Variant report

Variant	nsv589936
Chromosome Location	chr3:22183438-22207033
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	chr3:22195364..22197977-chr3:22208185..22210526,2	K562	blood:
2	chr3:22202679..22204689-chr3:22233994..22235730,2	K562	blood:

Variant related genes	Relation type
ENSG00000151789	chromatin interactions

Extended variants
information (count: 975 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:975 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7618885	chr3:22183438-22183439	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553824070	chr3:22183449-22183450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115857941	chr3:22183477-22183478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560605133	chr3:22183507-22183508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567957122	chr3:22183519-22183520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183576816	chr3:22183526-22183527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370261510	chr3:22183538-22183539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561811419	chr3:22183545-22183546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374482396	chr3:22183587-22183588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7629007	chr3:22183589-22183590	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs74548800	chr3:22183597-22183598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186623952	chr3:22190443-22190444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576676541	chr3:22190448-22190449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191805470	chr3:22190470-22190471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182540261	chr3:22190488-22190489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540566273	chr3:22190493-22190494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138678619	chr3:22190512-22190513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200699354	chr3:22190560-22190561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187585493	chr3:22190566-22190567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6807340	chr3:22190567-22190568	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149357228	chr3:22190600-22190601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531097317	chr3:22190610-22190611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367812531	chr3:22190623-22190624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370202514	chr3:22190647-22190648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3912829	chr3:22190651-22190652	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192955338	chr3:22190665-22190666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17648344	chr3:22190694-22190695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6796812	chr3:22190729-22190730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs144715442	chr3:22190746-22190747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185217058	chr3:22190751-22190752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76509892	chr3:22190758-22190759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549172270	chr3:22190795-22190796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78006581	chr3:22190801-22190802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75345836	chr3:22190827-22190828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71312031	chr3:22190833-22190834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557965678	chr3:22190856-22190857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3912828	chr3:22190858-22190859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568914851	chr3:22190873-22190874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555701925	chr3:22190892-22190893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17010896	chr3:22190902-22190903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190544348	chr3:22190913-22190914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142912778	chr3:22190937-22190938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544910929	chr3:22190953-22190954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575629089	chr3:22190961-22190962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540042067	chr3:22190965-22190966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147312045	chr3:22190966-22190967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528708920	chr3:22190997-22190998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78053538	chr3:22191030-22191031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116393805	chr3:22191036-22191037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193249730	chr3:22191081-22191082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22183000-22183600	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr3:22190400-22191000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:22191000-22195200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:22191400-22193400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:22191600-22193000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:22192600-22193200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr3:22193000-22198200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:22195600-22195800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:22197800-22198000	Enhancers	Psoas Muscle	Psoas
10	chr3:22197800-22198200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr3:22197800-22198400	Enhancers	Fetal Intestine Small	intestine
12	chr3:22197800-22198600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:22198000-22198600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:22198000-22202600	Enhancers	Liver	Liver
15	chr3:22198200-22198600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:22198200-22198600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:22198200-22198800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:22198800-22208000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:22199800-22201400	Weak transcription	Psoas Muscle	Psoas
20	chr3:22200000-22200600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr3:22200200-22200400	Enhancers	Fetal Intestine Small	intestine
22	chr3:22201400-22201600	Enhancers	Psoas Muscle	Psoas
23	chr3:22201600-22209000	Weak transcription	Psoas Muscle	Psoas
24	chr3:22202200-22202400	Enhancers	Fetal Lung	lung
25	chr3:22202400-22208600	Weak transcription	Fetal Lung	lung
26	chr3:22203600-22204000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr3:22206400-22206800	Enhancers	Fetal Heart	heart

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