Variant report

Variant	nsv817785
Chromosome Location	chr18:13130681-13133577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:13128234..13129969-chr18:13130472..13133331,2	K562	blood:
2	chr18:13124233..13126010-chr18:13129729..13132355,2	K562	blood:
3	chr18:13129145..13130942-chr18:13543662..13545815,2	MCF-7	breast:
4	chr18:13130413..13132086-chr18:13135033..13137817,2	MCF-7	breast:
5	chr18:13133544..13136413-chr18:13146335..13148164,2	K562	blood:

Extended variants
information (count: 162 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12327306	chr18:13130681-13130682	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150680241	chr18:13130688-13130689	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574858505	chr18:13130734-13130735	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556672738	chr18:13130762-13130763	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183167060	chr18:13130787-13130788	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187535923	chr18:13130788-13130789	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139889966	chr18:13130832-13130833	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540978794	chr18:13130836-13130837	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149821803	chr18:13130837-13130838	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542993719	chr18:13130859-13130860	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560219015	chr18:13130922-13130923	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190838988	chr18:13130927-13130928	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs66470739	chr18:13130928-13130929	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs578098765	chr18:13130931-13130932	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs60014900	chr18:13130937-13130938	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139858545	chr18:13130965-13130966	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386801400	chr18:13131033-13131034	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547739694	chr18:13131035-13131036	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs60521367	chr18:13131040-13131041	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548143814	chr18:13131052-13131053	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569655314	chr18:13131056-13131057	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537111204	chr18:13131069-13131070	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558361700	chr18:13131082-13131083	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577864591	chr18:13131094-13131095	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538826467	chr18:13131099-13131100	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs478502	chr18:13131100-13131101	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572371345	chr18:13131107-13131108	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542657124	chr18:13131141-13131142	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561294455	chr18:13131202-13131203	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143235833	chr18:13131208-13131209	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543942876	chr18:13131209-13131210	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565354857	chr18:13131219-13131220	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183962597	chr18:13131266-13131267	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563797674	chr18:13131340-13131341	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11665394	chr18:13131357-13131358	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559703052	chr18:13131393-13131394	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs386801401	chr18:13131394-13131395	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1787004	chr18:13131395-13131396	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs187734933	chr18:13131426-13131427	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536642759	chr18:13131468-13131469	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551881954	chr18:13131477-13131478	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11665451	chr18:13131510-13131511	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs148811742	chr18:13131514-13131515	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142702468	chr18:13131611-13131612	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151007642	chr18:13131624-13131625	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376396324	chr18:13131629-13131630	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536992806	chr18:13131631-13131632	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547024705	chr18:13131642-13131643	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559311850	chr18:13131697-13131698	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576411904	chr18:13131749-13131750	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13106800-13135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:13118200-13132600	Weak transcription	HepG2	liver
3	chr18:13118400-13135600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr18:13118400-13136200	Weak transcription	Psoas Muscle	Psoas
5	chr18:13118800-13136800	Weak transcription	HSMMtube	muscle
6	chr18:13119000-13130800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr18:13119000-13133400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr18:13119000-13134200	Weak transcription	Fetal Lung	lung
9	chr18:13119000-13136400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr18:13119200-13135800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr18:13119200-13136400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr18:13119400-13133600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr18:13119600-13135400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:13121200-13136400	Weak transcription	NHDF-Ad	bronchial
15	chr18:13121400-13134000	Weak transcription	HMEC	breast
16	chr18:13121400-13136600	Weak transcription	Brain Angular Gyrus	brain
17	chr18:13121600-13131600	Weak transcription	Fetal Kidney	kidney
18	chr18:13121600-13135800	Weak transcription	Fetal Brain Male	brain
19	chr18:13121600-13136000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr18:13121800-13134200	Weak transcription	HUVEC	blood vessel
21	chr18:13121800-13136400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr18:13122000-13136400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr18:13123800-13136400	Weak transcription	HSMM	muscle
24	chr18:13124800-13131400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr18:13125400-13130800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:13125600-13135800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr18:13126200-13130800	Strong transcription	Fetal Stomach	stomach
28	chr18:13126400-13130800	Strong transcription	Fetal Intestine Small	intestine
29	chr18:13126600-13135000	Weak transcription	Ovary	ovary
30	chr18:13126800-13131200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr18:13126800-13133400	Weak transcription	K562	blood
32	chr18:13127000-13133400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:13127000-13135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr18:13127000-13136200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr18:13127000-13136200	Weak transcription	Placenta	Placenta
36	chr18:13127200-13130800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr18:13127200-13135800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr18:13127200-13136200	Weak transcription	Brain Anterior Caudate	brain
39	chr18:13127400-13132000	Weak transcription	Fetal Intestine Large	intestine
40	chr18:13127400-13132000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr18:13127400-13134200	Weak transcription	NHEK	skin
42	chr18:13127400-13135600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr18:13127400-13135800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr18:13127400-13135800	Weak transcription	GM12878-XiMat	blood
45	chr18:13127400-13136400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:13127600-13131200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr18:13127600-13132400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr18:13127600-13132400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr18:13127600-13133200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:13127600-13134800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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