Variant report

Variant	nsv591276
Chromosome Location	chr3:110822496-110854196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:110850049..110852272-chr3:110854262..110855998,2	K562	blood:
2	chr3:110850483..110852272-chr3:110853900..110855998,2	K562	blood:
3	chr3:110850483..110852272-chr3:110853900..110855998,2	K562	blood:
4	chr20:55840210..55842234-chr3:110843254..110844817,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD96-5	chr3:110830857-110830964	NONHSAT091142

Variant related genes	Relation type
ENSG00000101144	chromatin interactions
ENSG00000226308	chromatin interactions

Extended variants
information (count: 1135 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1135 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1477846	chr3:110822496-110822497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75132040	chr3:110822503-110822504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573270786	chr3:110822506-110822507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535552265	chr3:110822516-110822517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555737141	chr3:110822539-110822540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373866410	chr3:110822548-110822549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528852748	chr3:110822560-110822561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550320602	chr3:110822605-110822606	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs192127167	chr3:110822609-110822610	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs564437616	chr3:110822630-110822631	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs568133305	chr3:110822722-110822723	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs568595999	chr3:110822728-110822729	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs145242764	chr3:110822884-110822885	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs540412951	chr3:110822929-110822930	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs560281128	chr3:110822963-110822964	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs529005323	chr3:110823020-110823021	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs548755333	chr3:110823102-110823103	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs374506934	chr3:110823124-110823125	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs9853370	chr3:110823236-110823237	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs111610019	chr3:110823243-110823244	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs551743236	chr3:110823270-110823271	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs571542532	chr3:110823271-110823272	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs151294922	chr3:110823286-110823287	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs534009444	chr3:110823316-110823317	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs149174229	chr3:110823324-110823325	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs79114637	chr3:110823341-110823342	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs535957102	chr3:110823347-110823348	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs140569612	chr3:110823351-110823352	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs555572642	chr3:110823358-110823359	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs145429794	chr3:110823364-110823365	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs184718468	chr3:110823367-110823368	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs116315470	chr3:110823390-110823391	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs529757449	chr3:110823405-110823406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577934576	chr3:110823414-110823415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112727157	chr3:110823439-110823440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188496764	chr3:110823463-110823464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554346017	chr3:110823464-110823465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574110125	chr3:110823475-110823476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142629397	chr3:110823481-110823482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181309122	chr3:110823525-110823526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184169480	chr3:110823539-110823540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545002965	chr3:110823541-110823542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564833164	chr3:110823542-110823543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58150219	chr3:110823629-110823630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527589396	chr3:110823638-110823639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547677265	chr3:110823641-110823642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144891286	chr3:110823654-110823655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189542962	chr3:110823660-110823661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73854903	chr3:110823708-110823709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540575413	chr3:110823754-110823755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110802000-110822600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:110805000-110833600	Weak transcription	NHDF-Ad	bronchial
3	chr3:110807200-110822600	Weak transcription	Fetal Lung	lung
4	chr3:110813800-110822600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:110816000-110827200	Weak transcription	Ovary	ovary
6	chr3:110816000-110837600	Weak transcription	Fetal Stomach	stomach
7	chr3:110816000-110873800	Weak transcription	Left Ventricle	heart
8	chr3:110816000-110893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:110817400-110855200	Weak transcription	Pancreas	Pancrea
10	chr3:110817600-110837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:110818600-110824600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:110818800-110823200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:110819200-110857200	Weak transcription	NHLF	lung
14	chr3:110820000-110827400	Weak transcription	Small Intestine	intestine
15	chr3:110820800-110824200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:110820800-110824200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:110821000-110824400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:110822600-110823000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:110822600-110823200	Enhancers	Dnd41	blood
20	chr3:110822600-110823400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:110822600-110823400	ZNF genes & repeats	Fetal Lung	lung
22	chr3:110822800-110824200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:110822800-110826400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:110823000-110823200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:110823200-110823400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:110823200-110823400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:110823200-110823400	Enhancers	Liver	Liver
28	chr3:110823200-110823400	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr3:110823200-110824200	Weak transcription	Dnd41	blood
30	chr3:110823400-110825800	Weak transcription	Liver	Liver
31	chr3:110823400-110826200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:110823400-110826200	Weak transcription	Fetal Lung	lung
33	chr3:110823400-110827600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:110823400-110838000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:110823400-110838000	Weak transcription	Fetal Intestine Small	intestine
36	chr3:110824200-110825800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:110824200-110826400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:110824200-110826600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr3:110824200-110827600	Enhancers	Dnd41	blood
40	chr3:110824200-110828200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr3:110824200-110832200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr3:110824400-110826800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr3:110824400-110827800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:110824600-110825000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:110824600-110825200	ZNF genes & repeats	Psoas Muscle	Psoas
46	chr3:110824600-110826600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr3:110824800-110825000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr3:110825000-110825200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr3:110825000-110825600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:110825000-110825800	Enhancers	H1 Cell Line	embryonic stem cell

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