Variant report

Variant	esv1817794
Chromosome Location	chr16:74427931-74462976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:172)
CpG islands
(count:488)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:172 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr16:74445450-74445698	HepG2	liver:	n/a	n/a
2	CEBPB	chr16:74441969-74442184	K562	blood:	n/a	n/a
3	CEBPD	chr16:74462586-74462902	K562	blood:	n/a	n/a
4	CHD2	chr16:74438089-74438284	K562	blood:	n/a	n/a
5	CTCF	chr16:74458452-74458479	GM10248	blood:	n/a	n/a
6	CTCF	chr16:74448704-74448788	Lung_OC	lung:	n/a	n/a
7	CTCF	chr16:74429054-74429211	GM12892	blood:	n/a	n/a
8	CTCF	chr16:74455158-74455467	A549	lung:	n/a	n/a
9	CTCF	chr16:74429074-74429151	GM19240	blood:	n/a	n/a
10	CTCF	chr16:74459464-74459505	LNCaP	prostate:	n/a	n/a
11	CTCF	chr16:74428940-74429090	GM06990	blood:	n/a	n/a
12	CTCF	chr16:74428900-74429050	GM12866	blood:	n/a	n/a
13	CTCF	chr16:74428920-74429070	GM12865	blood:	n/a	n/a
14	CTCF	chr16:74444705-74444737	LNCaP	prostate:	n/a	n/a
15	CTCF	chr16:74447094-74447128	LNCaP	prostate:	n/a	n/a
16	CTCF	chr16:74438956-74439023	LNCaP	prostate:	n/a	n/a
17	CTCF	chr16:74445043-74445079	LNCaP	prostate:	n/a	n/a
18	CTCF	chr16:74439122-74439203	LNCaP	prostate:	n/a	n/a
19	CTCF	chr16:74447000-74447150	K562	blood:	n/a	n/a
20	CTCF	chr16:74455279-74455397	Gliobla	brain:	n/a	n/a
21	CTCF	chr16:74454473-74454610	Medullo	brain:	n/a	n/a
22	EBF1	chr16:74440725-74441034	GM12878	blood:	n/a	chr16:74440913-74440922
23	EBF1	chr16:74440773-74441308	GM12878	blood:	n/a	chr16:74440913-74440922
24	ELF1	chr16:74430410-74430702	K562	blood:	n/a	n/a
25	EP300	chr16:74462770-74462785	K562	blood:	n/a	n/a
26	FOS	chr16:74438578-74438775	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr16:74460216-74460247	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr16:74460223-74460246	MCF10A-Er-Src	breast:	n/a	n/a
29	FOSL2	chr16:74434922-74435309	HepG2	liver:	n/a	chr16:74435220-74435229 chr16:74435190-74435204
30	FOSL2	chr16:74454923-74455415	HepG2	liver:	n/a	n/a
31	FOSL2	chr16:74438069-74438493	HepG2	liver:	n/a	n/a
32	FOSL2	chr16:74457630-74457912	HepG2	liver:	n/a	n/a
33	FOSL2	chr16:74455704-74456563	HepG2	liver:	n/a	n/a
34	FOSL2	chr16:74453941-74454159	HepG2	liver:	n/a	chr16:74454105-74454116
35	FOSL2	chr16:74456824-74457211	HepG2	liver:	n/a	n/a
36	FOSL2	chr16:74441008-74441430	HepG2	liver:	n/a	n/a
37	FOSL2	chr16:74446232-74446653	HepG2	liver:	n/a	n/a
38	FOSL2	chr16:74434012-74434255	HepG2	liver:	n/a	n/a
39	FOSL2	chr16:74445449-74445672	HepG2	liver:	n/a	n/a
40	FOSL2	chr16:74459816-74460343	HepG2	liver:	n/a	n/a
41	FOSL2	chr16:74454198-74454441	HepG2	liver:	n/a	n/a
42	FOSL2	chr16:74454499-74454739	HepG2	liver:	n/a	chr16:74454673-74454684
43	FOSL2	chr16:74462464-74462906	HepG2	liver:	n/a	chr16:74462746-74462754
44	FOSL2	chr16:74428997-74429323	HepG2	liver:	n/a	n/a
45	FOSL2	chr16:74453378-74453614	HepG2	liver:	n/a	n/a
46	FOSL2	chr16:74459872-74460348	HepG2	liver:	n/a	n/a
47	FOSL2	chr16:74440445-74440873	HepG2	liver:	n/a	chr16:74440707-74440716
48	FOXA1	chr16:74456706-74456962	HepG2	liver:	n/a	n/a
49	GABPA	chr16:74440791-74441356	HepG2	liver:	n/a	n/a
50	GATA2	chr16:74462429-74462967	K562	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:74441639-74441689	K562	blood:	n/a
2	chr16:74455360-74455410	SK-N-SH_RA	brain:	n/a
3	chr16:74455360-74455410	A549	lung:	n/a
4	chr16:74441639-74441689	GM12878	blood:	n/a
5	chr16:74456200-74456250	IMR90	lung:	fetal
6	chr16:74455140-74455190	AG10803	skin:	n/a
7	chr16:74455542-74455592	NHBE	bronchial:	n/a
8	chr16:74455360-74455410	K562	blood:	n/a
9	chr16:74446218-74446268	PrEC	prostate:	n/a
10	chr16:74455360-74455410	H1-hESC	embryonic stem cell:	embryo
11	chr16:74455360-74455410	AoSMC	blood vessel:	n/a
12	chr16:74455448-74455498	Hela-S3	cervix:	n/a
13	chr16:74455360-74455410	IMR90	lung:	fetal
14	chr16:74456200-74456250	PrEC	prostate:	n/a
15	chr16:74455562-74455612	HL-60	blood:	n/a
16	chr16:74455562-74455612	GM06990	blood:	n/a
17	chr16:74455542-74455592	HEEpiC	esophagus:	n/a
18	chr16:74455140-74455190	NH-A	brain:	n/a
19	chr16:74455542-74455592	LNCaP	prostate:	n/a
20	chr16:74441639-74441689	ProgFib	skin:	n/a
21	chr16:74455448-74455498	PrEC	prostate:	n/a
22	chr16:74455542-74455592	A549	lung:	n/a
23	chr16:74455360-74455410	HCM	heart:	n/a
24	chr16:74455140-74455190	MCF-7	breast:	n/a
25	chr16:74446218-74446268	BJ	skin:	n/a
26	chr16:74455360-74455410	HMEC	breast:	n/a
27	chr16:74455562-74455612	HEK293	kidney:	embryo
28	chr16:74456200-74456250	SK-N-SH	brain:	n/a
29	chr16:74446218-74446268	GM19239	blood:	n/a
30	chr16:74455448-74455498	HPAEpiC	pulmonary alveolar:	n/a
31	chr16:74456200-74456250	HRPEpiC	eye:	n/a
32	chr16:74455140-74455190	H1-hESC	embryonic stem cell:	embryo
33	chr16:74441639-74441689	PrEC	prostate:	n/a
34	chr16:74441639-74441689	HRPEpiC	eye:	n/a
35	chr16:74455542-74455592	HNPCEpiC	eye:	n/a
36	chr16:74455562-74455612	GM12892	blood:	n/a
37	chr16:74455140-74455190	SAEC	small airway:	n/a
38	chr16:74455542-74455592	PANC-1	pancreas:	n/a
39	chr16:74455140-74455190	HRPEpiC	eye:	n/a
40	chr16:74455360-74455410	NHDF-neo	bronchial:	n/a
41	chr16:74455448-74455498	NHDF-neo	bronchial:	n/a
42	chr16:74455562-74455612	GM19239	blood:	n/a
43	chr16:74456200-74456250	AG09319	gingival:	n/a
44	chr16:74455448-74455498	T-47D	breast:	n/a
45	chr16:74446218-74446268	T-47D	breast:	n/a
46	chr16:74455562-74455612	BJ	skin:	n/a
47	chr16:74455448-74455498	GM12891	blood:	n/a
48	chr16:74455448-74455498	AG04449	skin:	fetal
49	chr16:74441639-74441689	SK-N-SH	brain:	n/a
50	chr16:74446218-74446268	AG09319	gingival:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPIPL2-2	chr16:74456018-74456340	ENSG00000261170.1
2	lnc-NPIPL2-2	chr16:74456028-74456340	ENSG00000261170.1

No data

Variant related genes	Relation type
CLEC18B	TF binding region
ENSG00000261170	TF binding region
CLEC18B	CpG island
ENSG00000261170	CpG island

Extended variants
information (count: 1207 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1207 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556595273	chr16:74428030-74428031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542455316	chr16:74428058-74428059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559107750	chr16:74428059-74428060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528415418	chr16:74428081-74428082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544948034	chr16:74428126-74428127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565297270	chr16:74428136-74428137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530765748	chr16:74428148-74428149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373853769	chr16:74428149-74428150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71270275	chr16:74428170-74428171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376707496	chr16:74428213-74428214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71270276	chr16:74428223-74428224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28523589	chr16:74428306-74428307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547242415	chr16:74428310-74428311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2550801	chr16:74428316-74428317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2550800	chr16:74428318-74428319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566922114	chr16:74428372-74428373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539332614	chr16:74428377-74428378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2550799	chr16:74428391-74428392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2550798	chr16:74428399-74428400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571228005	chr16:74428460-74428461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183383106	chr16:74428488-74428489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199533238	chr16:74428515-74428516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113240835	chr16:74428543-74428544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556532091	chr16:74428619-74428620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573437693	chr16:74428628-74428629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542293835	chr16:74428635-74428636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4494578	chr16:74428645-74428646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75867327	chr16:74428646-74428647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4287592	chr16:74428648-74428649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553155471	chr16:74428657-74428658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4494579	chr16:74428658-74428659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572917030	chr16:74428674-74428675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545297327	chr16:74428710-74428711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371233519	chr16:74428725-74428726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184323363	chr16:74428744-74428745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575600171	chr16:74428747-74428748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544650887	chr16:74428762-74428763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140627287	chr16:74428818-74428819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62055215	chr16:74428824-74428825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561244344	chr16:74428867-74428868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538398399	chr16:74428972-74428973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534966161	chr16:74429009-74429010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530237283	chr16:74429011-74429012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530314725	chr16:74429015-74429016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547079226	chr16:74429025-74429026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2868586	chr16:74429067-74429068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139354263	chr16:74429068-74429069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370847628	chr16:74429070-74429071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560745144	chr16:74429089-74429090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188333440	chr16:74429103-74429104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74403000-74440600	Weak transcription	Right Atrium	heart
2	chr16:74423800-74430400	Weak transcription	Ovary	ovary
3	chr16:74423800-74431400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:74423800-74432400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr16:74424000-74430800	Weak transcription	Brain Anterior Caudate	brain
6	chr16:74424600-74430400	Weak transcription	Adipose Nuclei	Adipose
7	chr16:74425400-74429200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:74425400-74429800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:74429200-74432400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:74429200-74432600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:74429800-74430200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr16:74429800-74430800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:74429800-74430800	Enhancers	Fetal Kidney	kidney
14	chr16:74429800-74431000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:74429800-74431000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr16:74429800-74431000	Enhancers	Fetal Muscle Trunk	muscle
17	chr16:74429800-74432600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:74429800-74432600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr16:74430000-74430800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:74430200-74431000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:74430200-74431000	Enhancers	Fetal Muscle Leg	muscle
22	chr16:74430400-74430600	Enhancers	Rectal Smooth Muscle	rectum
23	chr16:74430400-74430600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr16:74430400-74430800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:74430400-74430800	Enhancers	Adipose Nuclei	Adipose
26	chr16:74430400-74430800	Enhancers	Fetal Lung	lung
27	chr16:74430400-74431000	Enhancers	Fetal Brain Female	brain
28	chr16:74430400-74431000	Enhancers	Ovary	ovary
29	chr16:74430400-74432400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr16:74430400-74433000	Enhancers	Fetal Stomach	stomach
31	chr16:74430400-74433000	Enhancers	HUVEC	blood vessel
32	chr16:74430600-74431800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr16:74430600-74432000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr16:74430800-74431600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:74430800-74431800	Weak transcription	Fetal Kidney	kidney
36	chr16:74430800-74432200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:74430800-74432400	Weak transcription	Adipose Nuclei	Adipose
38	chr16:74430800-74432400	Enhancers	Brain Anterior Caudate	brain
39	chr16:74430800-74432800	Weak transcription	Fetal Lung	lung
40	chr16:74431000-74431400	Weak transcription	Fetal Muscle Leg	muscle
41	chr16:74431000-74431400	Weak transcription	Ovary	ovary
42	chr16:74431000-74432000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:74431000-74432800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:74431400-74432400	Enhancers	Ovary	ovary
45	chr16:74431400-74432600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr16:74431400-74433000	Enhancers	Fetal Muscle Leg	muscle
47	chr16:74431600-74432400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr16:74431600-74432400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:74431600-74432800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:74431800-74432400	Enhancers	Rectal Smooth Muscle	rectum

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