Variant report

Variant	esv3496927
Chromosome Location	chr2:173179301-173186587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr2:173185901-173186116	GM12878	blood:	n/a	n/a
2	FOXA2	chr2:173180149-173180735	A549	lung:	n/a	n/a
3	FOXA2	chr2:173180175-173180704	A549	lung:	n/a	n/a
4	FOXA2	chr2:173185923-173186231	A549	lung:	n/a	n/a
5	HEY1	chr2:173179915-173180125	K562	blood:	n/a	n/a
6	NR3C1	chr2:173185975-173186161	A549	lung:	n/a	n/a
7	POLR2A	chr2:173180018-173180064	K562	blood:	n/a	n/a
8	POLR2A	chr2:173179947-173180176	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr2:173186011-173186104	GM12878	blood:	n/a	n/a
10	REST	chr2:173185974-173186111	PANC-1	pancreas:	n/a	n/a
11	SRF	chr2:173185966-173186070	GM12878	blood:	n/a	n/a
12	YY1	chr2:173179915-173180118	K562	blood:	n/a	n/a
13	YY1	chr2:173179882-173180075	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGA6-1	chr2:173180015-173180136	XLOC_001757
2	lnc-ITGA6-2	chr2:173180016-173180136	NONHSAT075499

No data

Variant related genes	Relation type
ENSG00000232555	TF binding region
KIAA0319L	miRNA target sites

Extended variants
information (count: 116 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573950692	chr2:173179314-173179315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534701107	chr2:173179318-173179319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117560384	chr2:173179319-173179320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184442271	chr2:173179332-173179333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374000740	chr2:173179343-173179344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368278556	chr2:173179359-173179360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545566205	chr2:173179383-173179384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10182113	chr2:173179396-173179397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75316639	chr2:173179459-173179460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10182136	chr2:173179471-173179472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141060981	chr2:173179482-173179483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375377127	chr2:173179506-173179507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189715130	chr2:173179515-173179516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547422959	chr2:173179528-173179529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62167431	chr2:173179543-173179544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533079305	chr2:173179627-173179628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551536799	chr2:173179645-173179646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6720311	chr2:173179651-173179652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150313237	chr2:173179683-173179684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541269443	chr2:173179694-173179695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112646486	chr2:173179700-173179701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113445082	chr2:173179701-173179702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537700488	chr2:173179702-173179703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57473898	chr2:173179706-173179707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs62167432	chr2:173179710-173179711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568009394	chr2:173179717-173179718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534665069	chr2:173179738-173179739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536988298	chr2:173179739-173179740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111632140	chr2:173179740-173179741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538731239	chr2:173179780-173179781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376553461	chr2:173179788-173179789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60492030	chr2:173179803-173179804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554153282	chr2:173179823-173179824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61123840	chr2:173179864-173179865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113455898	chr2:173179868-173179869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543606228	chr2:173179869-173179870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555330995	chr2:173179874-173179875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73016896	chr2:173179913-173179914	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540998048	chr2:173179973-173179974	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs71407944	chr2:173179996-173179997	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs4972791	chr2:173179998-173179999	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs544776065	chr2:173180016-173180017	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs563402531	chr2:173180030-173180031	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs4972485	chr2:173180034-173180035	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs549570540	chr2:173180049-173180050	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs112878802	chr2:173180162-173180163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567592698	chr2:173180166-173180167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528739707	chr2:173180167-173180168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546923062	chr2:173180205-173180206	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370280428	chr2:173180248-173180249	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173173000-173181600	Weak transcription	Right Atrium	heart
2	chr2:173180200-173180600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:173185800-173186200	Active TSS	GM12878-XiMat	blood
4	chr2:173186200-173186600	ZNF genes & repeats	Fetal Kidney	kidney

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