Variant report

Variant	nsv874312
Chromosome Location	chr2:76430941-76500077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:234)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:234 , 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	chr2:76478458-76478838	HepG2	liver:	n/a	n/a
2	BATF	chr2:76431178-76431466	GM12878	blood:	n/a	n/a
3	BHLHE40	chr2:76431183-76431383	GM12878	blood:	n/a	n/a
4	BRCA1	chr2:76495536-76496572	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr2:76497420-76497855	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr2:76438085-76438104	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr2:76439465-76439770	A549	lung:	n/a	chr2:76439634-76439645
8	CEBPB	chr2:76483646-76484274	MCF-7	breast:	n/a	n/a
9	CEBPB	chr2:76439462-76439814	HepG2	liver:	n/a	chr2:76439634-76439645
10	CEBPB	chr2:76495893-76496561	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr2:76459151-76459344	HepG2	liver:	n/a	chr2:76459199-76459210
12	CEBPB	chr2:76439465-76439799	K562	blood:	n/a	chr2:76439634-76439645
13	CEBPB	chr2:76486048-76486252	HepG2	liver:	n/a	chr2:76486149-76486166
14	CEBPB	chr2:76497338-76498017	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr2:76439457-76439795	IMR90	lung:	n/a	chr2:76439634-76439645
16	CEBPB	chr2:76483654-76484283	MCF-7	breast:	n/a	n/a
17	CHD2	chr2:76482640-76482745	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr2:76497369-76497925	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr2:76495708-76496376	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr2:76492139-76492185	HepG2	liver:	n/a	n/a
21	CHD2	chr2:76488375-76488432	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr2:76435288-76435337	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr2:76488001-76488078	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr2:76478576-76478679	K562	blood:	n/a	n/a
25	CTCF	chr2:76478483-76478779	GM12878	blood:	n/a	n/a
26	CTCF	chr2:76478577-76478578	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr2:76497707-76497797	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr2:76478520-76478670	GM12872	blood:	n/a	n/a
29	CTCF	chr2:76487980-76488130	SAEC	small airway:	n/a	n/a
30	CTCF	chr2:76478592-76478713	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:76478540-76478690	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr2:76478580-76478725	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr2:76478500-76478650	GM12873	blood:	n/a	n/a
34	CTCF	chr2:76488011-76488067	LNCaP	prostate:	n/a	n/a
35	CTCF	chr2:76498921-76498976	GM20000	blood:	n/a	n/a
36	CTCF	chr2:76487960-76488110	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:76478600-76478750	GM12872	blood:	n/a	n/a
38	CTCF	chr2:76485075-76485105	GM20000	blood:	n/a	n/a
39	CTCF	chr2:76487940-76488090	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:76487957-76488115	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:76478520-76478670	RPTEC	kidney:	n/a	n/a
42	CTCF	chr2:76478360-76478510	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:76479880-76480030	WI-38	lung:	n/a	n/a
44	CTCF	chr2:76487840-76487990	HepG2	liver:	n/a	n/a
45	CTCF	chr2:76485907-76486000	GM20000	blood:	n/a	n/a
46	CTCF	chr2:76483080-76483230	AG04449	skin:	n/a	n/a
47	CTCF	chr2:76483066-76483133	GM20000	blood:	n/a	n/a
48	CTCF	chr2:76487939-76488117	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:76487980-76488130	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr2:76487992-76488061	MCF-7	breast:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:76451909..76454817-chr2:76457101..76460248,3	K562	blood:
2	chr2:76491531..76493683-chr2:76495220..76497956,2	K562	blood:
3	chr2:76466400..76468963-chr2:76475593..76477464,2	K562	blood:
4	chr2:76414788..76418633-chr2:76429689..76432839,3	K562	blood:
5	chr2:76476209..76478643-chr2:76482713..76485500,2	MCF-7	breast:
6	chr2:76458156..76460040-chr2:76465460..76467241,2	K562	blood:
7	chr2:76499226..76501704-chr2:76502489..76504839,2	MCF-7	breast:
8	chr2:76458156..76460040-chr2:76465460..76467241,2	K562	blood:
9	chr2:76493136..76496229-chr2:76496257..76499157,3	MCF-7	breast:
10	chr2:76466400..76468963-chr2:76475593..76477464,2	K562	blood:
11	chr14:39644932..39647081-chr2:76482059..76483713,2	MCF-7	breast:
12	chr2:76414788..76417056-chr2:76429689..76431899,2	K562	blood:
13	chr2:76476209..76478643-chr2:76482713..76485500,2	MCF-7	breast:
14	chr2:76451909..76454817-chr2:76457101..76460248,3	K562	blood:
15	chr2:76493136..76496229-chr2:76496257..76499157,3	MCF-7	breast:
16	chr2:76491531..76493683-chr2:76495220..76497956,2	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: 1273 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1273 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1916870	chr2:76430941-76430942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377137227	chr2:76430988-76430989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148219221	chr2:76430996-76430997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141178127	chr2:76431022-76431023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372973900	chr2:76431027-76431028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566814635	chr2:76431033-76431034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150748080	chr2:76431042-76431043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139058751	chr2:76431068-76431069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144001030	chr2:76431090-76431091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146024373	chr2:76431103-76431104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192644197	chr2:76431117-76431118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573451998	chr2:76431158-76431159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533939510	chr2:76431191-76431192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558953682	chr2:76431198-76431199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17702641	chr2:76431277-76431278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs183790401	chr2:76431291-76431292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114736011	chr2:76431338-76431339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551071325	chr2:76431358-76431359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560142362	chr2:76431361-76431362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527375427	chr2:76431382-76431383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549062130	chr2:76431384-76431385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188504691	chr2:76431451-76431452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529482722	chr2:76431491-76431492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551171606	chr2:76431528-76431529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569427485	chr2:76431544-76431545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191710383	chr2:76431554-76431555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532252658	chr2:76431608-76431609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541175821	chr2:76431684-76431685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557856806	chr2:76431753-76431754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549884880	chr2:76431790-76431791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566488034	chr2:76431802-76431803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533932282	chr2:76431804-76431805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11349277	chr2:76431950-76431951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397731764	chr2:76431958-76431959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555411405	chr2:76431978-76431979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79028106	chr2:76432032-76432033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76506954	chr2:76432045-76432046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556353658	chr2:76432079-76432080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139991280	chr2:76432082-76432083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149717445	chr2:76432101-76432102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145590829	chr2:76432147-76432148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184171772	chr2:76432180-76432181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542667546	chr2:76432188-76432189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35382012	chr2:76432192-76432193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148878035	chr2:76432211-76432212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141222041	chr2:76432294-76432295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200082786	chr2:76432295-76432296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542666741	chr2:76432300-76432301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559064832	chr2:76432304-76432305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550889736	chr2:76432319-76432320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76425000-76437000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:76429800-76431000	Enhancers	HepG2	liver
3	chr2:76431000-76433200	Weak transcription	HepG2	liver
4	chr2:76433200-76434000	Enhancers	HepG2	liver
5	chr2:76435400-76436800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:76436800-76437000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:76436800-76438800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:76437000-76437200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:76437000-76438000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:76437400-76438000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:76437600-76437800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:76437800-76438600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:76438000-76438400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:76438000-76439000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:76438000-76440000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:76438400-76438800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:76438600-76439600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:76438800-76439000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:76438800-76439400	Enhancers	Brain Germinal Matrix	brain
20	chr2:76438800-76439800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:76438800-76440000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:76438800-76440000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:76439000-76439200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:76439000-76439400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:76439000-76439400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:76439000-76440000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:76439000-76440000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:76439200-76439600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:76439200-76439600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:76439200-76440000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:76439400-76439600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:76439600-76440000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:76439800-76440200	Enhancers	GM12878-XiMat	blood
34	chr2:76474000-76474400	Enhancers	Gastric	stomach
35	chr2:76474200-76474400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:76474200-76474600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:76476600-76476800	Weak transcription	Pancreas	Pancrea
38	chr2:76476600-76484800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:76476800-76477000	Enhancers	Pancreas	Pancrea
40	chr2:76477000-76480800	Weak transcription	Pancreas	Pancrea
41	chr2:76477400-76478000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:76478000-76483600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:76480400-76480800	Enhancers	Fetal Lung	lung
44	chr2:76483600-76484400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:76483600-76484400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:76483600-76486200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:76483800-76484200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:76483800-76484200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:76483800-76484200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:76483800-76484400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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