Variant report

Variant	nsv2268
Chromosome Location	chr18:39487042-39531721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:315)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr18:39518451-39518770	K562	blood:	n/a	n/a
2	ATF1	chr18:39490055-39490356	K562	blood:	n/a	n/a
3	ATF1	chr18:39505643-39505912	K562	blood:	n/a	n/a
4	ATF1	chr18:39497852-39498167	K562	blood:	n/a	n/a
5	ATF1	chr18:39500527-39500689	K562	blood:	n/a	n/a
6	ATF1	chr18:39503671-39503970	K562	blood:	n/a	n/a
7	ATF2	chr18:39527160-39527879	GM12878	blood:	n/a	n/a
8	ATF2	chr18:39527417-39527859	GM12878	blood:	n/a	n/a
9	BACH1	chr18:39523386-39523762	K562	blood:	n/a	n/a
10	BACH1	chr18:39501548-39501652	K562	blood:	n/a	n/a
11	BATF	chr18:39527312-39527571	GM12878	blood:	n/a	n/a
12	BCL3	chr18:39509815-39510141	GM12878	blood:	n/a	n/a
13	BCLAF1	chr18:39527326-39527816	GM12878	blood:	n/a	n/a
14	BHLHE40	chr18:39516823-39516875	K562	blood:	n/a	n/a
15	BHLHE40	chr18:39486615-39487130	GM12878	blood:	n/a	n/a
16	BHLHE40	chr18:39518508-39518680	K562	blood:	n/a	n/a
17	BHLHE40	chr18:39528793-39529322	K562	blood:	n/a	n/a
18	BHLHE40	chr18:39486398-39487171	K562	blood:	n/a	n/a
19	CEBPB	chr18:39490123-39490179	K562	blood:	n/a	chr18:39490140-39490151
20	CEBPB	chr18:39500814-39500964	A549	lung:	n/a	chr18:39500953-39500964
21	CEBPB	chr18:39525121-39525441	IMR90	lung:	n/a	n/a
22	CEBPB	chr18:39507566-39507763	K562	blood:	n/a	n/a
23	CEBPB	chr18:39503513-39503740	K562	blood:	n/a	chr18:39503659-39503670
24	CEBPB	chr18:39520427-39520905	IMR90	lung:	n/a	chr18:39520427-39520444
25	CEBPB	chr18:39503556-39504022	HepG2	liver:	n/a	chr18:39503659-39503670
26	CHD2	chr18:39527304-39527582	GM12878	blood:	n/a	n/a
27	CTCF	chr18:39518580-39518730	RPTEC	kidney:	n/a	n/a
28	CTCF	chr18:39518600-39518750	HAc	cerebellar:	n/a	n/a
29	CTCF	chr18:39487120-39487270	GM12864	blood:	n/a	n/a
30	CTCF	chr18:39518660-39518810	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr18:39518600-39518750	HPF	lung:	n/a	n/a
32	CTCF	chr18:39518580-39518730	HEK293	kidney:	n/a	n/a
33	CTCF	chr18:39487087-39487179	GM10266	blood:	n/a	n/a
34	CTCF	chr18:39518580-39518730	AG04449	skin:	n/a	n/a
35	CTCF	chr18:39518580-39518730	HepG2	liver:	n/a	n/a
36	CTCF	chr18:39518680-39518830	RPTEC	kidney:	n/a	n/a
37	CTCF	chr18:39518599-39518730	Fibrobl	skin:	n/a	n/a
38	CTCF	chr18:39518640-39518790	NHEK	skin:	n/a	n/a
39	CTCF	chr18:39518624-39518738	ProgFib	skin:	n/a	n/a
40	CTCF	chr18:39518600-39518750	HRE	kidney:	n/a	n/a
41	CTCF	chr18:39518540-39518690	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr18:39487082-39487176	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr18:39518580-39518730	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr18:39518378-39518867	IMR90	lung:	n/a	n/a
45	CTCF	chr18:39518560-39518710	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr18:39518540-39518690	WI-38	lung:	n/a	n/a
47	CTCF	chr18:39518614-39518770	Gliobla	brain:	n/a	n/a
48	CTCF	chr18:39529220-39529370	GM06990	blood:	n/a	n/a
49	CTCF	chr18:39518600-39518750	HCFaa	heart:	n/a	n/a
50	CTCF	chr18:39486415-39487365	SK-N-SH	brain:	n/a	chr18:39486816-39486837 chr18:39486821-39486839 chr18:39486822-39486838 chr18:39486826-39486834

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:39490551..39491071-chr20:47304968..47305488,2	MCF-7	breast:
2	chr18:39525438..39527045-chr18:39535673..39538548,2	K562	blood:
3	chr18:39348038..39348550-chr18:39486592..39487172,2	MCF-7	breast:
4	chr18:39527112..39531419-chr18:39531831..39536348,5	K562	blood:
5	chr18:39508822..39510780-chr18:39534110..39536882,2	K562	blood:
6	chr18:39508498..39511790-chr18:39514300..39517949,3	K562	blood:
7	chr18:39496794..39499325-chr18:39508884..39510445,2	K562	blood:
8	chr18:39508498..39511790-chr18:39514300..39517949,3	K562	blood:
9	chr18:39528858..39531419-chr18:39533035..39536390,4	K562	blood:
10	chr18:39496794..39499325-chr18:39508884..39510445,2	K562	blood:

No data

Variant related genes	Relation type
PIK3C3	TF binding region
ENSG00000078142	chromatin interactions

Extended variants
information (count: 1350 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1350 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150598972	chr18:39487070-39487071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559995018	chr18:39487112-39487113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117691523	chr18:39487116-39487117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548525188	chr18:39487121-39487122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138641174	chr18:39487180-39487181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374283484	chr18:39487208-39487209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530995618	chr18:39487218-39487219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550888630	chr18:39487220-39487221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368471210	chr18:39487237-39487238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115378197	chr18:39487244-39487245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570989696	chr18:39487264-39487265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144425965	chr18:39487318-39487319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547658633	chr18:39487334-39487335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375652670	chr18:39487378-39487379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565918269	chr18:39487444-39487445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533876621	chr18:39487448-39487449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34065205	chr18:39487489-39487490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190803420	chr18:39487518-39487519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575927468	chr18:39487524-39487525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536683722	chr18:39487543-39487544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373650891	chr18:39487544-39487545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371572893	chr18:39487550-39487551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371400579	chr18:39487558-39487559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576579618	chr18:39487602-39487603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541183499	chr18:39487629-39487630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373676178	chr18:39487637-39487638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367767914	chr18:39487650-39487651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397858267	chr18:39487651-39487652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182982535	chr18:39487664-39487665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60960439	chr18:39487669-39487670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575041453	chr18:39487702-39487703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12185462	chr18:39487770-39487771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187649228	chr18:39487864-39487865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12185371	chr18:39487941-39487942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs190921517	chr18:39487959-39487960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372836232	chr18:39487981-39487982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145084729	chr18:39488026-39488027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528598911	chr18:39488045-39488046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183004848	chr18:39488056-39488057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12185285	chr18:39488062-39488063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529928589	chr18:39488091-39488092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548172797	chr18:39488102-39488103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569975299	chr18:39488125-39488126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530190648	chr18:39488194-39488195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369787498	chr18:39488211-39488212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533637123	chr18:39488217-39488218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536648323	chr18:39488218-39488219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558136018	chr18:39488227-39488228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570173939	chr18:39488228-39488229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372548226	chr18:39488299-39488300	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:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39486200-39487200	Enhancers	GM12878-XiMat	blood
2	chr18:39486400-39487200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr18:39486800-39490800	Weak transcription	Brain Substantia Nigra	brain
4	chr18:39486800-39491000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr18:39486800-39491600	Weak transcription	Brain Anterior Caudate	brain
6	chr18:39487000-39487200	Enhancers	Fetal Brain Male	brain
7	chr18:39487200-39489800	Weak transcription	GM12878-XiMat	blood
8	chr18:39489800-39490000	Enhancers	GM12878-XiMat	blood
9	chr18:39490800-39492000	Enhancers	Brain Substantia Nigra	brain
10	chr18:39491000-39492000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:39491400-39492000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr18:39491600-39492000	Enhancers	Brain Anterior Caudate	brain
13	chr18:39491600-39492200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr18:39492200-39492400	Enhancers	Left Ventricle	heart
15	chr18:39496800-39497200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:39499800-39500000	Bivalent Enhancer	Fetal Brain Male	brain
17	chr18:39501600-39504000	Enhancers	Fetal Lung	lung
18	chr18:39501800-39502400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr18:39501800-39503200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr18:39502000-39502800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:39502000-39503600	Enhancers	Fetal Kidney	kidney
22	chr18:39502200-39502800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:39503200-39504200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr18:39503400-39504000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr18:39503400-39504400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr18:39504000-39505000	Weak transcription	Fetal Lung	lung
27	chr18:39504200-39508000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr18:39504400-39508000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr18:39505000-39505200	Enhancers	Fetal Lung	lung
30	chr18:39506800-39507000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr18:39507000-39508400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:39508000-39508200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr18:39508000-39508800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr18:39508200-39509200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr18:39508400-39508800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr18:39508800-39509200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr18:39509200-39509400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr18:39509200-39509600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr18:39513400-39513600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr18:39513400-39514200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr18:39513600-39513800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr18:39513600-39514000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr18:39513600-39514000	ZNF genes & repeats	Spleen	Spleen
44	chr18:39513600-39514200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr18:39513600-39514200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr18:39513600-39514200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr18:39513600-39514200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr18:39513600-39514200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr18:39513800-39514000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr18:39513800-39514000	Weak transcription	H9 Cell Line	embryonic stem cell

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