Variant report

Variant	nsv826912
Chromosome Location	chr14:32670839-32671283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:256)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:32670008-32673683	HepG2	liver:	n/a	chr14:32671605-32671621
2	ATF3	chr14:32670668-32671643	A549	lung:	n/a	n/a
3	ATF3	chr14:32670281-32671599	HepG2	liver:	n/a	n/a
4	ATF3	chr14:32670988-32671550	K562	blood:	n/a	n/a
5	ATF3	chr14:32670995-32671591	A549	lung:	n/a	n/a
6	BACH1	chr14:32670876-32671102	H1-hESC	embryonic stem cell:	n/a	n/a
7	BDP1	chr14:32670993-32671411	K562	blood:	n/a	n/a
8	BHLHE40	chr14:32669994-32671863	HepG2	liver:	n/a	n/a
9	BHLHE40	chr14:32670560-32671261	K562	blood:	n/a	n/a
10	BHLHE40	chr14:32670781-32671142	HepG2	liver:	n/a	n/a
11	BHLHE40	chr14:32670828-32671136	GM12878	blood:	n/a	n/a
12	BRCA1	chr14:32670998-32671029	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr14:32670215-32671421	HepG2	liver:	n/a	n/a
14	BRF2	chr14:32671023-32671417	K562	blood:	n/a	n/a
15	BRF2	chr14:32671043-32671420	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr14:32670449-32670923	HepG2	liver:	n/a	n/a
17	CEBPB	chr14:32670038-32671540	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr14:32671215-32671548	HepG2	liver:	n/a	n/a
19	CEBPB	chr14:32671161-32671589	A549	lung:	n/a	n/a
20	CEBPB	chr14:32671240-32671564	K562	blood:	n/a	n/a
21	CEBPD	chr14:32670375-32671305	HepG2	liver:	n/a	n/a
22	CEBPD	chr14:32670281-32671345	HepG2	liver:	n/a	n/a
23	CHD2	chr14:32670296-32671128	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr14:32670708-32670893	K562	blood:	n/a	n/a
25	CHD2	chr14:32670261-32671844	HepG2	liver:	n/a	n/a
26	CHD2	chr14:32669633-32670995	GM12878	blood:	n/a	n/a
27	CREB1	chr14:32669939-32673704	HepG2	liver:	n/a	n/a
28	CTCF	chr14:32670780-32670930	HCPEpiC	choroid plexus:	n/a	chr14:32670809-32670816
29	E2F4	chr14:32670897-32671077	MCF10A-Er-Src	breast:	n/a	chr14:32670978-32670988
30	E2F6	chr14:32670836-32670998	K562	blood:	n/a	chr14:32670978-32670988
31	E2F6	chr14:32670211-32671780	A549	lung:	n/a	chr14:32670496-32670505 chr14:32670978-32670988
32	E2F6	chr14:32670278-32671611	K562	blood:	n/a	chr14:32670496-32670505 chr14:32670978-32670988
33	ELF1	chr14:32670218-32671304	HepG2	liver:	n/a	n/a
34	EP300	chr14:32671017-32671438	GM12878	blood:	n/a	n/a
35	EP300	chr14:32670207-32671162	HepG2	liver:	n/a	n/a
36	FOXA1	chr14:32670308-32671384	HepG2	liver:	n/a	n/a
37	FOXA1	chr14:32670211-32671997	HepG2	liver:	n/a	n/a
38	FOXA2	chr14:32669929-32671226	HepG2	liver:	n/a	n/a
39	FOXA2	chr14:32670870-32671343	A549	lung:	n/a	n/a
40	GATA2	chr14:32670370-32673426	SH-SY5Y	brain:	n/a	chr14:32672553-32672563 chr14:32671863-32671873
41	GATA3	chr14:32670215-32670983	T-47D	breast:	n/a	n/a
42	GTF2F1	chr14:32670109-32671364	Hela-S3	cervix:	n/a	n/a
43	HCFC1	chr14:32670483-32671379	K562	blood:	n/a	n/a
44	HDAC2	chr14:32670112-32671645	MCF-7	breast:	n/a	chr14:32670545-32670564
45	HDAC2	chr14:32670159-32671734	HepG2	liver:	n/a	chr14:32670545-32670564
46	HDAC2	chr14:32670163-32672953	HepG2	liver:	n/a	chr14:32671861-32671880 chr14:32670545-32670564
47	HEY1	chr14:32669934-32671610	HepG2	liver:	n/a	n/a
48	HEY1	chr14:32669955-32671487	HepG2	liver:	n/a	n/a
49	HMGN3	chr14:32670406-32671082	K562	blood:	n/a	n/a
50	HNF4A	chr14:32670263-32671120	HepG2	liver:	n/a	chr14:32670806-32670821 chr14:32670706-32670718

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:32671021-32671071	AG04450	lung:	fetal
2	chr14:32671021-32671071	HRE	kidney:	n/a
3	chr14:32671021-32671071	GM12878	blood:	n/a
4	chr14:32671021-32671071	HAEpiC	amniotic membrane:	n/a
5	chr14:32671021-32671071	Hela-S3	cervix:	n/a
6	chr14:32671021-32671071	NHDF-neo	bronchial:	n/a
7	chr14:32671021-32671071	ovcar-3	ovarian:	n/a
8	chr14:32671021-32671071	BE2_C	brain:	n/a
9	chr14:32671021-32671071	HCPEpiC	choroid plexus:	n/a
10	chr14:32671021-32671071	HCF	heart:	n/a
11	chr14:32671021-32671071	HUVEC	blood vessel:	n/a
12	chr14:32671021-32671071	SKMC	muscle:	n/a
13	chr14:32671021-32671071	SK-N-SH	brain:	n/a
14	chr14:32671021-32671071	GM12892	blood:	n/a
15	chr14:32671021-32671071	NB4	blood:	n/a
16	chr14:32671021-32671071	HEEpiC	esophagus:	n/a
17	chr14:32671021-32671071	PrEC	prostate:	n/a
18	chr14:32671021-32671071	AG09319	gingival:	n/a
19	chr14:32671021-32671071	GM19239	blood:	n/a
20	chr14:32671021-32671071	HRPEpiC	eye:	n/a
21	chr14:32671021-32671071	U87	brain:	n/a
22	chr14:32671021-32671071	K562	blood:	n/a
23	chr14:32671021-32671071	ECC-1	luminal epithelium:	n/a
24	chr14:32671021-32671071	CMK	blood:	n/a
25	chr14:32671021-32671071	HEK293	kidney:	embryo
26	chr14:32671021-32671071	HL-60	blood:	n/a
27	chr14:32671021-32671071	GM12891	blood:	n/a
28	chr14:32671021-32671071	HepG2	liver:	n/a
29	chr14:32671021-32671071	MCF10A-Er-Src	breast:	n/a
30	chr14:32671021-32671071	BJ	skin:	n/a
31	chr14:32671021-32671071	MCF-7	breast:	n/a
32	chr14:32671021-32671071	HCM	heart:	n/a
33	chr14:32671021-32671071	Caco-2	colon:	n/a
34	chr14:32671021-32671071	NT2-D1	testis:	n/a
35	chr14:32671021-32671071	HMEC	breast:	n/a
36	chr14:32671021-32671071	SK-N-SH_RA	brain:	n/a
37	chr14:32671021-32671071	NHBE	bronchial:	n/a
38	chr14:32671021-32671071	PFSK-1	brain:	n/a
39	chr14:32671021-32671071	Hepatocyte	liver:	n/a
40	chr14:32671021-32671071	AG09309	skin:	n/a
41	chr14:32671021-32671071	HCT-116	colon:	n/a
42	chr14:32671021-32671071	AG10803	skin:	n/a
43	chr14:32671021-32671071	A549	lung:	n/a
44	chr14:32671021-32671071	NH-A	brain:	n/a
45	chr14:32671021-32671071	H1-hESC	embryonic stem cell:	embryo
46	chr14:32671021-32671071	AG04449	skin:	fetal
47	chr14:32671021-32671071	PANC-1	pancreas:	n/a
48	chr14:32671021-32671071	SK-N-MC	brain:	n/a
49	chr14:32671021-32671071	HPAEpiC	pulmonary alveolar:	n/a
50	chr14:32671021-32671071	IMR90	lung:	fetal

(count:3 , 50 per page) page: 1

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf126-5	chr14:32671112-32671152	XLOC_010989

No data

Variant related genes	Relation type
RNU6-7	TF binding region
RNU6-7	CpG island
ENSG00000100852	chromatin interactions
ENSG00000258655	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369041759	chr14:32670861-32670862	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs570999118	chr14:32670867-32670868	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs551969853	chr14:32670941-32670942	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs563926335	chr14:32670946-32670947	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs372797253	chr14:32670965-32670966	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs532499872	chr14:32670985-32670986	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs565695247	chr14:32671076-32671077	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs1958367	chr14:32671080-32671081	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566107406	chr14:32671100-32671101	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs1958366	chr14:32671106-32671107	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114035724	chr14:32671130-32671131	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs148140529	chr14:32671146-32671147	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs537703354	chr14:32671153-32671154	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs117383792	chr14:32671166-32671167	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs17098553	chr14:32671183-32671184	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs57186873	chr14:32671195-32671196	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs534755417	chr14:32671196-32671197	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs534741159	chr14:32671208-32671209	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs552782489	chr14:32671221-32671222	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs574427961	chr14:32671222-32671223	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs1958365	chr14:32671241-32671242	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563261281	chr14:32671251-32671252	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs575483773	chr14:32671261-32671262	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572874978	chr14:32671283-32671284	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

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	chr14:32669800-32671000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr14:32669800-32671200	Active TSS	Duodenum Mucosa	Duodenum
10	chr14:32669800-32671200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr14:32669800-32671400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr14:32669800-32671400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr14:32669800-32671400	Active TSS	Hela-S3	cervix
14	chr14:32669800-32671400	Active TSS	K562	blood
15	chr14:32669800-32671600	Active TSS	Fetal Intestine Large	intestine
16	chr14:32669800-32671600	Active TSS	Fetal Thymus	thymus
17	chr14:32669800-32671800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr14:32669800-32672400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr14:32669800-32673400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr14:32669800-32673400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr14:32669800-32673400	Active TSS	Fetal Heart	heart
22	chr14:32669800-32673800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:32669800-32673800	Active TSS	Brain Anterior Caudate	brain
24	chr14:32669800-32674000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:32670000-32671200	Active TSS	Colon Smooth Muscle	Colon
26	chr14:32670000-32671200	Active TSS	Fetal Brain Female	brain
27	chr14:32670000-32671200	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr14:32670000-32671200	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr14:32670000-32671400	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr14:32670000-32671400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr14:32670000-32671400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:32670000-32671400	Active TSS	Fetal Stomach	stomach
33	chr14:32670000-32671400	Active TSS	Stomach Smooth Muscle	stomach
34	chr14:32670000-32671400	Bivalent/Poised TSS	HepG2	liver
35	chr14:32670000-32671600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:32670000-32671600	Active TSS	Fetal Intestine Small	intestine
37	chr14:32670000-32672000	Active TSS	NHLF	lung
38	chr14:32670000-32672200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr14:32670000-32672200	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr14:32670000-32672200	Flanking Active TSS	Placenta	Placenta
41	chr14:32670000-32672400	Flanking Bivalent TSS/Enh	Dnd41	blood
42	chr14:32670000-32672400	Flanking Active TSS	HMEC	breast
43	chr14:32670000-32673200	Active TSS	Brain Cingulate Gyrus	brain
44	chr14:32670000-32673200	Active TSS	Thymus	Thymus
45	chr14:32670000-32673400	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr14:32670000-32673400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:32670000-32673400	Active TSS	Fetal Brain Male	brain
48	chr14:32670000-32673400	Active TSS	Fetal Kidney	kidney
49	chr14:32670000-32673400	Active TSS	Left Ventricle	heart
50	chr14:32670000-32673400	Active TSS	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links