Variant report

Variant	nsv826880
Chromosome Location	chr14:21418111-21426800
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	ARID3A	chr14:21423410-21423550	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:21423326-21423702	HepG2	liver:	n/a	chr14:21423498-21423509 chr14:21423498-21423511
3	CEBPB	chr14:21423483-21423531	A549	lung:	n/a	chr14:21423498-21423509 chr14:21423498-21423511
4	CEBPB	chr14:21423324-21423698	HepG2	liver:	n/a	chr14:21423498-21423509 chr14:21423498-21423511
5	CEBPB	chr14:21423391-21423541	Hela-S3	cervix:	n/a	chr14:21423498-21423509 chr14:21423498-21423511
6	CEBPB	chr14:21423250-21423720	HepG2	liver:	n/a	chr14:21423498-21423509 chr14:21423498-21423511
7	CEBPB	chr14:21423393-21423620	HepG2	liver:	n/a	chr14:21423498-21423509 chr14:21423498-21423511
8	CEBPD	chr14:21423329-21423575	HepG2	liver:	n/a	chr14:21423499-21423510
9	EP300	chr14:21423315-21423604	HepG2	liver:	n/a	n/a
10	EP300	chr14:21423290-21423663	HepG2	liver:	n/a	n/a
11	FOS	chr14:21419103-21419285	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr14:21419142-21419214	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXA1	chr14:21423231-21423739	HepG2	liver:	n/a	n/a
14	FOXA2	chr14:21423106-21423705	HepG2	liver:	n/a	n/a
15	GATA1	chr14:21424431-21424844	K562	blood:	n/a	chr14:21424708-21424715 chr14:21424708-21424715 chr14:21424703-21424719 chr14:21424708-21424715 chr14:21424701-21424722
16	GATA2	chr14:21424519-21424797	SH-SY5Y	brain:	n/a	chr14:21424708-21424715 chr14:21424708-21424715 chr14:21424703-21424719 chr14:21424708-21424715 chr14:21424701-21424722
17	HDAC2	chr14:21423317-21423675	HepG2	liver:	n/a	n/a
18	HNF4A	chr14:21423381-21423702	HepG2	liver:	n/a	chr14:21423508-21423523 chr14:21423508-21423523
19	HNF4A	chr14:21423361-21423593	HepG2	liver:	n/a	chr14:21423508-21423523 chr14:21423508-21423523
20	HNF4G	chr14:21423386-21423591	HepG2	liver:	n/a	chr14:21423508-21423523 chr14:21423508-21423523
21	MAX	chr14:21423492-21424014	NB4	blood:	n/a	n/a
22	MYC	chr14:21423348-21424034	NB4	blood:	n/a	n/a
23	NFIC	chr14:21423333-21423634	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:21424244-21424333	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:21423237-21424102	HL-60	blood:	n/a	n/a
26	POLR2A	chr14:21423329-21424051	HL-60	blood:	n/a	n/a
27	RCOR1	chr14:21424613-21424810	K562	blood:	n/a	n/a
28	REST	chr14:21423353-21423963	HL-60	blood:	n/a	n/a
29	SP1	chr14:21423291-21423708	HepG2	liver:	n/a	n/a
30	SPI1	chr14:21417875-21418311	HL-60	blood:	n/a	n/a
31	SPI1	chr14:21417944-21418274	HL-60	blood:	n/a	n/a
32	SPI1	chr14:21423646-21423968	HL-60	blood:	n/a	n/a
33	SPI1	chr14:21423561-21424131	HL-60	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21422605-21422655	Hela-S3	cervix:	n/a
2	chr14:21422965-21423015	HepG2	liver:	n/a
3	chr14:21423769-21423819	Hela-S3	cervix:	n/a
4	chr14:21423837-21423887	SK-N-SH_RA	brain:	n/a
5	chr14:21422205-21422255	NT2-D1	testis:	n/a
6	chr14:21423769-21423819	PrEC	prostate:	n/a
7	chr14:21423684-21423734	GM19239	blood:	n/a
8	chr14:21422205-21422255	A549	lung:	n/a
9	chr14:21423684-21423734	SK-N-SH_RA	brain:	n/a
10	chr14:21422205-21422255	SK-N-SH_RA	brain:	n/a
11	chr14:21423769-21423819	IMR90	lung:	fetal
12	chr14:21423769-21423819	Jurkat	blood:	n/a
13	chr14:21424117-21424167	RPTEC	kidney:	n/a
14	chr14:21422605-21422655	SAEC	small airway:	n/a
15	chr14:21423684-21423734	HCM	heart:	n/a
16	chr14:21424117-21424167	AG04449	skin:	fetal
17	chr14:21422965-21423015	HMEC	breast:	n/a
18	chr14:21423837-21423887	RPTEC	kidney:	n/a
19	chr14:21422965-21423015	K562	blood:	n/a
20	chr14:21424117-21424167	K562	blood:	n/a
21	chr14:21422205-21422255	HCT-116	colon:	n/a
22	chr14:21422965-21423015	HAEpiC	amniotic membrane:	n/a
23	chr14:21422965-21423015	NH-A	brain:	n/a
24	chr14:21423837-21423887	BJ	skin:	n/a
25	chr14:21422965-21423015	HRCEpiC	kidney:	n/a
26	chr14:21422965-21423015	GM19239	blood:	n/a
27	chr14:21422965-21423015	GM12891	blood:	n/a
28	chr14:21423769-21423819	U87	brain:	n/a
29	chr14:21423837-21423887	HUVEC	blood vessel:	n/a
30	chr14:21422205-21422255	IMR90	lung:	fetal
31	chr14:21422965-21423015	GM12878	blood:	n/a
32	chr14:21423837-21423887	AG04449	skin:	fetal
33	chr14:21423684-21423734	GM12878	blood:	n/a
34	chr14:21423684-21423734	HL-60	blood:	n/a
35	chr14:21422205-21422255	AG04450	lung:	fetal
36	chr14:21423684-21423734	HCF	heart:	n/a
37	chr14:21422205-21422255	HRE	kidney:	n/a
38	chr14:21423837-21423887	HRE	kidney:	n/a
39	chr14:21423769-21423819	AG10803	skin:	n/a
40	chr14:21423684-21423734	NB4	blood:	n/a
41	chr14:21423684-21423734	H1-hESC	embryonic stem cell:	embryo
42	chr14:21423769-21423819	AG04449	skin:	fetal
43	chr14:21423684-21423734	PFSK-1	brain:	n/a
44	chr14:21423769-21423819	AG04450	lung:	fetal
45	chr14:21422965-21423015	AG09319	gingival:	n/a
46	chr14:21422205-21422255	AoSMC	blood vessel:	n/a
47	chr14:21422605-21422655	MCF10A-Er-Src	breast:	n/a
48	chr14:21423684-21423734	Caco-2	colon:	n/a
49	chr14:21424117-21424167	HAEpiC	amniotic membrane:	n/a
50	chr14:21423837-21423887	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21417758..21420748-chr14:21423705..21426897,3	MCF-7	breast:
2	chr14:21417758..21420748-chr14:21423705..21426897,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASE2-1	chr14:21419045-21419476	NONHSAT035618
2	lnc-RNASE2-1	chr14:21418698-21418708	NONHSAT035618

Variant related genes	Relation type
RN7SL189P	TF binding region
RNASE2	TF binding region
RN7SL189P	CpG island
RNASE2	CpG island

Extended variants
information (count: 380 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138060503	chr14:21418143-21418144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187070575	chr14:21418181-21418182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143188058	chr14:21418202-21418203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550834139	chr14:21418223-21418224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567593518	chr14:21418330-21418331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192333864	chr14:21418331-21418332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183240197	chr14:21418340-21418341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573334564	chr14:21418353-21418354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79700395	chr14:21418375-21418376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186960997	chr14:21418376-21418377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544508763	chr14:21418406-21418407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554841998	chr14:21418407-21418408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2783799	chr14:21418427-21418428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542177791	chr14:21418456-21418457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556066770	chr14:21418511-21418512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147097774	chr14:21418546-21418547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538843492	chr14:21418558-21418559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533160462	chr14:21418565-21418566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35476844	chr14:21418580-21418581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111312004	chr14:21418597-21418598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564861648	chr14:21418654-21418655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572507894	chr14:21418747-21418748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542716343	chr14:21418761-21418762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530708230	chr14:21418762-21418763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71410254	chr14:21418789-21418790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71416989	chr14:21418790-21418791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550547339	chr14:21418812-21418813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567556152	chr14:21418817-21418818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530025135	chr14:21418948-21418949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546989019	chr14:21418989-21418990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2319612	chr14:21419010-21419011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs113458488	chr14:21419015-21419016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576555502	chr14:21419037-21419038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538692966	chr14:21419044-21419045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558989065	chr14:21419055-21419056	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs569301813	chr14:21419077-21419078	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs538427265	chr14:21419136-21419137	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs190802343	chr14:21419183-21419184	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs574747724	chr14:21419206-21419207	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs182625889	chr14:21419209-21419210	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs187285575	chr14:21419231-21419232	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs372724228	chr14:21419240-21419241	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs75053848	chr14:21419276-21419277	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs543815226	chr14:21419295-21419296	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs564987748	chr14:21419369-21419370	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs530559554	chr14:21419371-21419372	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs544353873	chr14:21419375-21419376	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs79462451	chr14:21419377-21419378	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs561067019	chr14:21419390-21419391	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs191327330	chr14:21419421-21419422	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21412800-21420200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr14:21417800-21418600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr14:21418000-21418400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:21418200-21418400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:21418400-21420200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr14:21418600-21420800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr14:21420000-21423200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr14:21420200-21423200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr14:21420200-21423600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr14:21420800-21422400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr14:21421200-21421600	Enhancers	Fetal Thymus	thymus
12	chr14:21421600-21421800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:21421600-21422400	Weak transcription	Fetal Thymus	thymus
14	chr14:21421800-21423200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:21422400-21422600	Bivalent Enhancer	HepG2	liver
16	chr14:21422400-21422600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr14:21422400-21424000	Enhancers	Liver	Liver
18	chr14:21422400-21425400	Enhancers	Fetal Thymus	thymus
19	chr14:21422600-21423000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr14:21422600-21424400	Enhancers	HepG2	liver
21	chr14:21423000-21423600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:21423000-21424600	Active TSS	Brain Hippocampus Middle	brain
23	chr14:21423000-21424600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr14:21423200-21423800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:21423200-21423800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr14:21423200-21423800	Enhancers	Adipose Nuclei	Adipose
27	chr14:21423200-21424000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:21423200-21424200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr14:21423200-21424200	Enhancers	Primary hematopoietic stem cells	blood
30	chr14:21423200-21424200	Enhancers	Thymus	Thymus
31	chr14:21423400-21424400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:21423600-21423800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr14:21423600-21423800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:21423600-21426400	Enhancers	Primary T cells from cord blood	blood
35	chr14:21423800-21424800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr14:21423800-21424800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr14:21424000-21424800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:21424000-21425600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:21424200-21424800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr14:21424200-21425200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr14:21424400-21429200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:21424600-21424800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr14:21424600-21429000	Weak transcription	Brain Hippocampus Middle	brain
44	chr14:21424800-21427000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:21424800-21428000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:21425200-21425400	Enhancers	K562	blood
47	chr14:21425200-21426800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr14:21425600-21428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:21426400-21429200	Weak transcription	Primary T cells from cord blood	blood
50	chr14:21426800-21428200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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