Variant report

Variant	nsv983803
Chromosome Location	chr14:21701353-21702488
allele	n/a
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	CEBPB	chr14:21702038-21702213	HepG2	liver:	n/a	n/a
2	CTCF	chr14:21701660-21701810	GM12871	blood:	n/a	chr14:21701792-21701800
3	CTCF	chr14:21701700-21701850	HMEC	breast:	n/a	chr14:21701792-21701800
4	CTCF	chr14:21701716-21701887	HepG2	liver:	n/a	chr14:21701792-21701800
5	CTCF	chr14:21701720-21701870	GM12873	blood:	n/a	chr14:21701792-21701800
6	CTCF	chr14:21701660-21701810	Caco-2	colon:	n/a	chr14:21701792-21701800
7	CTCF	chr14:21701740-21701890	HFF-Myc	foreskin:	n/a	chr14:21701792-21701800
8	CTCF	chr14:21701660-21701810	HRE	kidney:	n/a	chr14:21701792-21701800
9	CTCF	chr14:21701680-21701830	A549	lung:	n/a	chr14:21701792-21701800
10	CTCF	chr14:21701760-21701910	SK-N-SH_RA	brain:	n/a	chr14:21701792-21701800
11	CTCF	chr14:21701800-21701950	GM12878	blood:	n/a	n/a
12	CTCF	chr14:21701698-21701926	HepG2	liver:	n/a	chr14:21701792-21701800
13	CTCF	chr14:21701720-21701870	GM12867	blood:	n/a	chr14:21701792-21701800
14	CTCF	chr14:21701740-21701890	AG04450	lung:	n/a	chr14:21701792-21701800
15	CTCF	chr14:21701700-21701850	AG04450	lung:	n/a	chr14:21701792-21701800
16	CTCF	chr14:21701670-21701917	MCF-7	breast:	n/a	chr14:21701792-21701800
17	CTCF	chr14:21701760-21701910	HVMF	connective:	n/a	chr14:21701792-21701800
18	CTCF	chr14:21701706-21701896	ProgFib	skin:	n/a	chr14:21701792-21701800
19	CTCF	chr14:21701639-21701955	GM12878	blood:	n/a	chr14:21701792-21701800
20	CTCF	chr14:21701620-21701770	HFF	foreskin:	n/a	n/a
21	CTCF	chr14:21701720-21701870	GM12872	blood:	n/a	chr14:21701792-21701800
22	CTCF	chr14:21701740-21701890	A549	lung:	n/a	chr14:21701792-21701800
23	CTCF	chr14:21701674-21701836	SK-N-SH_RA	brain:	n/a	chr14:21701792-21701800
24	CTCF	chr14:21701680-21701830	NHLF	lung:	n/a	chr14:21701792-21701800
25	CTCF	chr14:21701680-21701830	K562	blood:	n/a	chr14:21701792-21701800
26	CTCF	chr14:21701640-21701790	HEK293	kidney:	n/a	n/a
27	CTCF	chr14:21701693-21701889	Gliobla	brain:	n/a	chr14:21701792-21701800
28	CTCF	chr14:21701600-21701750	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr14:21701780-21701930	GM12874	blood:	n/a	chr14:21701792-21701800
30	CTCF	chr14:21701820-21701970	WI-38	lung:	n/a	n/a
31	CTCF	chr14:21701753-21701826	Pancreas_OC	pancreas:	n/a	chr14:21701792-21701800
32	CTCF	chr14:21701705-21701873	H1-hESC	embryonic stem cell:	n/a	chr14:21701792-21701800
33	CTCF	chr14:21701720-21701870	MCF-7	breast:	n/a	chr14:21701792-21701800
34	CTCF	chr14:21701740-21701890	GM12873	blood:	n/a	chr14:21701792-21701800
35	CTCF	chr14:21701680-21701830	HPAF	blood vessel:	n/a	chr14:21701792-21701800
36	CTCF	chr14:21701740-21701890	WERI-Rb-1	eye:	n/a	chr14:21701792-21701800
37	CTCF	chr14:21701820-21701970	HCT-116	colon:	n/a	n/a
38	CTCF	chr14:21701720-21701870	Hela-S3	cervix:	n/a	chr14:21701792-21701800
39	CTCF	chr14:21701720-21701870	AG09319	gingival:	n/a	chr14:21701792-21701800
40	CTCF	chr14:21701660-21701810	HEEpiC	esophagus:	n/a	chr14:21701792-21701800
41	CTCF	chr14:21701760-21701910	HCM	heart:	n/a	chr14:21701792-21701800
42	CTCF	chr14:21701600-21701750	BJ	skin:	n/a	n/a
43	CTCF	chr14:21701742-21701875	GM10248	blood:	n/a	chr14:21701792-21701800
44	CTCF	chr14:21702169-21702214	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr14:21701740-21701890	RPTEC	kidney:	n/a	chr14:21701792-21701800
46	CTCF	chr14:21701680-21701830	AoAF	blood vessel:	n/a	chr14:21701792-21701800
47	CTCF	chr14:21701720-21701870	BJ	skin:	n/a	chr14:21701792-21701800
48	CTCF	chr14:21701660-21701810	HMF	breast:	n/a	chr14:21701792-21701800
49	CTCF	chr14:21701700-21701850	AG09319	gingival:	n/a	chr14:21701792-21701800
50	CTCF	chr14:21701700-21701850	HPAF	blood vessel:	n/a	chr14:21701792-21701800

No.	Distal block	Cell Line	Cell type
1	chr14:21701295..21703897-chr14:21842847..21844816,2	K562	blood:
2	chr14:21701373..21707828-chr14:21708039..21714266,10	K562	blood:
3	chr14:21702039..21704805-chr14:21710008..21711834,2	MCF-7	breast:
4	chr14:21702152..21704976-chr14:21712747..21715545,2	MCF-7	breast:
5	chr14:21700872..21703141-chr14:21723886..21726612,2	K562	blood:
6	chr14:21694684..21697867-chr14:21700846..21706348,4	MCF-7	breast:
7	chr14:21700378..21702346-chr14:21819126..21821504,2	MCF-7	breast:
8	chr14:21698449..21701323-chr14:21702052..21705538,3	MCF-7	breast:

Variant related genes	Relation type
HNRNPC	TF binding region
ENSG00000092199	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576151903	chr14:21701366-21701367	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs543518908	chr14:21701378-21701379	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs76691950	chr14:21701410-21701411	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs140668307	chr14:21701434-21701435	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs145848749	chr14:21701442-21701443	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs554200787	chr14:21701445-21701446	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182614530	chr14:21701469-21701470	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs186462603	chr14:21701484-21701485	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs556327967	chr14:21701516-21701517	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs570188794	chr14:21701518-21701519	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs576360040	chr14:21701522-21701523	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs565364982	chr14:21701537-21701538	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs537697609	chr14:21701548-21701549	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs138339018	chr14:21701559-21701560	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs191308069	chr14:21701560-21701561	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs574339601	chr14:21701578-21701579	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539960038	chr14:21701579-21701580	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs560145663	chr14:21701603-21701604	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs555933995	chr14:21701688-21701689	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs577517186	chr14:21701692-21701693	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs149553573	chr14:21701693-21701694	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs546056354	chr14:21701697-21701698	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs562650985	chr14:21701700-21701701	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs531661129	chr14:21701712-21701713	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs577198407	chr14:21701733-21701734	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs375302908	chr14:21701744-21701745	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs552947780	chr14:21701761-21701762	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs548472653	chr14:21701785-21701786	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs144251563	chr14:21701789-21701790	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs527639689	chr14:21701801-21701802	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs182323845	chr14:21701836-21701837	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs148319445	chr14:21701838-21701839	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs539531832	chr14:21701889-21701890	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs201977775	chr14:21701902-21701903	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs143158041	chr14:21701931-21701932	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs371534696	chr14:21701960-21701961	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs147402744	chr14:21702000-21702001	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs555598654	chr14:21702027-21702028	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs200104559	chr14:21702056-21702057	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs189031489	chr14:21702066-21702067	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs200061111	chr14:21702077-21702078	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs368758920	chr14:21702093-21702094	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs201671717	chr14:21702098-21702099	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs35074821	chr14:21702146-21702147	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs117138992	chr14:21702191-21702192	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs560132101	chr14:21702239-21702240	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs139624211	chr14:21702251-21702252	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs201225619	chr14:21702267-21702268	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs367883394	chr14:21702278-21702279	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs11559128	chr14:21702300-21702301	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	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
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
Schizophrenia	20967226	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Neuroblastoma	19536264	CNVD
Schizophrenia	23813976	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21670800-21702400	Strong transcription	Fetal Muscle Trunk	muscle
2	chr14:21671200-21732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:21672400-21709000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:21672600-21703000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:21672800-21709000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:21672800-21725200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:21673000-21702600	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:21673000-21702800	Strong transcription	Fetal Intestine Large	intestine
9	chr14:21673200-21709200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr14:21673600-21706000	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr14:21677800-21727000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:21681000-21714000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr14:21682400-21703400	Strong transcription	Fetal Muscle Leg	muscle
14	chr14:21684000-21702600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:21684400-21705200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr14:21685600-21702400	Strong transcription	Thymus	Thymus
17	chr14:21685800-21703400	Strong transcription	GM12878-XiMat	blood
18	chr14:21686200-21702600	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr14:21686400-21704400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:21687600-21706400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:21687600-21723200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:21688200-21712800	Strong transcription	HMEC	breast
23	chr14:21688200-21725200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:21688400-21704200	Strong transcription	HSMM	muscle
25	chr14:21688400-21712800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:21688600-21702400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:21688600-21707000	Strong transcription	Placenta	Placenta
28	chr14:21689000-21702600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:21689200-21701800	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr14:21689400-21703400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:21689600-21702400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:21689600-21704600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:21689600-21723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:21689600-21725000	Strong transcription	NHEK	skin
35	chr14:21689800-21701600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:21689800-21701600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:21689800-21709200	Strong transcription	Hela-S3	cervix
38	chr14:21689800-21716200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:21690000-21702200	Weak transcription	Stomach Mucosa	stomach
40	chr14:21690000-21703000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:21690200-21705600	Weak transcription	Small Intestine	intestine
42	chr14:21691400-21703800	Strong transcription	HepG2	liver
43	chr14:21691600-21704600	Strong transcription	HUVEC	blood vessel
44	chr14:21692000-21701600	Strong transcription	Osteobl	bone
45	chr14:21692000-21703000	Strong transcription	HSMMtube	muscle
46	chr14:21692000-21730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:21692200-21702800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:21693000-21704200	Strong transcription	NH-A	brain
49	chr14:21693800-21702800	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr14:21694200-21702200	Strong transcription	Fetal Brain Female	brain

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