Variant report

Variant	esv12560
Chromosome Location	chr2:172832837-172840816
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172838818..172840890-chr2:172863304..172865043,2	K562	blood:
2	chr2:172829487..172831818-chr2:172832495..172834513,2	MCF-7	breast:
3	chr2:172837079..172839859-chr2:172842621..172845693,4	K562	blood:
4	chr2:172836942..172840182-chr2:172865086..172867545,3	K562	blood:
5	chr2:172816856..172818552-chr2:172833224..172835365,2	K562	blood:
6	chr2:172837275..172840182-chr2:172865086..172867056,2	K562	blood:
7	chr2:172823483..172825325-chr2:172830958..172835156,3	K562	blood:
8	chr2:172835762..172838464-chr2:172846457..172848123,2	K562	blood:
9	chr2:172837171..172840943-chr2:172841139..172845693,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172878	chromatin interactions
ENSG00000115840	chromatin interactions

Extended variants
information (count: 232 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587628322	chr2:172832894-172832895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587683301	chr2:172832916-172832917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112099195	chr2:172833015-172833016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62183766	chr2:172833107-172833108	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs56775423	chr2:172833108-172833109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58002678	chr2:172833113-172833114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189636468	chr2:172833129-172833130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13004237	chr2:172833139-172833140	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs587754735	chr2:172833165-172833166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587677273	chr2:172833170-172833171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587711264	chr2:172833177-172833178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13004445	chr2:172833222-172833223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs370230337	chr2:172833223-172833224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374456691	chr2:172833249-172833250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111677606	chr2:172833258-172833259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112941052	chr2:172833269-172833270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112793305	chr2:172833273-172833274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71013102	chr2:172833327-172833328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112255160	chr2:172833337-172833338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587673711	chr2:172833350-172833351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370641064	chr2:172833404-172833405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373988308	chr2:172833433-172833434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587666662	chr2:172833468-172833469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368218363	chr2:172833549-172833550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587740213	chr2:172833565-172833566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79019374	chr2:172833617-172833618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587619734	chr2:172833620-172833621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147918589	chr2:172833621-172833622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76553195	chr2:172833624-172833625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587697317	chr2:172833698-172833699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190997149	chr2:172833716-172833717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587652220	chr2:172833776-172833777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183363645	chr2:172833777-172833778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10188587	chr2:172833782-172833783	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186608161	chr2:172833921-172833922	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587641191	chr2:172833940-172833941	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587682047	chr2:172833941-172833942	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587645784	chr2:172833954-172833955	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144491770	chr2:172834002-172834003	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587642053	chr2:172834007-172834008	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587713675	chr2:172834054-172834055	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148479310	chr2:172834096-172834097	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587599640	chr2:172834264-172834265	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587655070	chr2:172834348-172834349	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13395506	chr2:172834404-172834405	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs73976538	chr2:172834426-172834427	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs587609574	chr2:172834433-172834434	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs587653097	chr2:172834513-172834514	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs368036768	chr2:172834514-172834515	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs190445441	chr2:172834518-172834519	Weak transcription Strong transcription ZNF genes & repeats	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:377 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr2:172817800-172833800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:172817800-172833800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:172817800-172845200	Weak transcription	Psoas Muscle	Psoas
24	chr2:172821000-172838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
26	chr2:172821400-172835000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:172822000-172833800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:172822000-172835800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:172822600-172833800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:172822800-172835000	Strong transcription	Dnd41	blood
31	chr2:172823000-172833600	Weak transcription	Left Ventricle	heart
32	chr2:172823000-172835400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:172823000-172850400	Weak transcription	Right Ventricle	heart
34	chr2:172823200-172833400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:172823200-172835800	Weak transcription	Brain Germinal Matrix	brain
36	chr2:172823200-172843600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:172823800-172833600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:172823800-172839800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:172823800-172842600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:172823800-172843800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:172823800-172844000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr2:172823800-172851200	Weak transcription	Fetal Kidney	kidney
43	chr2:172824000-172833000	Weak transcription	Fetal Intestine Large	intestine
44	chr2:172824000-172833600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:172824000-172836800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:172824000-172841000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:172824000-172841200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:172824000-172842600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:172824000-172857800	Weak transcription	Brain Anterior Caudate	brain
50	chr2:172824000-172857800	Weak transcription	Brain Hippocampus Middle	brain

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