Variant report

Variant	nsv2841
Chromosome Location	chr2:99296874-99342362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:263)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:99318848-99319344	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:99321102-99321665	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:99308018-99308101	HepG2	liver:	n/a	n/a
4	ATF2	chr2:99329899-99330733	GM12878	blood:	n/a	n/a
5	ATF2	chr2:99330027-99330608	GM12878	blood:	n/a	n/a
6	BATF	chr2:99330023-99330500	GM12878	blood:	n/a	chr2:99330209-99330220
7	BATF	chr2:99329923-99330536	GM12878	blood:	n/a	chr2:99330209-99330220
8	BCL11A	chr2:99330069-99330355	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:99329934-99330569	GM12878	blood:	n/a	n/a
10	BCL3	chr2:99330025-99330478	GM12878	blood:	n/a	n/a
11	BCLAF1	chr2:99329937-99330607	GM12878	blood:	n/a	n/a
12	BHLHE40	chr2:99330093-99330447	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:99321276-99321578	HepG2	liver:	n/a	n/a
14	BHLHE40	chr2:99318552-99319249	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:99317654-99317965	IMR90	lung:	n/a	chr2:99317807-99317816 chr2:99317805-99317816 chr2:99317807-99317816 chr2:99317807-99317816 chr2:99317807-99317816
16	CEBPB	chr2:99331165-99331353	HepG2	liver:	n/a	chr2:99331228-99331239
17	CEBPB	chr2:99329901-99330696	GM12878	blood:	n/a	n/a
18	CEBPB	chr2:99317683-99317977	MCF-7	breast:	n/a	chr2:99317807-99317816 chr2:99317805-99317816 chr2:99317807-99317816 chr2:99317807-99317816 chr2:99317807-99317816
19	CEBPB	chr2:99321234-99321463	HepG2	liver:	n/a	n/a
20	CEBPB	chr2:99317729-99317865	HepG2	liver:	n/a	chr2:99317807-99317816 chr2:99317805-99317816 chr2:99317807-99317816 chr2:99317807-99317816 chr2:99317807-99317816
21	CEBPB	chr2:99317632-99317991	HepG2	liver:	n/a	chr2:99317807-99317816 chr2:99317805-99317816 chr2:99317807-99317816 chr2:99317807-99317816 chr2:99317807-99317816
22	CEBPD	chr2:99318815-99319178	HepG2	liver:	n/a	n/a
23	CHD2	chr2:99330061-99330419	GM12878	blood:	n/a	n/a
24	CHD2	chr2:99318706-99319183	HepG2	liver:	n/a	n/a
25	CREB1	chr2:99330063-99330436	GM12878	blood:	n/a	n/a
26	CTCF	chr2:99302440-99302590	RPTEC	kidney:	n/a	n/a
27	CTCF	chr2:99302400-99302550	HRE	kidney:	n/a	n/a
28	CTCF	chr2:99319780-99319930	GM06990	blood:	n/a	n/a
29	CTCF	chr2:99319020-99319170	HepG2	liver:	n/a	n/a
30	CTCF	chr2:99330540-99330690	GM12866	blood:	n/a	n/a
31	CTCF	chr2:99319824-99319951	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr2:99298786-99298873	MCF-7	breast:	n/a	n/a
33	CTCF	chr2:99319760-99319910	AG10803	skin:	n/a	n/a
34	CTCF	chr2:99330580-99330730	GM12872	blood:	n/a	n/a
35	CTCF	chr2:99319760-99319910	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr2:99319800-99319950	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr2:99319800-99319950	HPF	lung:	n/a	n/a
38	CTCF	chr2:99319800-99319950	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr2:99302360-99302510	HRE	kidney:	n/a	n/a
40	CTCF	chr2:99302323-99302476	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr2:99321280-99321430	Caco-2	colon:	n/a	n/a
42	CTCF	chr2:99307760-99307910	A549	lung:	n/a	n/a
43	CTCF	chr2:99319800-99319950	HMF	breast:	n/a	n/a
44	CTCF	chr2:99319800-99319950	BJ	skin:	n/a	n/a
45	CTCF	chr2:99312055-99312133	Lung_OC	lung:	n/a	n/a
46	CTCF	chr2:99319800-99319950	HCFaa	heart:	n/a	n/a
47	CTCF	chr2:99319800-99319950	AG04450	lung:	n/a	n/a
48	CTCF	chr2:99303060-99303210	RPTEC	kidney:	n/a	n/a
49	CTCF	chr2:99303040-99303190	RPTEC	kidney:	n/a	n/a
50	CTCF	chr2:99319780-99319930	BJ	skin:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99316162..99318899-chr2:99339583..99342162,2	MCF-7	breast:
2	chr2:99329459..99332003-chr2:99335709..99337859,2	MCF-7	breast:
3	chr2:99342228..99344879-chr2:99346177..99348874,2	K562	blood:
4	chr2:99295601..99297779-chr2:99317572..99320188,2	K562	blood:
5	chr2:99320303..99322866-chr2:99324363..99327818,3	MCF-7	breast:
6	chr2:99316162..99318899-chr2:99339583..99342162,2	MCF-7	breast:
7	chr2:99301026..99304352-chr2:99305405..99307955,3	K562	blood:
8	chr2:99299792..99302673-chr2:99315201..99317831,2	MCF-7	breast:
9	chr2:99296638..99298946-chr2:99305631..99307983,2	MCF-7	breast:
10	chr2:99296638..99298946-chr2:99305631..99307983,2	MCF-7	breast:
11	chr2:99302882..99305773-chr2:99446334..99448179,2	MCF-7	breast:
12	chr2:99336480..99339286-chr2:99347871..99349769,2	MCF-7	breast:
13	chr2:99299792..99302673-chr2:99315201..99317831,2	MCF-7	breast:
14	chr2:99332357..99333866-chr2:99344670..99347230,2	MCF-7	breast:
15	chr2:99320303..99322866-chr2:99324363..99327818,3	MCF-7	breast:
16	chr2:99329459..99332003-chr2:99335709..99337859,2	MCF-7	breast:
17	chr2:99307361..99309748-chr2:99317489..99320461,2	MCF-7	breast:
18	chr2:99324587..99327520-chr2:99346109..99348267,2	MCF-7	breast:
19	chr2:99334922..99337052-chr2:99339872..99343548,3	MCF-7	breast:
20	chr2:99334681..99338238-chr2:99344696..99347399,3	MCF-7	breast:
21	chr2:99301026..99304352-chr2:99305405..99307955,3	K562	blood:
22	chr2:99338843..99341034-chr2:99341737..99344169,2	MCF-7	breast:
23	chr2:99302991..99304578-chr2:99308334..99311167,2	K562	blood:
24	chr2:99307361..99309748-chr2:99317489..99320461,2	MCF-7	breast:
25	chr2:99295601..99297779-chr2:99317572..99320188,2	K562	blood:
26	chr2:99341666..99344183-chr2:99455107..99457899,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC50-6	chr2:99315269-99315571	NONHSAT072719
2	lnc-UNC50-6	chr2:99324010-99324467	NONHSAT072719

No data

Variant related genes	Relation type
YWHAQP5	TF binding region
ENSG00000071073	chromatin interactions
ENSG00000236564	chromatin interactions
ENSG00000238830	chromatin interactions

Extended variants
information (count: 1536 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1536 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72825760	chr2:99296935-99296936	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146993116	chr2:99296946-99296947	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559085668	chr2:99296968-99296969	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6755884	chr2:99297004-99297005	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564786164	chr2:99297026-99297027	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545283315	chr2:99297028-99297029	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375044713	chr2:99297033-99297034	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565154467	chr2:99297042-99297043	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530982582	chr2:99297046-99297047	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576118339	chr2:99297066-99297067	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550799683	chr2:99297067-99297068	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532176996	chr2:99297084-99297085	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543902367	chr2:99297151-99297152	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367740105	chr2:99297176-99297177	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147688233	chr2:99297222-99297223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6743020	chr2:99297259-99297260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs56070038	chr2:99297311-99297312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541422416	chr2:99297327-99297328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566848815	chr2:99297329-99297330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534948609	chr2:99297348-99297349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560117819	chr2:99297349-99297350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140974456	chr2:99297363-99297364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116142506	chr2:99297377-99297378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530880417	chr2:99297393-99297394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146230473	chr2:99297438-99297439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58067622	chr2:99297455-99297456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556870117	chr2:99297468-99297469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573729478	chr2:99297476-99297477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542337670	chr2:99297478-99297479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571746206	chr2:99297485-99297486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375850597	chr2:99297496-99297497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191210185	chr2:99297508-99297509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567646025	chr2:99297509-99297510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11892511	chr2:99297531-99297532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531019131	chr2:99297570-99297571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533664445	chr2:99297571-99297572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561320268	chr2:99297594-99297595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372083933	chr2:99297595-99297596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530238718	chr2:99297596-99297597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369777707	chr2:99297602-99297603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10207277	chr2:99297607-99297608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566885470	chr2:99297610-99297611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10207287	chr2:99297646-99297647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551701591	chr2:99297709-99297710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571932367	chr2:99297713-99297714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145892744	chr2:99297722-99297723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186994010	chr2:99297724-99297725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189817155	chr2:99297794-99297795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182099271	chr2:99297807-99297808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536364114	chr2:99297853-99297854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1246 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99234600-99310600	Weak transcription	Small Intestine	intestine
2	chr2:99249800-99318000	Weak transcription	Psoas Muscle	Psoas
3	chr2:99251600-99302000	Weak transcription	Brain Angular Gyrus	brain
4	chr2:99251600-99306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:99255600-99306800	Weak transcription	Colonic Mucosa	Colon
6	chr2:99264600-99299000	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:99265600-99306600	Weak transcription	Lung	lung
8	chr2:99265800-99303800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:99266400-99304200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:99276000-99301400	Weak transcription	Aorta	Aorta
11	chr2:99279200-99302200	Weak transcription	Right Ventricle	heart
12	chr2:99282800-99306600	Weak transcription	Left Ventricle	heart
13	chr2:99286400-99301400	Weak transcription	Pancreas	Pancrea
14	chr2:99286800-99304800	Weak transcription	Gastric	stomach
15	chr2:99288000-99310000	Weak transcription	Thymus	Thymus
16	chr2:99291400-99299800	Weak transcription	HUVEC	blood vessel
17	chr2:99291400-99302000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:99291600-99302200	Weak transcription	Liver	Liver
19	chr2:99291600-99302200	Weak transcription	Brain Anterior Caudate	brain
20	chr2:99291600-99302200	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:99291800-99299000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:99292000-99310400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:99292200-99298400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:99292200-99306600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:99292200-99312800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:99293400-99325200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:99293800-99300000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:99293800-99302000	Weak transcription	HepG2	liver
29	chr2:99294000-99300200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:99294000-99302000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:99294000-99304200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:99294200-99298000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:99294200-99300000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:99294200-99313600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:99294200-99315000	Weak transcription	Fetal Intestine Large	intestine
36	chr2:99294400-99315000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:99294400-99318600	Weak transcription	Spleen	Spleen
38	chr2:99294600-99297000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:99294600-99306600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:99294600-99312600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr2:99294600-99314200	Weak transcription	Fetal Intestine Small	intestine
42	chr2:99295000-99300800	Weak transcription	Primary T cells from cord blood	blood
43	chr2:99295000-99306000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:99295000-99325200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:99295200-99312600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr2:99295600-99299600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:99295600-99302400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:99295600-99310000	Weak transcription	Fetal Thymus	thymus
49	chr2:99295600-99310400	Weak transcription	Dnd41	blood
50	chr2:99296000-99297200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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