Variant report

Variant	nsv442838
Chromosome Location	chr2:172834843-172840385
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172837171..172840943-chr2:172841139..172845693,4	K562	blood:
2	chr2:172835762..172838464-chr2:172846457..172848123,2	K562	blood:
3	chr2:172838818..172840890-chr2:172863304..172865043,2	K562	blood:
4	chr2:172837079..172839859-chr2:172842621..172845693,4	K562	blood:
5	chr2:172836942..172840182-chr2:172865086..172867545,3	K562	blood:
6	chr2:172816856..172818552-chr2:172833224..172835365,2	K562	blood:
7	chr2:172837275..172840182-chr2:172865086..172867056,2	K562	blood:
8	chr2:172823483..172825325-chr2:172830958..172835156,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172878	chromatin interactions
ENSG00000115840	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs55968300	chr2:172834874-172834875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112313198	chr2:172834894-172834895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587696114	chr2:172834927-172834928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13018515	chr2:172834951-172834952	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs587655215	chr2:172834967-172834968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140208272	chr2:172835033-172835034	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192575294	chr2:172835074-172835075	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs587646242	chr2:172835077-172835078	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs375776376	chr2:172835150-172835151	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs587720161	chr2:172835157-172835158	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs184820039	chr2:172835175-172835176	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs145618557	chr2:172835247-172835248	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587738007	chr2:172835312-172835313	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587594625	chr2:172835336-172835337	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76350183	chr2:172835354-172835355	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587752104	chr2:172835370-172835371	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116520015	chr2:172835398-172835399	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587662493	chr2:172835496-172835497	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150615849	chr2:172835503-172835504	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587620027	chr2:172835517-172835518	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587701941	chr2:172835524-172835525	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587757624	chr2:172835554-172835555	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587630689	chr2:172835571-172835572	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587691834	chr2:172835651-172835652	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587770031	chr2:172835658-172835659	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62183767	chr2:172835680-172835681	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139689909	chr2:172835685-172835686	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587723239	chr2:172835696-172835697	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386652739	chr2:172835802-172835803	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35256122	chr2:172835803-172835804	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs369339005	chr2:172835869-172835870	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35771676	chr2:172835870-172835871	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140424865	chr2:172835918-172835919	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71015603	chr2:172835934-172835935	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10206375	chr2:172835943-172835944	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10195400	chr2:172835949-172835950	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111660252	chr2:172836006-172836007	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188783455	chr2:172836010-172836011	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79361552	chr2:172836018-172836019	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587594861	chr2:172836047-172836048	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587694999	chr2:172836081-172836082	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587729799	chr2:172836106-172836107	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149809031	chr2:172836123-172836124	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587655638	chr2:172836145-172836146	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62183768	chr2:172836158-172836159	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs35597559	chr2:172836180-172836181	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377716561	chr2:172836191-172836192	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587614512	chr2:172836202-172836203	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145752493	chr2:172836230-172836231	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587734642	chr2:172836267-172836268	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
5	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:172796000-172855200	Weak transcription	Gastric	stomach
7	chr2:172807400-172845400	Weak transcription	Spleen	Spleen
8	chr2:172808000-172847200	Weak transcription	Fetal Brain Female	brain
9	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:172809800-172837800	Weak transcription	Esophagus	oesophagus
11	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:172811400-172846200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:172811800-172852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
15	chr2:172812400-172845200	Weak transcription	Colonic Mucosa	Colon
16	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
17	chr2:172814000-172844400	Weak transcription	Pancreas	Pancrea
18	chr2:172815200-172835800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:172815400-172850000	Weak transcription	HSMMtube	muscle
20	chr2:172816800-172844200	Weak transcription	NHLF	lung
21	chr2:172817800-172845200	Weak transcription	Psoas Muscle	Psoas
22	chr2:172821000-172838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
24	chr2:172821400-172835000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:172822000-172835800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:172822800-172835000	Strong transcription	Dnd41	blood
27	chr2:172823000-172835400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:172823000-172850400	Weak transcription	Right Ventricle	heart
29	chr2:172823200-172835800	Weak transcription	Brain Germinal Matrix	brain
30	chr2:172823200-172843600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:172823800-172839800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:172823800-172842600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:172823800-172843800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:172823800-172844000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:172823800-172851200	Weak transcription	Fetal Kidney	kidney
36	chr2:172824000-172836800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:172824000-172841000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:172824000-172841200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:172824000-172842600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:172824000-172857800	Weak transcription	Brain Anterior Caudate	brain
41	chr2:172824000-172857800	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:172824200-172838400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:172824200-172850000	Weak transcription	NHDF-Ad	bronchial
44	chr2:172824200-172850400	Weak transcription	HMEC	breast
45	chr2:172824400-172836800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:172824400-172843800	Weak transcription	NHEK	skin
47	chr2:172824400-172847200	Weak transcription	NH-A	brain
48	chr2:172824600-172837800	Weak transcription	HSMM	muscle
49	chr2:172825000-172835400	Weak transcription	Fetal Lung	lung
50	chr2:172825400-172837200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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