Variant report

Variant	rs565446861
Chromosome Location	chr14:24776875-24776876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr14:24776637-24777991	HepG2	liver:	n/a	n/a
2	EP300	chr14:24776869-24777733	HepG2	liver:	n/a	n/a
3	FOXA2	chr14:24776848-24777718	HepG2	liver:	n/a	n/a
4	HNF4A	chr14:24776483-24777679	HepG2	liver:	n/a	chr14:24777192-24777207 chr14:24777224-24777239
5	NFIC	chr14:24776417-24777981	HepG2	liver:	n/a	n/a
6	HEY1	chr14:24776269-24777700	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:24776587-24777713	GM12878	blood:	n/a	n/a
8	CTCF	chr14:24776780-24776930	GM12874	blood:	n/a	n/a
9	RFX5	chr14:24776870-24777627	HepG2	liver:	n/a	n/a
10	RAD21	chr14:24776692-24777666	HepG2	liver:	n/a	n/a
11	JUND	chr14:24776813-24777365	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:24776636-24777875	HepG2	liver:	n/a	n/a
13	HDAC2	chr14:24776399-24777704	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:24776350-24777352	GM12892	blood:	n/a	n/a
15	POLR2A	chr14:24776561-24778176	GM12878	blood:	n/a	n/a
16	POLR2A	chr14:24776231-24777986	HepG2	liver:	n/a	n/a
17	MYBL2	chr14:24776234-24777907	HepG2	liver:	n/a	n/a
18	SP1	chr14:24776626-24777711	HepG2	liver:	n/a	n/a
19	NFIC	chr14:24776350-24777969	HepG2	liver:	n/a	n/a
20	JUND	chr14:24776460-24777806	HepG2	liver:	n/a	n/a
21	POLR2A	chr14:24776425-24777820	Hela-S3	cervix:	n/a	n/a
22	HNF4A	chr14:24776545-24777675	HepG2	liver:	n/a	chr14:24777192-24777207 chr14:24777224-24777239
23	POLR2A	chr14:24776291-24777963	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:24776756-24777052	K562	blood:	n/a	n/a
25	CEBPD	chr14:24776820-24777631	HepG2	liver:	n/a	n/a
26	TAF1	chr14:24776713-24777360	HepG2	liver:	n/a	n/a
27	FOSL2	chr14:24776346-24777953	HepG2	liver:	n/a	n/a
28	POLR2A	chr14:24776794-24777129	GM12878	blood:	n/a	n/a
29	CTCF	chr14:24776691-24777904	A549	lung:	n/a	n/a
30	YY1	chr14:24776415-24777761	HepG2	liver:	n/a	n/a
31	FOSL2	chr14:24776645-24777613	HepG2	liver:	n/a	n/a
32	HNF4A	chr14:24776505-24777701	HepG2	liver:	n/a	chr14:24777192-24777207 chr14:24777224-24777239
33	TCF12	chr14:24776726-24777638	HepG2	liver:	n/a	n/a
34	MAZ	chr14:24776735-24777679	HepG2	liver:	n/a	n/a
35	REST	chr14:24776759-24777622	HepG2	liver:	n/a	n/a
36	ZNF263	chr14:24776582-24777697	HEK293-T-REx	kidney:	n/a	chr14:24776913-24776934
37	ZBTB7A	chr14:24776616-24777382	HepG2	liver:	n/a	n/a
38	POLR2A	chr14:24776416-24777101	K562	blood:	n/a	n/a
39	FOXA1	chr14:24776623-24777673	HepG2	liver:	n/a	n/a
40	HNF4G	chr14:24776199-24777936	HepG2	liver:	n/a	n/a
41	MBD4	chr14:24775819-24778159	HepG2	liver:	n/a	n/a
42	CTCF	chr14:24776860-24777010	GM12868	blood:	n/a	n/a
43	POLR2A	chr14:24776835-24777375	HepG2	liver:	n/a	n/a
44	POLR2A	chr14:24776598-24776991	GM12891	blood:	n/a	n/a
45	EP300	chr14:24776471-24777805	HepG2	liver:	n/a	n/a
46	TEAD4	chr14:24776401-24778070	HepG2	liver:	n/a	n/a
47	POLR2A	chr14:24776297-24778107	GM12892	blood:	n/a	n/a
48	HNF4G	chr14:24776244-24777775	HepG2	liver:	n/a	n/a
49	MXI1	chr14:24776658-24777916	HepG2	liver:	n/a	n/a
50	SIN3AK20	chr14:24776702-24777680	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24682923..24685133-chr14:24776691..24778395,2	MCF-7	breast:
2	chr14:24775299..24777826-chr14:24904340..24907258,3	MCF-7	breast:
3	chr14:24765570..24768951-chr14:24773362..24777339,4	K562	blood:
4	chr14:24774171..24777503-chr14:24780795..24784046,4	K562	blood:
5	chr14:24681591..24684402-chr14:24776273..24778851,2	K562	blood:

No data

Variant related genes	Relation type
LTB4R2	TF binding region
CIDEB	TF binding region
ENSG00000272658	TF binding region
LTB4R	TF binding region
ENSG00000213920	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000254505	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
5	nsv564058	chr14:24771285-24786976	Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
6	nsv901501	chr14:24771285-24793762	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
7	nsv564059	chr14:24776401-24796813	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24770200-24777000	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr14:24770200-24778600	Strong transcription	Fetal Stomach	stomach
3	chr14:24770200-24779400	Weak transcription	Right Atrium	heart
4	chr14:24770400-24777000	Strong transcription	Brain Cingulate Gyrus	brain
5	chr14:24770400-24778800	Weak transcription	Fetal Heart	heart
6	chr14:24770400-24782000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:24770600-24777000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:24770600-24777000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr14:24770600-24777000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:24770600-24777000	Strong transcription	Ovary	ovary
11	chr14:24770600-24777000	Strong transcription	HMEC	breast
12	chr14:24770600-24777200	Strong transcription	Brain Hippocampus Middle	brain
13	chr14:24770600-24777200	Strong transcription	Fetal Muscle Leg	muscle
14	chr14:24770600-24777400	Strong transcription	Colon Smooth Muscle	Colon
15	chr14:24770600-24778000	Strong transcription	Thymus	Thymus
16	chr14:24770600-24781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:24770600-24781800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:24770800-24777000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:24770800-24777000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:24770800-24777000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:24770800-24777000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:24770800-24777000	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:24770800-24777000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:24770800-24777000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:24770800-24777000	Strong transcription	Adipose Nuclei	Adipose
26	chr14:24770800-24777000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr14:24770800-24777200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:24770800-24777200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr14:24770800-24777200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:24770800-24777200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:24770800-24777200	Strong transcription	Right Ventricle	heart
32	chr14:24770800-24777800	Strong transcription	Esophagus	oesophagus
33	chr14:24770800-24779000	Strong transcription	NHLF	lung
34	chr14:24770800-24779200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:24771000-24777000	Strong transcription	Primary T cells from cord blood	blood
36	chr14:24771000-24777000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:24771000-24777000	Strong transcription	Brain Substantia Nigra	brain
38	chr14:24771000-24777000	Strong transcription	Lung	lung
39	chr14:24771000-24777000	Strong transcription	Rectal Smooth Muscle	rectum
40	chr14:24771000-24777000	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:24771000-24777200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr14:24771000-24777200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:24771000-24777200	Strong transcription	NHEK	skin
44	chr14:24771000-24777400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr14:24771000-24778200	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:24771200-24777000	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:24771200-24777600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr14:24771400-24777000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr14:24771400-24777000	Strong transcription	Placenta	Placenta
50	chr14:24771600-24777000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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