Variant report

Variant	nsv961732
Chromosome Location	chr2:151459987-151466342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:151464101-151464425	IMR90	lung:	n/a	n/a
2	CEBPB	chr2:151462289-151462529	A549	lung:	n/a	n/a
3	CEBPB	chr2:151462235-151462516	MCF-7	breast:	n/a	n/a
4	CEBPB	chr2:151462199-151462567	A549	lung:	n/a	n/a
5	CEBPB	chr2:151464195-151464361	A549	lung:	n/a	n/a
6	CTCF	chr2:151466342-151467958	A549	lung:	n/a	chr2:151467393-151467406 chr2:151467391-151467409 chr2:151467392-151467408
7	EP300	chr2:151466318-151466698	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr2:151466120-151466998	SK-N-SH	brain:	n/a	n/a
9	EP300	chr2:151466129-151466987	SK-N-SH	brain:	n/a	n/a
10	FOS	chr2:151462253-151462555	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr2:151462385-151462511	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr2:151462271-151462531	MCF10A-Er-Src	breast:	n/a	n/a
13	FOSL2	chr2:151466243-151466765	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr2:151466159-151467016	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr2:151466223-151466941	SK-N-SH	brain:	n/a	n/a
16	JUND	chr2:151466280-151466920	SK-N-SH	brain:	n/a	n/a
17	MAX	chr2:151466237-151466751	SK-N-SH	brain:	n/a	n/a
18	MAX	chr2:151466325-151466728	SK-N-SH	brain:	n/a	n/a
19	MXI1	chr2:151466194-151467708	IMR90	lung:	n/a	n/a
20	MXI1	chr2:151461516-151461597	K562	blood:	n/a	n/a
21	MYC	chr2:151462304-151462386	GM12878	blood:	n/a	n/a
22	NFIC	chr2:151466186-151466985	SK-N-SH	brain:	n/a	n/a
23	PBX3	chr2:151466317-151466846	SK-N-SH	brain:	n/a	n/a
24	PBX3	chr2:151466160-151466962	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr2:151466319-151466722	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr2:151460908-151461051	ProgFib	skin:	n/a	n/a
27	POLR2A	chr2:151466296-151466796	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr2:151463762-151464136	H1-neurons	neurons:	n/a	n/a
29	SMC3	chr2:151466185-151467763	SK-N-SH	brain:	n/a	n/a
30	TCF12	chr2:151466243-151466921	A549	lung:	n/a	n/a
31	TCF12	chr2:151466194-151466986	SK-N-SH	brain:	n/a	n/a
32	TCF12	chr2:151466111-151467677	SK-N-SH	brain:	n/a	n/a
33	TEAD4	chr2:151466264-151466958	SK-N-SH	brain:	n/a	n/a
34	TEAD4	chr2:151466163-151466995	SK-N-SH	brain:	n/a	n/a
35	WRNIP1	chr2:151465007-151465204	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:151340436..151342820-chr2:151458354..151460937,2	MCF-7	breast:
2	chr2:151342696..151344823-chr2:151461829..151464525,2	MCF-7	breast:
3	chr2:151340761..151344289-chr2:151463016..151468103,7	MCF-7	breast:
4	chr2:151376610..151379421-chr2:151457834..151460059,2	MCF-7	breast:
5	chr2:151466148..151468883-chr2:151471106..151473302,2	MCF-7	breast:
6	chr2:150453295..150455757-chr2:151465590..151467443,2	MCF-7	breast:
7	chr2:151338744..151345527-chr2:151464975..151472294,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224048	TF binding region
ENSG00000115963	chromatin interactions

Extended variants
information (count: 234 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571336611	chr2:151460001-151460002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs536608962	chr2:151460002-151460003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369144073	chr2:151460081-151460082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs79479682	chr2:151460093-151460094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189659321	chr2:151460185-151460186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553120440	chr2:151460200-151460201	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572983838	chr2:151460297-151460298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536490923	chr2:151460313-151460314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545201436	chr2:151460331-151460332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558739701	chr2:151460334-151460335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs373422434	chr2:151460418-151460419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544612055	chr2:151460443-151460444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62169720	chr2:151460462-151460463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530402130	chr2:151460470-151460471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540597856	chr2:151460641-151460642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560706546	chr2:151460669-151460670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560861291	chr2:151460728-151460729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371626022	chr2:151460735-151460736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532564600	chr2:151460742-151460743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574184347	chr2:151460786-151460787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552749055	chr2:151460803-151460804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565964655	chr2:151460836-151460837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111773248	chr2:151460841-151460842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530566313	chr2:151460868-151460869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187754213	chr2:151460894-151460895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs137933315	chr2:151460898-151460899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142497934	chr2:151460932-151460933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536121640	chr2:151460941-151460942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552966332	chr2:151460952-151460953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566968727	chr2:151460967-151460968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73969510	chr2:151460995-151460996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538407297	chr2:151460997-151460998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558759790	chr2:151461026-151461027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145934726	chr2:151461073-151461074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148201779	chr2:151461095-151461096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377530001	chr2:151461099-151461100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141561638	chr2:151461107-151461108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192284454	chr2:151461114-151461115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540636154	chr2:151461117-151461118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183570725	chr2:151461177-151461178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560584621	chr2:151461192-151461193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532845174	chr2:151461228-151461229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546077275	chr2:151461229-151461230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559105192	chr2:151461274-151461275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562783558	chr2:151461317-151461318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530509327	chr2:151461326-151461327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188154417	chr2:151461384-151461385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150909801	chr2:151461385-151461386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7571312	chr2:151461398-151461399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs114991104	chr2:151461426-151461427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151458200-151463000	Weak transcription	HSMMtube	muscle
2	chr2:151458200-151469400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:151458400-151463200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:151458600-151463000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:151458600-151463000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:151458600-151463000	Weak transcription	Osteobl	bone
7	chr2:151458600-151463400	Weak transcription	NHLF	lung
8	chr2:151458600-151467000	Weak transcription	NHEK	skin
9	chr2:151458600-151469400	Weak transcription	Aorta	Aorta
10	chr2:151458800-151464200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:151462200-151465400	Enhancers	Dnd41	blood
12	chr2:151462800-151464800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:151462800-151464800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:151462800-151466600	Enhancers	NHDF-Ad	bronchial
15	chr2:151462800-151471000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:151463000-151463400	Enhancers	Fetal Heart	heart
17	chr2:151463000-151464200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:151463000-151464200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:151463000-151464400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:151463000-151464600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:151463000-151464600	Enhancers	HSMM	muscle
22	chr2:151463000-151464600	Enhancers	Osteobl	bone
23	chr2:151463000-151467400	Enhancers	HSMMtube	muscle
24	chr2:151463000-151467600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:151463000-151467600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:151463200-151463600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:151463200-151464600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:151463200-151466200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:151463400-151467600	Enhancers	NHLF	lung
30	chr2:151463600-151464200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:151463600-151465000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:151463800-151464200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr2:151463800-151464200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:151463800-151464200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:151463800-151464200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:151463800-151464200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr2:151463800-151464400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:151464000-151464200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:151464000-151464400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr2:151464200-151464600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:151464200-151465800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:151464200-151466200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:151464200-151466200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:151464200-151467000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:151464200-151467000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:151464400-151476200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:151464600-151466000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:151464600-151466000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:151464600-151466000	Weak transcription	Osteobl	bone
50	chr2:151464600-151466200	Weak transcription	HSMM	muscle

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