Variant report

Variant	nsv1064031
Chromosome Location	chr18:43782309-43878806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:90)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr18:43848661..43851599-chr18:43856427..43859027,2	K562	blood:
2	chr18:43792629..43794429-chr18:43796211..43797949,2	K562	blood:
3	chr18:43823470..43825591-chr18:43828533..43831367,2	K562	blood:
4	chr18:43829216..43831646-chr18:43834393..43837026,3	K562	blood:
5	chr18:43753062..43754536-chr18:43793045..43793982,8	MCF-7	breast:
6	chr18:43732879..43733480-chr18:43792915..43793543,2	MCF-7	breast:
7	chr18:43861090..43861977-chr18:44098125..44099110,4	MCF-7	breast:
8	chr18:43793521..43796168-chr18:43800123..43802116,2	MCF-7	breast:
9	chr18:43806366..43808522-chr18:43815880..43817704,2	MCF-7	breast:
10	chr18:43751109..43753936-chr18:43803032..43805358,3	K562	blood:
11	chr18:43693585..43694244-chr18:43853397..43854145,2	MCF-7	breast:
12	chr18:43693592..43694379-chr18:43853310..43854326,4	MCF-7	breast:
13	chr18:43860875..43861657-chr18:43949065..43949579,2	MCF-7	breast:
14	chr18:43822903..43824970-chr18:43829081..43831367,2	K562	blood:
15	chr18:43800168..43802045-chr18:43803617..43805838,2	K562	blood:
16	chr18:43818407..43823947-chr18:43824163..43827499,5	K562	blood:
17	chr18:43870083..43872915-chr18:43874054..43877028,2	K562	blood:
18	chr18:43838791..43840958-chr18:43849580..43851726,2	K562	blood:
19	chr18:43779426..43780247-chr18:43830459..43831224,2	MCF-7	breast:
20	chr18:43753635..43755873-chr18:43803483..43806227,2	MCF-7	breast:
21	chr18:43753397..43755321-chr18:43852793..43854313,2	MCF-7	breast:
22	chr18:43728350..43729349-chr18:43791914..43792551,2	K562	blood:
23	chr18:43752897..43753962-chr18:43870141..43871075,3	MCF-7	breast:
24	chr18:43799735..43802045-chr18:43803265..43805117,3	K562	blood:
25	chr18:43818407..43823947-chr18:43824163..43827499,5	K562	blood:
26	chr18:43751426..43753424-chr18:43797848..43800779,3	K562	blood:
27	chr18:43753733..43755578-chr18:43856070..43858581,2	K562	blood:
28	chr18:43840075..43842434-chr18:43846486..43849095,2	K562	blood:
29	chr18:43779867..43781418-chr18:43783890..43786002,2	K562	blood:
30	chr18:43778384..43781294-chr18:43789477..43791709,2	MCF-7	breast:
31	chr18:43793521..43796168-chr18:43800123..43802116,2	MCF-7	breast:
32	chr18:43867075..43868913-chr18:43872256..43874460,2	MCF-7	breast:
33	chr18:43847366..43849073-chr18:43852796..43854373,2	K562	blood:
34	chr18:43851027..43852894-chr18:43913244..43915133,2	MCF-7	breast:
35	chr18:43813159..43815457-chr18:43822557..43825272,2	K562	blood:
36	chr18:43800168..43802045-chr18:43803617..43805838,2	K562	blood:
37	chr18:43853524..43854121-chr18:43955106..43955715,2	MCF-7	breast:
38	chr18:43816528..43818716-chr18:43832910..43835348,2	K562	blood:
39	chr18:43752117..43755580-chr18:43786851..43790575,4	K562	blood:
40	chr18:43752637..43754966-chr18:43802774..43805667,3	MCF-7	breast:
41	chr18:43855454..43855969-chr18:44053298..44053822,2	MCF-7	breast:
42	chr18:43867075..43868913-chr18:43872256..43874460,2	MCF-7	breast:
43	chr18:43819251..43822045-chr18:43824283..43826590,3	MCF-7	breast:
44	chr18:43848661..43851599-chr18:43856427..43859027,2	K562	blood:
45	chr18:43816528..43818716-chr18:43832910..43835348,2	K562	blood:
46	chr18:43813159..43815457-chr18:43822557..43825272,2	K562	blood:
47	chr18:43799735..43802045-chr18:43803265..43805117,3	K562	blood:
48	chr18:43792929..43795113-chr18:43795135..43797949,3	K562	blood:
49	chr18:43861045..43861799-chr18:43870971..43871561,2	MCF-7	breast:
50	chr18:43795518..43797206-chr18:43801637..43804077,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C18orf25-1	chr18:43857448-43859388	NONHSAT059131

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	C18orf25	hsa-miR-26b-5p	chr18:43845194-43845200
2	C18orf25	hsa-miR-26b-5p	chr18:43845099-43845105
3	C18orf25	hsa-miR-26b-5p	chr18:43845085-43845105

Variant related genes	Relation type
ENSG00000152242	chromatin interactions
ENSG00000141622	chromatin interactions
ENSG00000167210	chromatin interactions

Extended variants
information (count: 3548 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:3548 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377168126	chr18:43782390-43782391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373554249	chr18:43782410-43782411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569858002	chr18:43782457-43782458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189623802	chr18:43782466-43782467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552103651	chr18:43782561-43782562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147373007	chr18:43782568-43782569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192515947	chr18:43782570-43782571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544942327	chr18:43782574-43782575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184556718	chr18:43782583-43782584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374625105	chr18:43782588-43782589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367721541	chr18:43782614-43782615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574135443	chr18:43782623-43782624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7227847	chr18:43782633-43782634	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs77380580	chr18:43782638-43782639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188922175	chr18:43782679-43782680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376778128	chr18:43782761-43782762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375056340	chr18:43782767-43782768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6507687	chr18:43782768-43782769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543959474	chr18:43782777-43782778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559647031	chr18:43782779-43782780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7228024	chr18:43782791-43782792	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs199851007	chr18:43782815-43782816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs70944604	chr18:43782817-43782818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6507689	chr18:43782818-43782819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79443713	chr18:43782830-43782831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530070296	chr18:43782863-43782864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181449658	chr18:43782874-43782875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116826590	chr18:43782907-43782908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563567409	chr18:43782927-43782928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs118037540	chr18:43782952-43782953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143851889	chr18:43783016-43783017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186243169	chr18:43783049-43783050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189763139	chr18:43783078-43783079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528161961	chr18:43783113-43783114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181021702	chr18:43783178-43783179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544405490	chr18:43783219-43783220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77988319	chr18:43783227-43783228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74403580	chr18:43783228-43783229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567815550	chr18:43783255-43783256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535388804	chr18:43783270-43783271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556698088	chr18:43783318-43783319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73956252	chr18:43783328-43783329	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561358694	chr18:43783397-43783398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112626260	chr18:43783408-43783409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185061833	chr18:43783471-43783472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559188097	chr18:43783482-43783483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148612976	chr18:43783492-43783493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190901533	chr18:43783543-43783544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553463119	chr18:43783575-43783576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183092714	chr18:43783577-43783578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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	21297112	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
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2718 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43755600-43795600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:43756800-43796000	Weak transcription	Esophagus	oesophagus
3	chr18:43758800-43785000	Weak transcription	Fetal Thymus	thymus
4	chr18:43761200-43796000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr18:43763000-43785000	Weak transcription	Small Intestine	intestine
6	chr18:43763000-43795800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr18:43763400-43784400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:43763400-43799200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr18:43763600-43796000	Weak transcription	Fetal Lung	lung
10	chr18:43764600-43795800	Weak transcription	Lung	lung
11	chr18:43765600-43784200	Weak transcription	Primary B cells from cord blood	blood
12	chr18:43766000-43783200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr18:43768800-43783000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr18:43769200-43802800	Weak transcription	Brain Hippocampus Middle	brain
15	chr18:43769800-43784200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:43770800-43796000	Weak transcription	Brain Substantia Nigra	brain
17	chr18:43771800-43795800	Weak transcription	Brain Anterior Caudate	brain
18	chr18:43772000-43795800	Weak transcription	Adipose Nuclei	Adipose
19	chr18:43772000-43795800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr18:43772200-43796000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:43772800-43783000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr18:43772800-43795800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr18:43774200-43783800	Weak transcription	GM12878-XiMat	blood
24	chr18:43774400-43795800	Weak transcription	Fetal Stomach	stomach
25	chr18:43775200-43783200	Weak transcription	Fetal Brain Female	brain
26	chr18:43776400-43802000	Weak transcription	Brain Germinal Matrix	brain
27	chr18:43776800-43783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr18:43776800-43795800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr18:43777000-43784600	Weak transcription	HSMMtube	muscle
30	chr18:43777000-43812000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr18:43777200-43791600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:43777200-43795600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr18:43777800-43783000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr18:43777800-43795800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:43777800-43805000	Weak transcription	Fetal Intestine Small	intestine
36	chr18:43778200-43789200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr18:43778600-43788400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr18:43779000-43783000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr18:43779000-43783800	Enhancers	Dnd41	blood
40	chr18:43779600-43784200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:43779800-43783400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr18:43779800-43783800	Weak transcription	NHEK	skin
43	chr18:43779800-43784200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr18:43780000-43783200	Weak transcription	Primary T cells from cord blood	blood
45	chr18:43780000-43784600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr18:43780000-43785000	Weak transcription	HUVEC	blood vessel
47	chr18:43780000-43785200	Weak transcription	Thymus	Thymus
48	chr18:43780000-43791400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:43780000-43791400	Weak transcription	Osteobl	bone
50	chr18:43780000-43793200	Weak transcription	Liver	Liver

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