Variant report

Variant	nsv961907
Chromosome Location	chr2:172442917-172448664
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:172444188-172444350	Hela-S3	cervix:	n/a	chr2:172444268-172444277 chr2:172444267-172444278 chr2:172444204-172444215 chr2:172444205-172444214 chr2:172444266-172444279 chr2:172444266-172444277
2	CEBPB	chr2:172444164-172444337	H1-hESC	embryonic stem cell:	n/a	chr2:172444268-172444277 chr2:172444267-172444278 chr2:172444204-172444215 chr2:172444205-172444214 chr2:172444266-172444279 chr2:172444266-172444277
3	CEBPB	chr2:172444117-172444409	A549	lung:	n/a	chr2:172444268-172444277 chr2:172444267-172444278 chr2:172444204-172444215 chr2:172444205-172444214 chr2:172444266-172444279 chr2:172444266-172444277
4	CEBPB	chr2:172444141-172444390	K562	blood:	n/a	chr2:172444268-172444277 chr2:172444267-172444278 chr2:172444204-172444215 chr2:172444205-172444214 chr2:172444266-172444279 chr2:172444266-172444277
5	CEBPB	chr2:172444107-172444426	IMR90	lung:	n/a	chr2:172444268-172444277 chr2:172444267-172444278 chr2:172444204-172444215 chr2:172444205-172444214 chr2:172444266-172444279 chr2:172444266-172444277
6	CEBPB	chr2:172444122-172444418	HepG2	liver:	n/a	chr2:172444268-172444277 chr2:172444267-172444278 chr2:172444204-172444215 chr2:172444205-172444214 chr2:172444266-172444279 chr2:172444266-172444277
7	CEBPB	chr2:172444122-172444403	K562	blood:	n/a	chr2:172444268-172444277 chr2:172444267-172444278 chr2:172444204-172444215 chr2:172444205-172444214 chr2:172444266-172444279 chr2:172444266-172444277
8	FOS	chr2:172444191-172444365	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr2:172444152-172444326	MCF10A-Er-Src	breast:	n/a	n/a
10	FOXA1	chr2:172443724-172443899	T-47D	breast:	n/a	n/a
11	FOXA1	chr2:172443660-172443940	T-47D	breast:	n/a	n/a
12	KAP1	chr2:172446812-172447228	HEK293	kidney:	n/a	n/a
13	MYC	chr2:172444239-172444311	MCF10A-Er-Src	breast:	n/a	n/a
14	NFIC	chr2:172448647-172449157	SK-N-SH	brain:	n/a	chr2:172448865-172448881 chr2:172448864-172448881
15	STAT3	chr2:172444152-172444352	MCF10A-Er-Src	breast:	n/a	chr2:172444206-172444214 chr2:172444280-172444288
16	STAT3	chr2:172444195-172444312	MCF10A-Er-Src	breast:	n/a	chr2:172444206-172444214 chr2:172444280-172444288

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172441930..172443679-chr2:172445766..172448276,2	K562	blood:
2	chr2:172432492..172434881-chr2:172445947..172448436,2	K562	blood:

Variant related genes	Relation type
RPL21P38	TF binding region
ENSG00000233934	chromatin interactions

Extended variants
information (count: 241 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:241 , 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	rs372510653	chr2:172442942-172442943	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs147700392	chr2:172442963-172442964	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576738138	chr2:172442966-172442967	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs140987818	chr2:172442979-172442980	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556016226	chr2:172443012-172443013	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs566506776	chr2:172443043-172443044	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs574437633	chr2:172443062-172443063	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs114913545	chr2:172443101-172443102	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs559872237	chr2:172443118-172443119	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs115754229	chr2:172443153-172443154	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs527369580	chr2:172443193-172443194	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs182914735	chr2:172443213-172443214	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs73979406	chr2:172443263-172443264	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531712853	chr2:172443265-172443266	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs76489408	chr2:172443292-172443293	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs187876452	chr2:172443343-172443344	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562361964	chr2:172443353-172443354	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190257876	chr2:172443387-172443388	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs548114693	chr2:172443409-172443410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375882348	chr2:172443422-172443423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7596418	chr2:172443430-172443431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145544223	chr2:172443465-172443466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552233527	chr2:172443479-172443480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570481754	chr2:172443497-172443498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541443010	chr2:172443519-172443520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148903755	chr2:172443526-172443527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372969781	chr2:172443581-172443582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145531349	chr2:172443582-172443583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553669631	chr2:172443594-172443595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376198201	chr2:172443596-172443597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572192691	chr2:172443622-172443623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs137892271	chr2:172443667-172443668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182888764	chr2:172443825-172443826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576503064	chr2:172443869-172443870	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs187497239	chr2:172443892-172443893	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs562017202	chr2:172443931-172443932	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs58520674	chr2:172443949-172443950	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73979407	chr2:172443956-172443957	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559828730	chr2:172443974-172443975	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533548717	chr2:172443975-172443976	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs551734072	chr2:172444021-172444022	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs192346266	chr2:172444033-172444034	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs185478216	chr2:172444034-172444035	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs372676100	chr2:172444048-172444049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376891576	chr2:172444058-172444059	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs148233144	chr2:172444084-172444085	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs141200059	chr2:172444097-172444098	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs112102319	chr2:172444125-172444126	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs189203061	chr2:172444139-172444140	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs553630761	chr2:172444151-172444152	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172442200-172443400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:172442800-172443400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:172443400-172443800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:172443400-172443800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr2:172443400-172445600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:172443400-172448400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:172443800-172444000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:172443800-172444400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr2:172444000-172444600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:172444400-172444800	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr2:172444600-172448400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:172444800-172445000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr2:172445000-172445600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:172447000-172447200	ZNF genes & repeats	HSMMtube	muscle
15	chr2:172447200-172452000	Weak transcription	HSMMtube	muscle
16	chr2:172448200-172448400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:172448200-172448800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:172448200-172449000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:172448400-172448600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:172448400-172448600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:172448400-172448600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:172448400-172448800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:172448400-172448800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr2:172448400-172448800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:172448400-172449000	Active TSS	Osteobl	bone
26	chr2:172448400-172449200	Enhancers	Fetal Lung	lung
27	chr2:172448600-172448800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:172448600-172448800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:172448600-172448800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:172448600-172448800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:172448600-172448800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr2:172448600-172448800	Bivalent Enhancer	NHDF-Ad	bronchial
33	chr2:172448600-172448800	Flanking Bivalent TSS/Enh	NHLF	lung
34	chr2:172448600-172449000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:172448600-172449000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:172448600-172449000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:172448600-172449000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:172448600-172449000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:172448600-172449000	Active TSS	Adipose Nuclei	Adipose
40	chr2:172448600-172449000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:172448600-172449000	Active TSS	Right Atrium	heart
42	chr2:172448600-172449200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:172448600-172449200	Enhancers	Gastric	stomach

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