Variant report

Variant	nsv1060346
Chromosome Location	chr18:39678456-39742702
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	chr18:39693941-39694141	K562	blood:	n/a	n/a
2	ARID3A	chr18:39692657-39693205	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:39739204-39739442	HepG2	liver:	n/a	chr18:39739276-39739292
4	ARID3A	chr18:39721483-39721683	HepG2	liver:	n/a	n/a
5	ARID3A	chr18:39693801-39694659	HepG2	liver:	n/a	n/a
6	ATF1	chr18:39681004-39681204	K562	blood:	n/a	n/a
7	BATF	chr18:39694341-39694593	GM12878	blood:	n/a	n/a
8	BCL11A	chr18:39693887-39694158	GM12878	blood:	n/a	n/a
9	BHLHE40	chr18:39694015-39694627	GM12878	blood:	n/a	n/a
10	BHLHE40	chr18:39717225-39717263	GM12878	blood:	n/a	n/a
11	BHLHE40	chr18:39692743-39693176	HepG2	liver:	n/a	n/a
12	BHLHE40	chr18:39680937-39681019	K562	blood:	n/a	n/a
13	CEBPB	chr18:39693765-39694280	HCT-116	colon:	n/a	chr18:39694042-39694053
14	CEBPB	chr18:39693875-39694578	Hela-S3	cervix:	n/a	chr18:39694042-39694053
15	CEBPB	chr18:39693858-39694232	HepG2	liver:	n/a	chr18:39694042-39694053
16	CEBPB	chr18:39694046-39694188	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr18:39693929-39694143	HepG2	liver:	n/a	chr18:39694042-39694053
18	CEBPB	chr18:39697809-39698139	HepG2	liver:	n/a	chr18:39697953-39697964
19	CEBPB	chr18:39692670-39693072	HepG2	liver:	n/a	n/a
20	CEBPB	chr18:39697899-39698038	Hela-S3	cervix:	n/a	chr18:39697953-39697964
21	CEBPB	chr18:39727070-39727242	HepG2	liver:	n/a	n/a
22	CEBPB	chr18:39693851-39694550	IMR90	lung:	n/a	chr18:39694042-39694053
23	CEBPB	chr18:39721479-39721734	HepG2	liver:	n/a	n/a
24	CEBPB	chr18:39693866-39694191	K562	blood:	n/a	chr18:39694042-39694053
25	CEBPB	chr18:39693864-39694214	HepG2	liver:	n/a	chr18:39694042-39694053
26	CEBPB	chr18:39693873-39694205	K562	blood:	n/a	chr18:39694042-39694053
27	CEBPB	chr18:39693879-39694190	HepG2	liver:	n/a	chr18:39694042-39694053
28	CEBPB	chr18:39697904-39698025	H1-hESC	embryonic stem cell:	n/a	chr18:39697953-39697964
29	CHD1	chr18:39693864-39694611	GM12878	blood:	n/a	n/a
30	CHD2	chr18:39694355-39694639	GM12878	blood:	n/a	n/a
31	CTBP2	chr18:39687703-39688442	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr18:39694262-39694736	HCT-116	colon:	n/a	chr18:39694484-39694492
33	CTCF	chr18:39721583-39721728	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr18:39694440-39694590	HEEpiC	esophagus:	n/a	chr18:39694484-39694492
35	CTCF	chr18:39694420-39694570	HMF	breast:	n/a	chr18:39694484-39694492
36	CTCF	chr18:39694400-39694550	GM12865	blood:	n/a	chr18:39694484-39694492
37	CTCF	chr18:39694365-39694609	GM13977	blood:	n/a	chr18:39694484-39694492
38	CTCF	chr18:39694420-39694570	AG09309	skin:	n/a	chr18:39694484-39694492
39	CTCF	chr18:39703904-39703943	GM20000	blood:	n/a	n/a
40	CTCF	chr18:39694338-39694625	HUVEC	blood vessel:	n/a	chr18:39694484-39694492
41	CTCF	chr18:39693880-39694030	AG04449	skin:	n/a	n/a
42	CTCF	chr18:39694340-39694625	Medullo	brain:	n/a	chr18:39694484-39694492
43	CTCF	chr18:39694440-39694590	Caco-2	colon:	n/a	chr18:39694484-39694492
44	CTCF	chr18:39694341-39694677	ECC-1	luminal epithelium:	n/a	chr18:39694484-39694492
45	CTCF	chr18:39694420-39694570	SAEC	small airway:	n/a	chr18:39694484-39694492
46	CTCF	chr18:39694328-39694645	Spleen_OC	spleen:	n/a	chr18:39694484-39694492
47	CTCF	chr18:39721481-39721782	GM12878	blood:	n/a	n/a
48	CTCF	chr18:39694383-39694591	GM10248	blood:	n/a	chr18:39694484-39694492
49	CTCF	chr18:39721600-39721750	GM12873	blood:	n/a	n/a
50	CTCF	chr18:39721580-39721730	HMF	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:39694318..39694934-chr18:40851655..40852415,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIK3C3-5	chr18:39739247-39739441	ENSG00000267586.2

Variant related genes	Relation type
LINC00907	TF binding region
ENSG00000132872	chromatin interactions

Extended variants
information (count: 1143 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1143 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536139	chr18:39678486-39678487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550225228	chr18:39678489-39678490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532866205	chr18:39678514-39678515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34946143	chr18:39678543-39678544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76748694	chr18:39678596-39678597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185149588	chr18:39678609-39678610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547143595	chr18:39678611-39678612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534463055	chr18:39678632-39678633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374832039	chr18:39678713-39678714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143347017	chr18:39678714-39678715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567637190	chr18:39678745-39678746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369270769	chr18:39678793-39678794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs627636	chr18:39678828-39678829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs371573177	chr18:39678854-39678855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34549564	chr18:39678859-39678860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112923319	chr18:39678862-39678863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12457576	chr18:39678878-39678879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs181394558	chr18:39678897-39678898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554603177	chr18:39678918-39678919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186522419	chr18:39679000-39679001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540107319	chr18:39679020-39679021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561661830	chr18:39679033-39679034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573282889	chr18:39679035-39679036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145627963	chr18:39679036-39679037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61317955	chr18:39679074-39679075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148892567	chr18:39679142-39679143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551196281	chr18:39679147-39679148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73453013	chr18:39679231-39679232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs527910680	chr18:39679235-39679236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549664423	chr18:39679251-39679252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567994017	chr18:39679266-39679267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143601203	chr18:39679268-39679269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550248760	chr18:39679297-39679298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571643825	chr18:39679309-39679310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577098521	chr18:39679324-39679325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150938670	chr18:39679328-39679329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538099328	chr18:39679336-39679337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566623857	chr18:39679352-39679353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546723019	chr18:39679405-39679406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546064557	chr18:39679543-39679544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10468957	chr18:39679585-39679586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs573642868	chr18:39679592-39679593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191741978	chr18:39679608-39679609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556083501	chr18:39679614-39679615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577568246	chr18:39679682-39679683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545060799	chr18:39679688-39679689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560007037	chr18:39679711-39679712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527873493	chr18:39679752-39679753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543271721	chr18:39679753-39679754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561567126	chr18:39679803-39679804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39653000-39683400	Weak transcription	Aorta	Aorta
2	chr18:39676800-39680200	Weak transcription	Fetal Intestine Large	intestine
3	chr18:39680200-39681400	Enhancers	Fetal Intestine Large	intestine
4	chr18:39680400-39681400	Enhancers	Fetal Intestine Small	intestine
5	chr18:39680800-39681200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:39681200-39681400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:39681200-39687800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:39682000-39684000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:39684000-39689400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:39684800-39686000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr18:39685000-39685200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr18:39685000-39685200	Enhancers	Fetal Brain Female	brain
13	chr18:39685200-39687200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:39685200-39689400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:39685400-39686600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:39685600-39686000	Enhancers	Dnd41	blood
17	chr18:39685800-39686000	Enhancers	Fetal Brain Female	brain
18	chr18:39685800-39686400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:39686400-39687400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:39686800-39688000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr18:39686800-39688000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr18:39687200-39688200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr18:39687200-39688400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr18:39687200-39688600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr18:39687400-39688000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr18:39687400-39688200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr18:39687400-39688200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr18:39687400-39688400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr18:39687400-39688400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:39687400-39688400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr18:39687600-39688800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:39687800-39688000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr18:39688200-39692400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr18:39689400-39692200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:39691200-39693800	Enhancers	HepG2	liver
36	chr18:39692200-39695600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:39692400-39693000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr18:39692600-39694800	Enhancers	Fetal Intestine Small	intestine
39	chr18:39692800-39694000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr18:39692800-39694800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:39693000-39694200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr18:39693000-39695000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:39693200-39693400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr18:39693200-39693800	Enhancers	GM12878-XiMat	blood
45	chr18:39693200-39694000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr18:39693200-39694000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr18:39693200-39694200	Enhancers	Primary hematopoietic stem cells	blood
48	chr18:39693200-39694400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr18:39693200-39694400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr18:39693200-39694800	Enhancers	Dnd41	blood

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