Variant report

Variant	nsv818044
Chromosome Location	chr2:73859184-73906819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:230)
CpG islands
(count:1037)
Chromatin interactive
region (count:10)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:230 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:73867690-73868035	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:73869857-73870120	HepG2	liver:	n/a	n/a
3	ATF2	chr2:73901924-73902346	GM12878	blood:	n/a	n/a
4	ATF3	chr2:73903390-73903706	K562	blood:	n/a	n/a
5	BATF	chr2:73901777-73902343	GM12878	blood:	n/a	n/a
6	BATF	chr2:73901924-73902350	GM12878	blood:	n/a	n/a
7	BCL11A	chr2:73901938-73902290	GM12878	blood:	n/a	chr2:73902211-73902220 chr2:73902210-73902219
8	BHLHE40	chr2:73871815-73871977	K562	blood:	n/a	n/a
9	CBX3	chr2:73865650-73865822	K562	blood:	n/a	n/a
10	CEBPB	chr2:73903375-73903643	IMR90	lung:	n/a	chr2:73903539-73903550
11	CEBPB	chr2:73869492-73869669	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:73903357-73903734	K562	blood:	n/a	chr2:73903539-73903550
13	CEBPB	chr2:73865645-73865764	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr2:73903369-73903615	HepG2	liver:	n/a	chr2:73903539-73903550
15	CEBPB	chr2:73877646-73878600	HepG2	liver:	n/a	chr2:73878449-73878460
16	CEBPB	chr2:73900813-73900977	K562	blood:	n/a	chr2:73900873-73900886
17	CEBPB	chr2:73877667-73878169	A549	lung:	n/a	n/a
18	CEBPB	chr2:73903410-73903643	K562	blood:	n/a	chr2:73903539-73903550
19	CEBPB	chr2:73867669-73868041	HepG2	liver:	n/a	chr2:73867845-73867858
20	CEBPB	chr2:73859061-73859298	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:73877771-73878092	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr2:73903365-73903683	K562	blood:	n/a	chr2:73903539-73903550
23	CEBPB	chr2:73903414-73903663	A549	lung:	n/a	chr2:73903539-73903550
24	CEBPB	chr2:73867840-73867965	A549	lung:	n/a	chr2:73867845-73867858
25	CEBPB	chr2:73900871-73900878	A549	lung:	n/a	n/a
26	CEBPB	chr2:73903437-73903637	H1-hESC	embryonic stem cell:	n/a	chr2:73903539-73903550
27	CEBPB	chr2:73903402-73903602	Hela-S3	cervix:	n/a	chr2:73903539-73903550
28	CEBPB	chr2:73869936-73870184	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:73877660-73878170	IMR90	lung:	n/a	n/a
30	CEBPB	chr2:73867603-73868071	MCF-7	breast:	n/a	chr2:73867845-73867858
31	CEBPB	chr2:73877993-73878055	K562	blood:	n/a	n/a
32	CEBPB	chr2:73867630-73868101	MCF-7	breast:	n/a	chr2:73867845-73867858
33	CEBPB	chr2:73869472-73869730	HepG2	liver:	n/a	n/a
34	CHD2	chr2:73869804-73870074	HepG2	liver:	n/a	n/a
35	CTCF	chr2:73870836-73870861	Lung_OC	lung:	n/a	n/a
36	CTCF	chr2:73874960-73875110	HepG2	liver:	n/a	n/a
37	CTCF	chr2:73874960-73875110	RPTEC	kidney:	n/a	n/a
38	CTCF	chr2:73902036-73902129	GM10266	blood:	n/a	n/a
39	CTCF	chr2:73868740-73868890	HepG2	liver:	n/a	n/a
40	CTCF	chr2:73901987-73902164	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr2:73869640-73869790	HepG2	liver:	n/a	n/a
42	CTCF	chr2:73874890-73875016	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:73874888-73875021	MCF-7	breast:	n/a	n/a
44	CTCF	chr2:73879234-73879237	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr2:73891902-73891943	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr2:73874804-73875161	K562	blood:	n/a	n/a
47	CTCF	chr2:73906780-73906930	GM12872	blood:	n/a	n/a
48	CTCF	chr2:73877571-73877588	GM13976	blood:	n/a	n/a
49	CTCF	chr2:73869520-73869670	RPTEC	kidney:	n/a	n/a
50	CTCF	chr2:73902007-73902158	GM12878	blood:	n/a	n/a

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:73871915-73871965	MCF10A-Er-Src	breast:	n/a
2	chr2:73871230-73871280	HRE	kidney:	n/a
3	chr2:73871942-73871992	CMK	blood:	n/a
4	chr2:73867196-73867246	K562	blood:	n/a
5	chr2:73871915-73871965	HCF	heart:	n/a
6	chr2:73871309-73871359	AG09319	gingival:	n/a
7	chr2:73869516-73869566	SKMC	muscle:	n/a
8	chr2:73871309-73871359	MCF-7	breast:	n/a
9	chr2:73871230-73871280	MCF10A-Er-Src	breast:	n/a
10	chr2:73871230-73871280	HRCEpiC	kidney:	n/a
11	chr2:73870105-73870155	Caco-2	colon:	n/a
12	chr2:73871782-73871832	GM06990	blood:	n/a
13	chr2:73870653-73870703	H1-hESC	embryonic stem cell:	embryo
14	chr2:73870653-73870703	U87	brain:	n/a
15	chr2:73868736-73868786	ECC-1	luminal epithelium:	n/a
16	chr2:73868736-73868786	AG04450	lung:	fetal
17	chr2:73868917-73868967	HCF	heart:	n/a
18	chr2:73871855-73871905	AG09309	skin:	n/a
19	chr2:73871230-73871280	NHBE	bronchial:	n/a
20	chr2:73871855-73871905	U87	brain:	n/a
21	chr2:73869516-73869566	PrEC	prostate:	n/a
22	chr2:73870105-73870155	HRE	kidney:	n/a
23	chr2:73871855-73871905	H1-hESC	embryonic stem cell:	embryo
24	chr2:73868919-73868969	HEEpiC	esophagus:	n/a
25	chr2:73869966-73870016	HUVEC	blood vessel:	n/a
26	chr2:73871309-73871359	PFSK-1	brain:	n/a
27	chr2:73868917-73868967	A549	lung:	n/a
28	chr2:73868917-73868967	HUVEC	blood vessel:	n/a
29	chr2:73871915-73871965	K562	blood:	n/a
30	chr2:73870294-73870344	GM19239	blood:	n/a
31	chr2:73871942-73871992	AG09309	skin:	n/a
32	chr2:73871849-73871899	SK-N-MC	brain:	n/a
33	chr2:73871849-73871899	GM12892	blood:	n/a
34	chr2:73870294-73870344	MCF10A-Er-Src	breast:	n/a
35	chr2:73869516-73869566	GM12891	blood:	n/a
36	chr2:73867196-73867246	NHDF-neo	bronchial:	n/a
37	chr2:73869666-73869716	IMR90	lung:	fetal
38	chr2:73871915-73871965	HNPCEpiC	eye:	n/a
39	chr2:73868917-73868967	GM06990	blood:	n/a
40	chr2:73870653-73870703	MCF-7	breast:	n/a
41	chr2:73871942-73871992	GM06990	blood:	n/a
42	chr2:73871309-73871359	NH-A	brain:	n/a
43	chr2:73869966-73870016	MCF-7	breast:	n/a
44	chr2:73869516-73869566	NHBE	bronchial:	n/a
45	chr2:73871855-73871905	GM12891	blood:	n/a
46	chr2:73870653-73870703	AG10803	skin:	n/a
47	chr2:73868736-73868786	HRPEpiC	eye:	n/a
48	chr2:73870653-73870703	ECC-1	luminal epithelium:	n/a
49	chr2:73871782-73871832	IMR90	lung:	fetal
50	chr2:73871855-73871905	PANC-1	pancreas:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73888338..73891192-chr2:73900081..73901857,2	K562	blood:
2	chr2:73880223..73882700-chr2:73884731..73886778,2	K562	blood:
3	chr2:73906056..73907836-chr2:74356105..74358909,2	MCF-7	breast:
4	chr2:73868945..73872912-chr2:73927731..73932752,4	MCF-7	breast:
5	chr2:73863562..73865457-chr2:73866043..73867971,2	MCF-7	breast:
6	chr2:73878117..73880708-chr2:73881565..73884435,2	K562	blood:
7	chr2:73880223..73882700-chr2:73884731..73886778,2	K562	blood:
8	chr2:73878117..73880708-chr2:73881565..73884435,2	K562	blood:
9	chr2:73863562..73865457-chr2:73866043..73867971,2	MCF-7	breast:
10	chr2:73888338..73891192-chr2:73900081..73901857,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALMS1-3	chr2:73901969-73902032	NR_003683
2	lnc-ALMS1-2	chr2:73868076-73868755	NONHSAT071625
3	lnc-ALMS1-3	chr2:73872046-73872281	NR_003683
4	lnc-ALMS1-3	chr2:73900940-73901123	NR_003683
5	lnc-ALMS1-3	chr2:73899436-73899622	NR_003683
6	lnc-ALMS1-3	chr2:73899935-73900177	NR_003683
7	lnc-ALMS1-3	chr2:73898207-73898277	NR_003683

No data

Variant related genes	Relation type
ALMS1P	TF binding region
NAT8	TF binding region
ALMS1P	CpG island
NAT8	CpG island
ENSG00000204872	chromatin interactions

Extended variants
information (count: 1604 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1604 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182320095	chr2:73859809-73859810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538078802	chr2:73859914-73859915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556826517	chr2:73859922-73859923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578135353	chr2:73859959-73859960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545560637	chr2:73859971-73859972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554207607	chr2:73860008-73860009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572356297	chr2:73860016-73860017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540506470	chr2:73860053-73860054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540485522	chr2:73860063-73860064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141770396	chr2:73860105-73860106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28708576	chr2:73860141-73860142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543986887	chr2:73860143-73860144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562382446	chr2:73860156-73860157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111544465	chr2:73860163-73860164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6729347	chr2:73860196-73860197	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551065765	chr2:73860205-73860206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566422663	chr2:73860248-73860249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375843519	chr2:73860265-73860266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186550634	chr2:73860295-73860296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549625841	chr2:73860301-73860302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567844879	chr2:73860314-73860315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6546862	chr2:73860348-73860349	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs556789548	chr2:73860361-73860362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571918545	chr2:73860364-73860365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6546863	chr2:73860396-73860397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112800859	chr2:73860403-73860404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190966117	chr2:73860438-73860439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572375593	chr2:73860466-73860467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4852310	chr2:73860525-73860526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs554980910	chr2:73860546-73860547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573843504	chr2:73860550-73860551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544147786	chr2:73860577-73860578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183063534	chr2:73860581-73860582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565891953	chr2:73860585-73860586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532971168	chr2:73860622-73860623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537991163	chr2:73860644-73860645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368870747	chr2:73860650-73860651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544669818	chr2:73860657-73860658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560013232	chr2:73860676-73860677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188688462	chr2:73860746-73860747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79015448	chr2:73860794-73860795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567296693	chr2:73860811-73860812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528271790	chr2:73860897-73860898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11126407	chr2:73860899-73860900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs370732234	chr2:73860931-73860932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78690384	chr2:73860946-73860947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76817486	chr2:73860947-73860948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35525097	chr2:73860948-73860949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550500849	chr2:73860951-73860952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149270048	chr2:73860957-73860958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73859800-73860400	Enhancers	Ovary	ovary
2	chr2:73860400-73867000	Weak transcription	Ovary	ovary
3	chr2:73863600-73863800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr2:73863800-73864600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:73864200-73867400	Enhancers	Liver	Liver
6	chr2:73864400-73865000	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr2:73864400-73865400	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:73864600-73865400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr2:73864600-73865600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:73865000-73865200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr2:73865200-73865400	Enhancers	Stomach Smooth Muscle	stomach
12	chr2:73865200-73867600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:73865400-73868000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:73865400-73868000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:73865600-73867200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:73866200-73867200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:73866200-73870600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:73866400-73866600	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:73866400-73866600	Enhancers	Right Atrium	heart
20	chr2:73866400-73866800	ZNF genes & repeats	Spleen	Spleen
21	chr2:73866400-73868800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:73866400-73871200	Enhancers	Fetal Lung	lung
23	chr2:73866600-73867600	Enhancers	HepG2	liver
24	chr2:73866800-73867800	Weak transcription	Spleen	Spleen
25	chr2:73867000-73867400	Enhancers	Placenta	Placenta
26	chr2:73867000-73868200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:73867000-73868600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr2:73867000-73872200	Enhancers	Ovary	ovary
29	chr2:73867200-73869000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:73867200-73869800	Enhancers	Colonic Mucosa	Colon
31	chr2:73867400-73867800	Weak transcription	Placenta	Placenta
32	chr2:73867400-73868400	Enhancers	Brain Hippocampus Middle	brain
33	chr2:73867400-73868600	Enhancers	Adipose Nuclei	Adipose
34	chr2:73867400-73868600	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:73867400-73869800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:73867400-73870200	Flanking Active TSS	Liver	Liver
37	chr2:73867400-73870200	Enhancers	Fetal Intestine Large	intestine
38	chr2:73867600-73867800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr2:73867600-73868000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr2:73867600-73868000	Flanking Active TSS	HepG2	liver
41	chr2:73867600-73868200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:73867600-73868200	Enhancers	Brain Anterior Caudate	brain
43	chr2:73867600-73868400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:73867600-73868400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:73867600-73868400	Enhancers	Pancreas	Pancrea
46	chr2:73867600-73868600	Enhancers	Brain Angular Gyrus	brain
47	chr2:73867600-73868600	Enhancers	Brain Substantia Nigra	brain
48	chr2:73867600-73868600	Enhancers	Lung	lung
49	chr2:73867600-73868600	Enhancers	Stomach Mucosa	stomach
50	chr2:73867600-73872200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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