Variant report

Variant	rs530629314
Chromosome Location	chr14:32670443-32670444
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:32670206-32671076	Hela-S3	cervix:	n/a	n/a
2	SP1	chr14:32670278-32671453	A549	lung:	n/a	chr14:32670534-32670544 chr14:32670440-32670453 chr14:32670450-32670460 chr14:32670450-32670460 chr14:32670534-32670544
3	RAD21	chr14:32670232-32670787	HepG2	liver:	n/a	n/a
4	FOXA1	chr14:32670207-32670639	T-47D	breast:	n/a	n/a
5	NFIC	chr14:32669857-32673593	HepG2	liver:	n/a	chr14:32670734-32670751
6	MAX	chr14:32669830-32671113	GM12878	blood:	n/a	n/a
7	NFIC	chr14:32670203-32670946	ECC-1	luminal epithelium:	n/a	chr14:32670734-32670751
8	HDAC2	chr14:32670178-32670684	MCF-7	breast:	n/a	chr14:32670545-32670564
9	MAX	chr14:32670160-32671597	ECC-1	luminal epithelium:	n/a	n/a
10	RAD21	chr14:32670160-32671226	HepG2	liver:	n/a	n/a
11	BHLHE40	chr14:32669994-32671863	HepG2	liver:	n/a	n/a
12	TAF1	chr14:32670420-32671073	A549	lung:	n/a	n/a
13	REST	chr14:32670318-32670985	HL-60	blood:	n/a	chr14:32670910-32670923 chr14:32670545-32670565 chr14:32670550-32670559 chr14:32670501-32670519 chr14:32670548-32670561 chr14:32670884-32670893
14	ELF1	chr14:32670218-32671304	HepG2	liver:	n/a	n/a
15	CEBPD	chr14:32670375-32671305	HepG2	liver:	n/a	n/a
16	CHD2	chr14:32670261-32671844	HepG2	liver:	n/a	n/a
17	HNF4A	chr14:32670119-32671566	HepG2	liver:	n/a	chr14:32670144-32670157 chr14:32670144-32670156 chr14:32670143-32670157 chr14:32670141-32670159 chr14:32670806-32670821 chr14:32670144-32670156 chr14:32670143-32670157 chr14:32670706-32670718 chr14:32670143-32670156 chr14:32670144-32670156
18	ZNF143	chr14:32669700-32671377	GM12878	blood:	n/a	chr14:32671007-32671022 chr14:32671004-32671023
19	REST	chr14:32670383-32670731	HepG2	liver:	n/a	chr14:32670545-32670565 chr14:32670550-32670559 chr14:32670501-32670519 chr14:32670548-32670561
20	ZEB1	chr14:32669719-32673848	HepG2	liver:	n/a	n/a
21	REST	chr14:32670386-32670894	GM12878	blood:	n/a	chr14:32670545-32670565 chr14:32670550-32670559 chr14:32670501-32670519 chr14:32670548-32670561 chr14:32670884-32670893
22	RAD21	chr14:32670216-32670587	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr14:32670380-32670530	A549	lung:	n/a	n/a
24	TCF3	chr14:32670318-32670500	GM12878	blood:	n/a	n/a
25	TCF12	chr14:32670008-32673441	A549	lung:	n/a	n/a
26	REST	chr14:32670282-32671069	ECC-1	luminal epithelium:	n/a	chr14:32670910-32670923 chr14:32670545-32670565 chr14:32670550-32670559 chr14:32670501-32670519 chr14:32670548-32670561 chr14:32670884-32670893
27	RFX5	chr14:32670241-32670781	HepG2	liver:	n/a	n/a
28	KAP1	chr14:32670030-32673658	HEK293	kidney:	n/a	n/a
29	REST	chr14:32670313-32670823	Hela-S3	cervix:	n/a	chr14:32670545-32670565 chr14:32670550-32670559 chr14:32670501-32670519 chr14:32670548-32670561
30	REST	chr14:32670319-32671034	HepG2	liver:	n/a	chr14:32670910-32670923 chr14:32670545-32670565 chr14:32670550-32670559 chr14:32670501-32670519 chr14:32670548-32670561 chr14:32670884-32670893
31	NFIC	chr14:32670096-32671945	HepG2	liver:	n/a	chr14:32670734-32670751
32	RAD21	chr14:32670230-32670590	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr14:32669799-32673731	HepG2	liver:	n/a	chr14:32672740-32672750
34	REST	chr14:32670267-32671028	HL-60	blood:	n/a	chr14:32670910-32670923 chr14:32670545-32670565 chr14:32670550-32670559 chr14:32670501-32670519 chr14:32670548-32670561 chr14:32670884-32670893
35	TAF1	chr14:32670288-32671156	HepG2	liver:	n/a	n/a
36	CTCF	chr14:32670360-32670510	SK-N-SH_RA	brain:	n/a	n/a
37	HDAC2	chr14:32670432-32670688	K562	blood:	n/a	chr14:32670545-32670564
38	CREB1	chr14:32669939-32673704	HepG2	liver:	n/a	n/a
39	MAX	chr14:32670021-32671500	Hela-S3	cervix:	n/a	n/a
40	HMGN3	chr14:32670406-32671082	K562	blood:	n/a	n/a
41	REST	chr14:32670407-32670999	PANC-1	pancreas:	n/a	chr14:32670910-32670923 chr14:32670545-32670565 chr14:32670550-32670559 chr14:32670501-32670519 chr14:32670548-32670561 chr14:32670884-32670893
42	SP4	chr14:32670332-32670661	H1-hESC	embryonic stem cell:	n/a	chr14:32670447-32670463
43	TAF1	chr14:32670194-32670687	Hela-S3	cervix:	n/a	n/a
44	SP1	chr14:32670236-32671550	A549	lung:	n/a	chr14:32670450-32670460 chr14:32670440-32670453 chr14:32670450-32670460 chr14:32670534-32670544 chr14:32670534-32670544
45	NR2C2	chr14:32670297-32670895	HepG2	liver:	n/a	n/a
46	FOXA1	chr14:32670211-32671997	HepG2	liver:	n/a	n/a
47	EP300	chr14:32670411-32670611	K562	blood:	n/a	n/a
48	MYC	chr14:32670175-32671390	K562	blood:	n/a	n/a
49	HEY1	chr14:32669934-32671610	HepG2	liver:	n/a	n/a
50	MXI1	chr14:32669911-32671203	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:32670418-32670468	HUVEC	blood vessel:	n/a
2	chr14:32670418-32670468	HPAEpiC	pulmonary alveolar:	n/a
3	chr14:32670418-32670468	Hela-S3	cervix:	n/a
4	chr14:32670418-32670468	AG09319	gingival:	n/a
5	chr14:32670418-32670468	SKMC	muscle:	n/a
6	chr14:32670418-32670468	HCT-116	colon:	n/a
7	chr14:32670418-32670468	SK-N-SH	brain:	n/a
8	chr14:32670418-32670468	H1-hESC	embryonic stem cell:	embryo
9	chr14:32670418-32670468	Caco-2	colon:	n/a
10	chr14:32670418-32670468	NHDF-neo	bronchial:	n/a
11	chr14:32670418-32670468	PANC-1	pancreas:	n/a
12	chr14:32670418-32670468	HCPEpiC	choroid plexus:	n/a
13	chr14:32670418-32670468	Hepatocyte	liver:	n/a
14	chr14:32670418-32670468	HRPEpiC	eye:	n/a
15	chr14:32670418-32670468	IMR90	lung:	fetal
16	chr14:32670418-32670468	CMK	blood:	n/a
17	chr14:32670418-32670468	ProgFib	skin:	n/a
18	chr14:32670418-32670468	SAEC	small airway:	n/a
19	chr14:32670418-32670468	AG04449	skin:	fetal
20	chr14:32670418-32670468	HIPEpiC	eye:	n/a
21	chr14:32670418-32670468	HRE	kidney:	n/a
22	chr14:32670418-32670468	RPTEC	kidney:	n/a
23	chr14:32670418-32670468	HCM	heart:	n/a
24	chr14:32670418-32670468	HAEpiC	amniotic membrane:	n/a
25	chr14:32670418-32670468	HCF	heart:	n/a
26	chr14:32670418-32670468	AG09309	skin:	n/a
27	chr14:32670418-32670468	MCF10A-Er-Src	breast:	n/a
28	chr14:32670418-32670468	K562	blood:	n/a
29	chr14:32670418-32670468	NB4	blood:	n/a
30	chr14:32670418-32670468	LNCaP	prostate:	n/a
31	chr14:32670418-32670468	T-47D	breast:	n/a
32	chr14:32670418-32670468	BJ	skin:	n/a
33	chr14:32670418-32670468	GM12891	blood:	n/a
34	chr14:32670418-32670468	A549	lung:	n/a
35	chr14:32670418-32670468	SK-N-SH_RA	brain:	n/a
36	chr14:32670418-32670468	MCF-7	breast:	n/a
37	chr14:32670418-32670468	NH-A	brain:	n/a
38	chr14:32670418-32670468	HNPCEpiC	eye:	n/a
39	chr14:32670418-32670468	PrEC	prostate:	n/a
40	chr14:32670418-32670468	AG10803	skin:	n/a
41	chr14:32670418-32670468	Jurkat	blood:	n/a
42	chr14:32670418-32670468	HEK293	kidney:	embryo
43	chr14:32670418-32670468	AoSMC	blood vessel:	n/a
44	chr14:32670418-32670468	PFSK-1	brain:	n/a
45	chr14:32670418-32670468	HRCEpiC	kidney:	n/a
46	chr14:32670418-32670468	GM06990	blood:	n/a
47	chr14:32670418-32670468	HEEpiC	esophagus:	n/a
48	chr14:32670418-32670468	SK-N-MC	brain:	n/a
49	chr14:32670418-32670468	U87	brain:	n/a
50	chr14:32670418-32670468	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:32544618..32548147-chr14:32668083..32673759,9	K562	blood:
2	chr14:32665295..32667033-chr14:32668377..32670750,3	K562	blood:
3	chr14:32544948..32548496-chr14:32669195..32673537,9	MCF-7	breast:
4	chr14:32544500..32547770-chr14:32669959..32673759,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf126-5	chr14:32669704-32670732	XLOC_010989

Variant related genes	Relation type
RNU6-7	TF binding region
RNU6-7	CpG island
ENSG00000100852	Chromatin interaction
ENSG00000258655	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832764	chr14:32564468-32723213	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3527777	chr14:32669175-32761850	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3527778	chr14:32669175-32761850	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr14:32669200-32672400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:32669400-32671600	Active TSS	A549	lung
3	chr14:32669400-32672400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr14:32669400-32673600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr14:32669600-32672400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:32669600-32673600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr14:32669600-32674000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr14:32669800-32670600	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr14:32669800-32670600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr14:32669800-32670800	Active TSS	Primary B cells from peripheral blood	blood
11	chr14:32669800-32671000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr14:32669800-32671200	Active TSS	Duodenum Mucosa	Duodenum
13	chr14:32669800-32671200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr14:32669800-32671400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr14:32669800-32671400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr14:32669800-32671400	Active TSS	Hela-S3	cervix
17	chr14:32669800-32671400	Active TSS	K562	blood
18	chr14:32669800-32671600	Active TSS	Fetal Intestine Large	intestine
19	chr14:32669800-32671600	Active TSS	Fetal Thymus	thymus
20	chr14:32669800-32671800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr14:32669800-32672400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr14:32669800-32673400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr14:32669800-32673400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr14:32669800-32673400	Active TSS	Fetal Heart	heart
25	chr14:32669800-32673800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr14:32669800-32673800	Active TSS	Brain Anterior Caudate	brain
27	chr14:32669800-32674000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:32670000-32670600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:32670000-32670800	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:32670000-32670800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:32670000-32670800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr14:32670000-32670800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr14:32670000-32670800	Active TSS	Colonic Mucosa	Colon
34	chr14:32670000-32671200	Active TSS	Colon Smooth Muscle	Colon
35	chr14:32670000-32671200	Active TSS	Fetal Brain Female	brain
36	chr14:32670000-32671200	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr14:32670000-32671200	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr14:32670000-32671400	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr14:32670000-32671400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr14:32670000-32671400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:32670000-32671400	Active TSS	Fetal Stomach	stomach
42	chr14:32670000-32671400	Active TSS	Stomach Smooth Muscle	stomach
43	chr14:32670000-32671400	Bivalent/Poised TSS	HepG2	liver
44	chr14:32670000-32671600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:32670000-32671600	Active TSS	Fetal Intestine Small	intestine
46	chr14:32670000-32672000	Active TSS	NHLF	lung
47	chr14:32670000-32672200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr14:32670000-32672200	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr14:32670000-32672200	Flanking Active TSS	Placenta	Placenta
50	chr14:32670000-32672400	Flanking Bivalent TSS/Enh	Dnd41	blood

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