Variant report

Variant	nsv1036986
Chromosome Location	chr11:106046850-106075023
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:106065586..106067829-chr11:106070773..106072940,2	K562	blood:
2	chr11:106065586..106067829-chr11:106070773..106072940,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AASDHPPT-2	chr11:106047725-106048329	NONHSAT023976
2	lnc-KBTBD3-3	chr11:106049963-106054336	ucscGeneNc_uc001pjf_2

Extended variants
information (count: 1173 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1173 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374051926	chr11:106046874-106046875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189539053	chr11:106046877-106046878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12271522	chr11:106046895-106046896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs556740645	chr11:106046909-106046910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576425761	chr11:106046918-106046919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545394835	chr11:106046919-106046920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4514384	chr11:106046973-106046974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs538930275	chr11:106046984-106046985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528008369	chr11:106046987-106046988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542816419	chr11:106046997-106046998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4505036	chr11:106047055-106047056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs138980533	chr11:106047060-106047061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4505037	chr11:106047102-106047103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs568621946	chr11:106047112-106047113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181121520	chr11:106047144-106047145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4531437	chr11:106047155-106047156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs376647085	chr11:106047210-106047211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566616506	chr11:106047211-106047212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535551151	chr11:106047280-106047281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556991021	chr11:106047281-106047282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534079071	chr11:106047284-106047285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117585839	chr11:106047308-106047309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567466218	chr11:106047330-106047331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183787336	chr11:106047336-106047337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556652775	chr11:106047400-106047401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578052018	chr11:106047468-106047469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553827028	chr11:106047543-106047544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545045390	chr11:106047550-106047551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10750744	chr11:106047577-106047578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs543427743	chr11:106047586-106047587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10750745	chr11:106047600-106047601	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs188151477	chr11:106047656-106047657	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs576191350	chr11:106047657-106047658	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs116341104	chr11:106047666-106047667	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs182029203	chr11:106047735-106047736	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs533065968	chr11:106047770-106047771	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs551222791	chr11:106047783-106047784	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs187104322	chr11:106047798-106047799	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs73541532	chr11:106047799-106047800	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs549291066	chr11:106047823-106047824	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
41	rs562903800	chr11:106047825-106047826	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
42	rs567574015	chr11:106047869-106047870	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
43	rs34469772	chr11:106047870-106047871	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
44	rs67494469	chr11:106047871-106047872	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
45	rs537992485	chr11:106047893-106047894	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
46	rs192068850	chr11:106047894-106047895	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
47	rs562438099	chr11:106047927-106047928	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
48	rs571613348	chr11:106047929-106047930	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
49	rs75929248	chr11:106047932-106047933	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
50	rs571439056	chr11:106047941-106047942	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD
Melanoma	17363583	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106042800-106048000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:106044400-106048000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:106045800-106063600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:106047600-106047800	Active TSS	Pancreas	Pancrea
5	chr11:106047800-106048000	Transcr. at gene 5' and 3'	Pancreas	Pancrea
6	chr11:106047800-106048600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:106047800-106048600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:106047800-106049000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:106048000-106048400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:106048000-106048400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:106048000-106048600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:106048000-106048600	Active TSS	Pancreas	Pancrea
13	chr11:106048200-106048400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:106048200-106048400	Enhancers	Fetal Intestine Large	intestine
15	chr11:106048200-106048600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:106048200-106048600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr11:106048200-106048800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:106048400-106049200	Weak transcription	Fetal Intestine Large	intestine
19	chr11:106049200-106050000	Enhancers	Fetal Intestine Large	intestine
20	chr11:106049200-106050200	Enhancers	Rectal Smooth Muscle	rectum
21	chr11:106049400-106050200	Enhancers	Colon Smooth Muscle	Colon
22	chr11:106049800-106050000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:106057400-106071800	Weak transcription	Pancreas	Pancrea
24	chr11:106062000-106062600	Enhancers	Fetal Brain Male	brain
25	chr11:106062600-106063800	Weak transcription	Fetal Brain Male	brain
26	chr11:106063000-106065000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:106063600-106064200	Enhancers	HMEC	breast
28	chr11:106063600-106064400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:106063800-106065200	Enhancers	Fetal Brain Male	brain
30	chr11:106064000-106064200	Enhancers	Fetal Intestine Large	intestine
31	chr11:106064800-106065000	Enhancers	Fetal Intestine Large	intestine
32	chr11:106070200-106071000	Enhancers	Small Intestine	intestine
33	chr11:106070800-106073000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:106071800-106072000	Enhancers	Pancreas	Pancrea
35	chr11:106072000-106078800	Weak transcription	Pancreas	Pancrea
36	chr11:106072800-106074000	Enhancers	Fetal Intestine Small	intestine
37	chr11:106073000-106073200	Enhancers	Small Intestine	intestine
38	chr11:106073000-106073800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:106073000-106074000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:106073200-106073800	Weak transcription	Small Intestine	intestine
41	chr11:106073800-106074000	Enhancers	Small Intestine	intestine
42	chr11:106074000-106074200	Enhancers	Fetal Intestine Large	intestine
43	chr11:106074000-106075400	Enhancers	Ovary	ovary
44	chr11:106074000-106075600	Weak transcription	Fetal Intestine Small	intestine
45	chr11:106074000-106079800	Weak transcription	Small Intestine	intestine
46	chr11:106074200-106075400	Weak transcription	Fetal Intestine Large	intestine

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