Variant report

Variant	nsv909520
Chromosome Location	chr18:29645496-29666127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:337)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:337 , 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	ARID3A	chr18:29652341-29652647	K562	blood:	n/a	n/a
2	ARID3A	chr18:29652345-29652621	HepG2	liver:	n/a	n/a
3	ATF2	chr18:29665004-29665523	GM12878	blood:	n/a	n/a
4	ATF2	chr18:29665082-29665449	GM12878	blood:	n/a	n/a
5	BCL11A	chr18:29665138-29665493	GM12878	blood:	n/a	n/a
6	BCL11A	chr18:29665198-29665428	GM12878	blood:	n/a	n/a
7	BCLAF1	chr18:29665091-29665449	GM12878	blood:	n/a	n/a
8	BCLAF1	chr18:29664942-29665471	GM12878	blood:	n/a	n/a
9	BHLHE40	chr18:29665096-29665408	GM12878	blood:	n/a	n/a
10	CBX3	chr18:29664909-29665472	HCT-116	colon:	n/a	n/a
11	CBX3	chr18:29664887-29665486	HCT-116	colon:	n/a	n/a
12	CEBPB	chr18:29664767-29665484	HCT-116	colon:	n/a	n/a
13	CEBPB	chr18:29647567-29647829	HepG2	liver:	n/a	n/a
14	CEBPB	chr18:29665013-29665571	GM12878	blood:	n/a	n/a
15	CEBPB	chr18:29660469-29660772	IMR90	lung:	n/a	chr18:29660614-29660625
16	CEBPB	chr18:29660448-29660723	K562	blood:	n/a	chr18:29660614-29660625
17	CEBPB	chr18:29660553-29660705	K562	blood:	n/a	chr18:29660614-29660625
18	CEBPB	chr18:29664784-29665497	HCT-116	colon:	n/a	n/a
19	CEBPB	chr18:29658270-29658302	K562	blood:	n/a	n/a
20	CEBPB	chr18:29660444-29660783	HepG2	liver:	n/a	chr18:29660614-29660625
21	CEBPB	chr18:29660479-29660748	A549	lung:	n/a	chr18:29660614-29660625
22	CEBPB	chr18:29660475-29660697	H1-hESC	embryonic stem cell:	n/a	chr18:29660614-29660625
23	CEBPB	chr18:29660288-29660804	K562	blood:	n/a	chr18:29660614-29660625
24	CHD2	chr18:29647378-29647381	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr18:29652380-29652530	RPTEC	kidney:	n/a	n/a
26	CTCF	chr18:29652440-29652590	AG09309	skin:	n/a	n/a
27	CTCF	chr18:29652400-29652550	NHLF	lung:	n/a	n/a
28	CTCF	chr18:29652620-29652770	HVMF	connective:	n/a	n/a
29	CTCF	chr18:29652420-29652570	AG04449	skin:	n/a	n/a
30	CTCF	chr18:29652440-29652590	HepG2	liver:	n/a	n/a
31	CTCF	chr18:29652440-29652590	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr18:29652420-29652570	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr18:29652480-29652630	HAc	cerebellar:	n/a	n/a
34	CTCF	chr18:29665329-29665407	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr18:29652460-29652610	MCF-7	breast:	n/a	n/a
36	CTCF	chr18:29652412-29652608	Lung_OC	lung:	n/a	n/a
37	CTCF	chr18:29652420-29652570	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr18:29652420-29652570	GM12870	blood:	n/a	n/a
39	CTCF	chr18:29652427-29652608	GM13977	blood:	n/a	n/a
40	CTCF	chr18:29652400-29652550	MCF-7	breast:	n/a	n/a
41	CTCF	chr18:29652400-29652598	MCF-7	breast:	n/a	n/a
42	CTCF	chr18:29652520-29652670	RPTEC	kidney:	n/a	n/a
43	CTCF	chr18:29657798-29657848	MCF-7	breast:	n/a	n/a
44	CTCF	chr18:29652440-29652590	GM12878	blood:	n/a	n/a
45	CTCF	chr18:29652420-29652570	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr18:29652420-29652570	HL-60	blood:	n/a	n/a
47	CTCF	chr18:29652440-29652590	AG04449	skin:	n/a	n/a
48	CTCF	chr18:29652420-29652570	AG09319	gingival:	n/a	n/a
49	CTCF	chr18:29652420-29652570	AG10803	skin:	n/a	n/a
50	CTCF	chr18:29652720-29652870	GM06990	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:29660336..29661951-chr18:29664954..29667841,2	K562	blood:
2	chr18:29657548..29661977-chr18:29669149..29673484,4	K562	blood:
3	chr18:29620883..29622757-chr18:29645869..29647631,2	K562	blood:
4	chr18:29651053..29654185-chr18:29670449..29673548,3	K562	blood:
5	chr18:29653056..29654979-chr18:29671460..29672978,2	MCF-7	breast:
6	chr18:29654269..29657288-chr18:29670351..29673351,3	K562	blood:
7	chr18:29523882..29525586-chr18:29646566..29649385,2	K562	blood:
8	chr18:29656745..29659248-chr18:29670363..29672023,2	K562	blood:
9	chr18:29636110..29637655-chr18:29646609..29648361,2	K562	blood:
10	chr18:29652389..29654185-chr18:29671814..29673548,2	K562	blood:
11	chr18:29661516..29666367-chr18:29670429..29672911,6	MCF-7	breast:
12	chr18:29645971..29648170-chr18:29655121..29657233,2	K562	blood:
13	chr18:29660336..29661951-chr18:29664954..29667841,2	K562	blood:
14	chr18:29662644..29667608-chr18:29668028..29673014,9	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRAPPC8-1	chr18:29652866-29652992	ENSG00000263664.1
2	lnc-TRAPPC8-4	chr18:29655848-29656235	NONHSAT058850
3	lnc-TRAPPC8-1	chr18:29652700-29652841	ENSG00000263664.1

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RNF125	hsa-miR-320a	chr18:29652419-29652425
2	RNF125	hsa-miR-320a	chr18:29649375-29649398
3	RNF125	hsa-miR-26b-5p	chr18:29651533-29651553

Variant related genes	Relation type
ENSG00000265063	TF binding region
ENSG00000214917	TF binding region
ENSG00000214917	chromatin interactions
ENSG00000134758	chromatin interactions
ENSG00000101695	chromatin interactions
ENSG00000265008	chromatin interactions

Extended variants
information (count: 734 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12326524	chr18:29645496-29645497	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565174665	chr18:29645506-29645507	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113421742	chr18:29645520-29645521	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs565826641	chr18:29645521-29645522	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs533004133	chr18:29645524-29645525	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs113263559	chr18:29645537-29645538	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs183505406	chr18:29645572-29645573	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs537106109	chr18:29645600-29645601	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs142959106	chr18:29645617-29645618	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs376074416	chr18:29645621-29645622	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs568663613	chr18:29645642-29645643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535659263	chr18:29645643-29645644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147063668	chr18:29645649-29645650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572649383	chr18:29645652-29645653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148113234	chr18:29645653-29645654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542262791	chr18:29645684-29645685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373761514	chr18:29645722-29645723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557691875	chr18:29645762-29645763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576145227	chr18:29645773-29645774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554147340	chr18:29645774-29645775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369405674	chr18:29645814-29645815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141968400	chr18:29645820-29645821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200490423	chr18:29645843-29645844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529127183	chr18:29645852-29645853	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs370242930	chr18:29645880-29645881	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141822083	chr18:29645881-29645882	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs200015696	chr18:29645891-29645892	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs201378700	chr18:29645892-29645893	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs76022837	chr18:29645921-29645922	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78138000	chr18:29645924-29645925	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150663325	chr18:29645930-29645931	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533221261	chr18:29645950-29645951	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373691419	chr18:29646008-29646009	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs563243702	chr18:29646034-29646035	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs140017473	chr18:29646043-29646044	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs560636349	chr18:29646061-29646062	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs532615084	chr18:29646122-29646123	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs549098741	chr18:29646155-29646156	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs567242351	chr18:29646179-29646180	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs536095192	chr18:29646223-29646224	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs28361897	chr18:29646266-29646267	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs547629657	chr18:29646303-29646304	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs188849573	chr18:29646304-29646305	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545287424	chr18:29646314-29646315	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs557751599	chr18:29646315-29646316	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs34052446	chr18:29646422-29646423	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs398032385	chr18:29646435-29646436	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs142268163	chr18:29646551-29646552	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs555876281	chr18:29646589-29646590	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs193227345	chr18:29646592-29646593	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:29615200-29648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:29618400-29646800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:29626000-29657200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:29630000-29646600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr18:29630000-29664400	Weak transcription	Fetal Muscle Leg	muscle
8	chr18:29630200-29646400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr18:29630400-29646600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr18:29630400-29650800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:29630400-29664400	Weak transcription	Left Ventricle	heart
12	chr18:29630800-29658600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr18:29631400-29671400	Weak transcription	Hela-S3	cervix
14	chr18:29635200-29650600	Weak transcription	Lung	lung
15	chr18:29635600-29646400	Weak transcription	Adipose Nuclei	Adipose
16	chr18:29635600-29646600	Weak transcription	Fetal Thymus	thymus
17	chr18:29637000-29646600	Weak transcription	Fetal Intestine Large	intestine
18	chr18:29637200-29646800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr18:29638000-29652200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr18:29638000-29652200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr18:29640200-29645800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr18:29640400-29646400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr18:29640400-29651600	Weak transcription	Spleen	Spleen
24	chr18:29640400-29652400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:29640400-29664400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr18:29640400-29664600	Weak transcription	Thymus	Thymus
27	chr18:29640600-29651800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr18:29640600-29664600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr18:29641800-29647200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr18:29641800-29647800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr18:29642200-29646000	Weak transcription	Primary B cells from cord blood	blood
32	chr18:29642200-29651200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr18:29642600-29651600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr18:29642600-29664600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr18:29643600-29649400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr18:29643600-29650800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr18:29643600-29652000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr18:29644000-29646200	Strong transcription	Fetal Intestine Small	intestine
39	chr18:29644000-29649200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr18:29644000-29652000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr18:29644000-29652000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr18:29644000-29664200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr18:29644400-29649200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:29644600-29647000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr18:29644600-29650800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr18:29644800-29645800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr18:29645000-29646400	Weak transcription	Primary T cells from cord blood	blood
48	chr18:29645000-29649000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr18:29645200-29647000	Strong transcription	Liver	Liver
50	chr18:29645400-29650600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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