Variant report

Variant	nsv874311
Chromosome Location	chr2:76389455-76492999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:518)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:76424996-76425327	K562	blood:	n/a	n/a
2	ARID3A	chr2:76420139-76420740	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:76399111-76399761	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:76478458-76478838	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:76415640-76415813	K562	blood:	n/a	n/a
6	ARID3A	chr2:76424999-76425360	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:76400302-76400537	HepG2	liver:	n/a	n/a
8	BATF	chr2:76431178-76431466	GM12878	blood:	n/a	n/a
9	BHLHE40	chr2:76430027-76430253	HepG2	liver:	n/a	n/a
10	BHLHE40	chr2:76420326-76420549	HepG2	liver:	n/a	n/a
11	BHLHE40	chr2:76415603-76415752	K562	blood:	n/a	n/a
12	BHLHE40	chr2:76431183-76431383	GM12878	blood:	n/a	n/a
13	CCNT2	chr2:76415553-76415931	K562	blood:	n/a	chr2:76415648-76415668
14	CEBPB	chr2:76439457-76439795	IMR90	lung:	n/a	chr2:76439634-76439645
15	CEBPB	chr2:76483654-76484283	MCF-7	breast:	n/a	n/a
16	CEBPB	chr2:76439462-76439814	HepG2	liver:	n/a	chr2:76439634-76439645
17	CEBPB	chr2:76438085-76438104	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr2:76439465-76439770	A549	lung:	n/a	chr2:76439634-76439645
19	CEBPB	chr2:76420169-76420556	HepG2	liver:	n/a	n/a
20	CEBPB	chr2:76459151-76459344	HepG2	liver:	n/a	chr2:76459199-76459210
21	CEBPB	chr2:76424979-76425292	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr2:76439465-76439799	K562	blood:	n/a	chr2:76439634-76439645
23	CEBPB	chr2:76424986-76425307	K562	blood:	n/a	n/a
24	CEBPB	chr2:76390702-76391265	HepG2	liver:	n/a	chr2:76390888-76390899
25	CEBPB	chr2:76424975-76425297	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:76486048-76486252	HepG2	liver:	n/a	chr2:76486149-76486166
27	CEBPB	chr2:76420201-76420452	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr2:76483646-76484274	MCF-7	breast:	n/a	n/a
29	CHD2	chr2:76492139-76492185	HepG2	liver:	n/a	n/a
30	CHD2	chr2:76482640-76482745	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr2:76488375-76488432	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr2:76424834-76424870	GM12892	blood:	n/a	n/a
33	CTCF	chr2:76425100-76425250	GM12872	blood:	n/a	n/a
34	CTCF	chr2:76425100-76425250	HEK293	kidney:	n/a	n/a
35	CTCF	chr2:76425075-76425193	GM19239	blood:	n/a	n/a
36	CTCF	chr2:76425060-76425210	A549	lung:	n/a	n/a
37	CTCF	chr2:76478500-76478650	GM12873	blood:	n/a	n/a
38	CTCF	chr2:76425114-76425188	NHEK	skin:	n/a	n/a
39	CTCF	chr2:76425100-76425250	GM12874	blood:	n/a	n/a
40	CTCF	chr2:76487840-76487990	HepG2	liver:	n/a	n/a
41	CTCF	chr2:76425020-76425284	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr2:76425060-76425210	GM12878	blood:	n/a	n/a
43	CTCF	chr2:76425140-76425290	GM12864	blood:	n/a	n/a
44	CTCF	chr2:76425040-76425190	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr2:76478600-76478750	GM12872	blood:	n/a	n/a
46	CTCF	chr2:76425100-76425250	GM12865	blood:	n/a	n/a
47	CTCF	chr2:76425140-76425290	HEK293	kidney:	n/a	n/a
48	CTCF	chr2:76478520-76478670	GM12872	blood:	n/a	n/a
49	CTCF	chr2:76425039-76425337	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr2:76424880-76425418	MCF-7	breast:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:76392889..76395299-chr2:76395591..76397638,2	MCF-7	breast:
2	chr2:76476209..76478643-chr2:76482713..76485500,2	MCF-7	breast:
3	chr2:76491531..76493683-chr2:76495220..76497956,2	K562	blood:
4	chr2:76451909..76454817-chr2:76457101..76460248,3	K562	blood:
5	chr2:76476209..76478643-chr2:76482713..76485500,2	MCF-7	breast:
6	chr2:76388397..76390343-chr2:76392560..76394463,2	K562	blood:
7	chr2:76392889..76395299-chr2:76395591..76397638,2	MCF-7	breast:
8	chr2:76466400..76468963-chr2:76475593..76477464,2	K562	blood:
9	chr2:76424788..76425711-chr2:76826568..76827565,9	MCF-7	breast:
10	chr2:76388397..76390343-chr2:76392560..76394463,2	K562	blood:
11	chr2:76414788..76417056-chr2:76429689..76431899,2	K562	blood:
12	chr2:76414788..76418633-chr2:76429689..76432839,3	K562	blood:
13	chr2:76414788..76417056-chr2:76429689..76431899,2	K562	blood:
14	chr14:39644932..39647081-chr2:76482059..76483713,2	MCF-7	breast:
15	chr2:76414788..76418633-chr2:76429689..76432839,3	K562	blood:
16	chr2:76466400..76468963-chr2:76475593..76477464,2	K562	blood:
17	chr2:76458156..76460040-chr2:76465460..76467241,2	K562	blood:
18	chr2:76458156..76460040-chr2:76465460..76467241,2	K562	blood:
19	chr2:76451909..76454817-chr2:76457101..76460248,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-7	chr2:76487881-76488787	NONHSAT071816

No data

Variant related genes	Relation type
ENSG00000228209	TF binding region
ENSG00000271356	TF binding region
ENSG00000259083	chromatin interactions

Extended variants
information (count: 1810 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1810 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114035157	chr2:76393445-76393446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559676743	chr2:76393448-76393449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183020677	chr2:76393612-76393613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139217676	chr2:76393618-76393619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187884872	chr2:76393656-76393657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529473307	chr2:76393673-76393674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550861163	chr2:76393675-76393676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192975367	chr2:76393693-76393694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533620637	chr2:76393697-76393698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149928573	chr2:76393719-76393720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566864992	chr2:76393774-76393775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537267983	chr2:76393790-76393791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6715683	chr2:76393801-76393802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34854665	chr2:76393830-76393831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13025684	chr2:76393836-76393837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73936908	chr2:76393841-76393842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538337499	chr2:76393873-76393874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs60395433	chr2:76393882-76393883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12622977	chr2:76393883-76393884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560369588	chr2:76393902-76393903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555891167	chr2:76393915-76393916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577423335	chr2:76393920-76393921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572657711	chr2:76393982-76393983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184395428	chr2:76394019-76394020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553850402	chr2:76394061-76394062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571984683	chr2:76394078-76394079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543855863	chr2:76394083-76394084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560955126	chr2:76394098-76394099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187585713	chr2:76394136-76394137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543546107	chr2:76394158-76394159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145034890	chr2:76394232-76394233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192355261	chr2:76394293-76394294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552101457	chr2:76394347-76394348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371777615	chr2:76394375-76394376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184949392	chr2:76394434-76394435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190794292	chr2:76394470-76394471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564156957	chr2:76394477-76394478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80263935	chr2:76394480-76394481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549077468	chr2:76394521-76394522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567651166	chr2:76394569-76394570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17702080	chr2:76394603-76394604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs149085898	chr2:76394606-76394607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571105420	chr2:76394627-76394628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34743837	chr2:76394682-76394683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs372423264	chr2:76394689-76394690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62164029	chr2:76394780-76394781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536569551	chr2:76394798-76394799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62164030	chr2:76394812-76394813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560446448	chr2:76394835-76394836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180846648	chr2:76394949-76394950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76393400-76394000	Enhancers	HepG2	liver
2	chr2:76394000-76397400	Weak transcription	HepG2	liver
3	chr2:76395600-76395800	Enhancers	Fetal Brain Male	brain
4	chr2:76395800-76396200	Enhancers	K562	blood
5	chr2:76395800-76396800	Weak transcription	Fetal Brain Male	brain
6	chr2:76396200-76396400	Weak transcription	K562	blood
7	chr2:76396400-76396800	Enhancers	K562	blood
8	chr2:76396800-76397600	Enhancers	Fetal Brain Male	brain
9	chr2:76396800-76397600	Weak transcription	K562	blood
10	chr2:76397400-76401400	Enhancers	HepG2	liver
11	chr2:76397600-76399000	Enhancers	K562	blood
12	chr2:76397800-76398200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:76398000-76398400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:76409400-76409800	Enhancers	HepG2	liver
15	chr2:76415200-76416400	Enhancers	K562	blood
16	chr2:76419000-76419800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:76419200-76420800	Enhancers	HepG2	liver
18	chr2:76420800-76424800	Weak transcription	HepG2	liver
19	chr2:76424400-76425200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:76424600-76424800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr2:76424600-76425000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:76424600-76425000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:76424600-76425200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:76424600-76425400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:76424800-76425000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:76424800-76425000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:76424800-76425000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr2:76424800-76425000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:76424800-76425200	Enhancers	Liver	Liver
30	chr2:76424800-76425200	Enhancers	HepG2	liver
31	chr2:76424800-76425400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr2:76425000-76437000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:76425200-76429800	Weak transcription	HepG2	liver
34	chr2:76427800-76429000	Enhancers	K562	blood
35	chr2:76428200-76428600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:76429800-76431000	Enhancers	HepG2	liver
37	chr2:76431000-76433200	Weak transcription	HepG2	liver
38	chr2:76433200-76434000	Enhancers	HepG2	liver
39	chr2:76435400-76436800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:76436800-76437000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:76436800-76438800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:76437000-76437200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:76437000-76438000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:76437400-76438000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:76437600-76437800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:76437800-76438600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:76438000-76438400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr2:76438000-76439000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:76438000-76440000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:76438400-76438800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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