	SK-N-MC	brain:	n/a
3	chr14:24641501-24641551	HRE	kidney:	n/a
4	chr14:24641501-24641551	HepG2	liver:	n/a
5	chr14:24641501-24641551	Caco-2	colon:	n/a
6	chr14:24641501-24641551	BJ	skin:	n/a
7	chr14:24641501-24641551	SK-N-SH	brain:	n/a
8	chr14:24641501-24641551	GM12878	blood:	n/a
9	chr14:24641501-24641551	NHBE	bronchial:	n/a
10	chr14:24641501-24641551	NB4	blood:	n/a
11	chr14:24641501-24641551	HEEpiC	esophagus:	n/a
12	chr14:24641501-24641551	HCPEpiC	choroid plexus:	n/a
13	chr14:24641501-24641551	LNCaP	prostate:	n/a
14	chr14:24641501-24641551	MCF10A-Er-Src	breast:	n/a
15	chr14:24641501-24641551	CMK	blood:	n/a
16	chr14:24641501-24641551	HRPEpiC	eye:	n/a
17	chr14:24641501-24641551	NH-A	brain:	n/a
18	chr14:24641501-24641551	BE2_C	brain:	n/a
19	chr14:24641501-24641551	RPTEC	kidney:	n/a
20	chr14:24641501-24641551	SKMC	muscle:	n/a
21	chr14:24641501-24641551	H1-hESC	embryonic stem cell:	embryo
22	chr14:24641501-24641551	HUVEC	blood vessel:	n/a
23	chr14:24641501-24641551	AG09309	skin:	n/a
24	chr14:24641501-24641551	HL-60	blood:	n/a
25	chr14:24641501-24641551	AG04450	lung:	fetal
26	chr14:24641501-24641551	HCM	heart:	n/a
27	chr14:24641501-24641551	NHDF-neo	bronchial:	n/a
28	chr14:24641501-24641551	AG10803	skin:	n/a
29	chr14:24641501-24641551	HAEpiC	amniotic membrane:	n/a
30	chr14:24641501-24641551	T-47D	breast:	n/a
31	chr14:24641501-24641551	AG09319	gingival:	n/a
32	chr14:24641501-24641551	HNPCEpiC	eye:	n/a
33	chr14:24641501-24641551	SK-N-SH_RA	brain:	n/a
34	chr14:24641501-24641551	GM12891	blood:	n/a
35	chr14:24641501-24641551	HMEC	breast:	n/a
36	chr14:24641501-24641551	SAEC	small airway:	n/a
37	chr14:24641501-24641551	A549	lung:	n/a
38	chr14:24641501-24641551	AG04449	skin:	fetal
39	chr14:24641501-24641551	MCF-7	breast:	n/a
40	chr14:24641501-24641551	ProgFib	skin:	n/a
41	chr14:24641501-24641551	GM12892	blood:	n/a
42	chr14:24641501-24641551	PFSK-1	brain:	n/a
43	chr14:24641501-24641551	NT2-D1	testis:	n/a
44	chr14:24641501-24641551	PrEC	prostate:	n/a
45	chr14:24641501-24641551	HPAEpiC	pulmonary alveolar:	n/a
46	chr14:24641501-24641551	U87	brain:	n/a
47	chr14:24641501-24641551	GM19239	blood:	n/a
48	chr14:24641501-24641551	Hela-S3	cervix:	n/a
49	chr14:24641501-24641551	IMR90	lung:	fetal
50	chr14:24641501-24641551	ovcar-3	ovarian:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24631879..24637788-chr14:24639506..24644553,5	K562	blood:
2	chr14:24641149..24643201-chr14:24656538..24659107,2	K562	blood:
3	chr14:24582038..24584525-chr14:24638691..24642019,3	MCF-7	breast:
4	chr14:24639747..24642550-chr14:24651922..24653711,2	K562	blood:
5	chr14:24628958..24631680-chr14:24640156..24642572,2	K562	blood:
6	chr14:24640332..24642740-chr14:24644969..24648486,4	K562	blood:
7	chr14:24526357..24527984-chr14:24640632..24642546,2	MCF-7	breast:
8	chr14:24628913..24631680-chr14:24639494..24642572,3	K562	blood:

No data

Variant related genes	Relation type
REC8	TF binding region
REC8	CpG island
ENSG00000100897	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000100918	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000186648	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:127 , 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	chr14:24636600-24642200	Weak transcription	Hela-S3	cervix
7	chr14:24636600-24646000	Weak transcription	Small Intestine	intestine
8	chr14:24636600-24647400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:24637000-24648000	Weak transcription	HSMM	muscle
10	chr14:24637000-24648200	Weak transcription	HSMMtube	muscle
11	chr14:24637200-24644400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:24637200-24645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:24637200-24645800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:24637200-24646000	Weak transcription	HepG2	liver
15	chr14:24637200-24648000	Weak transcription	Aorta	Aorta
16	chr14:24638200-24648600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:24638200-24648600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:24638800-24643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:24639200-24645800	Weak transcription	Osteobl	bone
20	chr14:24639600-24641600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:24639800-24641600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:24639800-24642000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:24640200-24641800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:24640200-24642000	Active TSS	Brain Germinal Matrix	brain
25	chr14:24640200-24642800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:24640400-24641600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:24640400-24641600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr14:24640400-24642000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr14:24640400-24642600	Flanking Active TSS	Fetal Thymus	thymus
30	chr14:24640600-24641600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:24640600-24641600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:24640600-24641600	Active TSS	Brain Cingulate Gyrus	brain
33	chr14:24640600-24641600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:24640600-24641600	Active TSS	Colon Smooth Muscle	Colon
35	chr14:24640600-24641600	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr14:24640600-24641600	Flanking Active TSS	Right Ventricle	heart
37	chr14:24640600-24641600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr14:24640600-24641800	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr14:24640600-24641800	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr14:24640600-24641800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr14:24640600-24641800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr14:24640600-24641800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:24640600-24641800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr14:24640600-24641800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr14:24640600-24641800	Flanking Active TSS	Spleen	Spleen
46	chr14:24640600-24642000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr14:24640600-24642000	Active TSS	H9 Cell Line	embryonic stem cell
48	chr14:24640600-24642000	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr14:24640600-24642000	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr14:24640600-24642000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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