Variant report

Variant	rs202014197
Chromosome Location	chr14:24777073-24777074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 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	POLR2A	chr14:24776907-24777348	HepG2	liver:	n/a	n/a
4	JUN	chr14:24777040-24777394	HepG2	liver:	n/a	n/a
5	FOXA2	chr14:24776848-24777718	HepG2	liver:	n/a	n/a
6	HNF4A	chr14:24776483-24777679	HepG2	liver:	n/a	chr14:24777192-24777207 chr14:24777224-24777239
7	REST	chr14:24776983-24777188	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:24776944-24777359	GM12878	blood:	n/a	n/a
9	SMC3	chr14:24776935-24777709	HepG2	liver:	n/a	n/a
10	MAFK	chr14:24777030-24777459	HepG2	liver:	n/a	n/a
11	NFIC	chr14:24776417-24777981	HepG2	liver:	n/a	n/a
12	TBP	chr14:24776921-24777621	HepG2	liver:	n/a	n/a
13	CEBPD	chr14:24776940-24777406	HepG2	liver:	n/a	n/a
14	HEY1	chr14:24776269-24777700	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:24776587-24777713	GM12878	blood:	n/a	n/a
16	RFX5	chr14:24776870-24777627	HepG2	liver:	n/a	n/a
17	RAD21	chr14:24776692-24777666	HepG2	liver:	n/a	n/a
18	BRCA1	chr14:24776937-24777590	HepG2	liver:	n/a	n/a
19	JUND	chr14:24776813-24777365	HepG2	liver:	n/a	n/a
20	POLR2A	chr14:24776636-24777875	HepG2	liver:	n/a	n/a
21	HDAC2	chr14:24776399-24777704	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:24776350-24777352	GM12892	blood:	n/a	n/a
23	POLR2A	chr14:24776561-24778176	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:24776231-24777986	HepG2	liver:	n/a	n/a
25	MYBL2	chr14:24776234-24777907	HepG2	liver:	n/a	n/a
26	SP1	chr14:24776626-24777711	HepG2	liver:	n/a	n/a
27	NFIC	chr14:24776350-24777969	HepG2	liver:	n/a	n/a
28	JUND	chr14:24776460-24777806	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:24776425-24777820	Hela-S3	cervix:	n/a	n/a
30	HNF4A	chr14:24776545-24777675	HepG2	liver:	n/a	chr14:24777192-24777207 chr14:24777224-24777239
31	CTCF	chr14:24777055-24777761	HepG2	liver:	n/a	n/a
32	CHD2	chr14:24776991-24777659	HepG2	liver:	n/a	n/a
33	CTCF	chr14:24776940-24777090	NHDF-neo	bronchial:	n/a	n/a
34	POLR2A	chr14:24776291-24777963	HepG2	liver:	n/a	n/a
35	CEBPD	chr14:24776820-24777631	HepG2	liver:	n/a	n/a
36	TAF1	chr14:24776713-24777360	HepG2	liver:	n/a	n/a
37	NFATC1	chr14:24777064-24777661	GM12878	blood:	n/a	n/a
38	SMC3	chr14:24777060-24777740	SK-N-SH	brain:	n/a	n/a
39	FOSL2	chr14:24776346-24777953	HepG2	liver:	n/a	n/a
40	POLR2A	chr14:24776794-24777129	GM12878	blood:	n/a	n/a
41	CTCF	chr14:24776691-24777904	A549	lung:	n/a	n/a
42	YY1	chr14:24776415-24777761	HepG2	liver:	n/a	n/a
43	MYC	chr14:24777059-24777075	HepG2	liver:	n/a	n/a
44	FOSL2	chr14:24776645-24777613	HepG2	liver:	n/a	n/a
45	HNF4A	chr14:24776505-24777701	HepG2	liver:	n/a	chr14:24777192-24777207 chr14:24777224-24777239
46	TCF12	chr14:24776726-24777638	HepG2	liver:	n/a	n/a
47	CTCF	chr14:24777000-24777150	HFF	foreskin:	n/a	n/a
48	MAZ	chr14:24776735-24777679	HepG2	liver:	n/a	n/a
49	REST	chr14:24776759-24777622	HepG2	liver:	n/a	n/a
50	ZNF263	chr14:24776582-24777697	HEK293-T-REx	kidney:	n/a	chr14:24776913-24776934

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
CIDEB	TF binding region
LTB4R	TF binding region
LTB4R2	TF binding region
ENSG00000272658	TF binding region
ENSG00000213903	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000254692	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	chr14:24770200-24778600	Strong transcription	Fetal Stomach	stomach
2	chr14:24770200-24779400	Weak transcription	Right Atrium	heart
3	chr14:24770400-24778800	Weak transcription	Fetal Heart	heart
4	chr14:24770400-24782000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:24770600-24777200	Strong transcription	Brain Hippocampus Middle	brain
6	chr14:24770600-24777200	Strong transcription	Fetal Muscle Leg	muscle
7	chr14:24770600-24777400	Strong transcription	Colon Smooth Muscle	Colon
8	chr14:24770600-24778000	Strong transcription	Thymus	Thymus
9	chr14:24770600-24781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:24770600-24781800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:24770800-24777200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:24770800-24777200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:24770800-24777200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:24770800-24777200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:24770800-24777200	Strong transcription	Right Ventricle	heart
16	chr14:24770800-24777800	Strong transcription	Esophagus	oesophagus
17	chr14:24770800-24779000	Strong transcription	NHLF	lung
18	chr14:24770800-24779200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:24771000-24777200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:24771000-24777200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:24771000-24777200	Strong transcription	NHEK	skin
22	chr14:24771000-24777400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr14:24771000-24778200	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr14:24771200-24777600	Strong transcription	Primary hematopoietic stem cells	blood
25	chr14:24771600-24780400	Strong transcription	Dnd41	blood
26	chr14:24773400-24777200	Weak transcription	K562	blood
27	chr14:24773600-24779000	Weak transcription	NHDF-Ad	bronchial
28	chr14:24773800-24779000	Weak transcription	Fetal Brain Male	brain
29	chr14:24774000-24777200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:24774000-24779200	Weak transcription	Psoas Muscle	Psoas
31	chr14:24775200-24778400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr14:24775200-24779400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr14:24775600-24777200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
34	chr14:24775600-24779400	Weak transcription	Osteobl	bone
35	chr14:24775600-24785800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:24775800-24777200	Weak transcription	Fetal Kidney	kidney
37	chr14:24775800-24779200	Weak transcription	Small Intestine	intestine
38	chr14:24775800-24779400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:24775800-24782200	Weak transcription	HSMMtube	muscle
40	chr14:24775800-24784000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:24776000-24779000	Weak transcription	HUVEC	blood vessel
42	chr14:24776000-24779200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:24776000-24779400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:24776000-24779800	Weak transcription	HSMM	muscle
45	chr14:24776000-24783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:24776200-24777200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:24776200-24777200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr14:24776200-24777200	Active TSS	Liver	Liver
49	chr14:24776200-24777600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:24776200-24779400	Weak transcription	Aorta	Aorta

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