Variant report

Variant	nsv981542
Chromosome Location	chr7:84607153-84614079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:84611000-84611150	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr7:84611160-84611310	BE2_C	brain:	n/a	n/a
3	EP300	chr7:84610255-84611068	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr7:84611320-84612081	SK-N-SH	brain:	n/a	n/a
5	EP300	chr7:84611248-84612090	SK-N-SH	brain:	n/a	n/a
6	FOS	chr7:84610483-84610604	MCF10A-Er-Src	breast:	n/a	n/a
7	FOSL2	chr7:84611581-84611845	SK-N-SH	brain:	n/a	n/a
8	FOSL2	chr7:84611416-84612042	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr7:84610658-84612163	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr7:84611632-84611832	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr7:84610710-84612153	SK-N-SH	brain:	n/a	n/a
12	HEY1	chr7:84613004-84613129	HepG2	liver:	n/a	n/a
13	HEY1	chr7:84612700-84612879	HepG2	liver:	n/a	n/a
14	HEY1	chr7:84612744-84612986	K562	blood:	n/a	n/a
15	HEY1	chr7:84612732-84613191	K562	blood:	n/a	n/a
16	HEY1	chr7:84612654-84613068	HepG2	liver:	n/a	n/a
17	JUND	chr7:84611337-84611890	SK-N-SH	brain:	n/a	n/a
18	JUND	chr7:84611367-84612030	SK-N-SH	brain:	n/a	n/a
19	NFIC	chr7:84611509-84611938	SK-N-SH	brain:	n/a	n/a
20	NFIC	chr7:84610402-84611082	ECC-1	luminal epithelium:	n/a	n/a
21	NFIC	chr7:84610696-84612086	SK-N-SH	brain:	n/a	n/a
22	NFIC	chr7:84610413-84610989	ECC-1	luminal epithelium:	n/a	n/a
23	PBX3	chr7:84611551-84611902	SK-N-SH	brain:	n/a	n/a
24	PBX3	chr7:84612754-84612881	GM12878	blood:	n/a	n/a
25	PBX3	chr7:84611381-84611891	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr7:84612758-84613084	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:84613000-84613139	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr7:84612720-84613072	GM12891	blood:	n/a	n/a
29	POLR2A	chr7:84610509-84610520	Gliobla	brain:	n/a	n/a
30	POLR2A	chr7:84612738-84612915	GM12891	blood:	n/a	n/a
31	POLR2A	chr7:84612544-84613067	GM12891	blood:	n/a	n/a
32	POLR2A	chr7:84612994-84613118	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:84612742-84612967	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:84612986-84613149	GM12878	blood:	n/a	n/a
35	POLR2A	chr7:84611039-84611188	ProgFib	skin:	n/a	n/a
36	POLR2A	chr7:84613030-84613105	A549	lung:	n/a	n/a
37	POLR2A	chr7:84612769-84612915	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:84612632-84613128	GM12892	blood:	n/a	n/a
39	POLR2A	chr7:84612753-84612956	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr7:84612646-84613065	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr7:84612708-84613117	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:84612785-84612872	A549	lung:	n/a	n/a
43	POLR2A	chr7:84610370-84610426	Gliobla	brain:	n/a	n/a
44	POLR2A	chr7:84608322-84608428	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr7:84612778-84612868	HepG2	liver:	n/a	n/a
46	POLR2A	chr7:84612771-84612875	A549	lung:	n/a	n/a
47	POLR2A	chr7:84612736-84612965	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr7:84613010-84613130	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr7:84611512-84611866	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr7:84612994-84613136	GM12891	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:84605392..84607669-chr7:84610508..84612046,2	K562	blood:
2	chr7:84609474..84613107-chr7:84613651..84618012,3	K562	blood:
3	chr7:84602502..84604355-chr7:84607200..84609135,2	K562	blood:
4	chr7:84605392..84607669-chr7:84610508..84612046,2	K562	blood:

No data

Variant related genes	Relation type
HNRNPA1P8	TF binding region
ENSG00000229251	chromatin interactions

Extended variants
information (count: 276 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35790570	chr7:84607167-84607168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79624090	chr7:84607174-84607175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397890657	chr7:84607175-84607176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183524957	chr7:84607211-84607212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187492345	chr7:84607214-84607215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192343207	chr7:84607215-84607216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139309653	chr7:84607225-84607226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544321661	chr7:84607241-84607242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183447150	chr7:84607250-84607251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144149155	chr7:84607279-84607280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533318070	chr7:84607294-84607295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541591190	chr7:84607297-84607298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62472110	chr7:84607325-84607326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374527316	chr7:84607329-84607330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532236287	chr7:84607335-84607336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10268216	chr7:84607354-84607355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370315071	chr7:84607377-84607378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537778692	chr7:84607405-84607406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146529966	chr7:84607415-84607416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567893814	chr7:84607431-84607432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188113359	chr7:84607433-84607434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553786737	chr7:84607436-84607437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572046629	chr7:84607467-84607468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192741124	chr7:84607469-84607470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76606462	chr7:84607539-84607540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575914726	chr7:84607542-84607543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373714697	chr7:84607549-84607550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34931062	chr7:84607555-84607556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10271823	chr7:84607661-84607662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139805346	chr7:84607666-84607667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529175697	chr7:84607693-84607694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540872298	chr7:84607705-84607706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559773274	chr7:84607810-84607811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533483016	chr7:84607858-84607859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376887351	chr7:84607886-84607887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184356936	chr7:84607905-84607906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111556403	chr7:84607912-84607913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548963574	chr7:84607929-84607930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188275290	chr7:84607943-84607944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549689407	chr7:84607972-84607973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567870714	chr7:84608064-84608065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192450247	chr7:84608110-84608111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546900095	chr7:84608181-84608182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565403383	chr7:84608200-84608201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72510308	chr7:84608202-84608203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12154971	chr7:84608329-84608330	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575674417	chr7:84608332-84608333	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs571345805	chr7:84608385-84608386	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs555589423	chr7:84608466-84608467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140153990	chr7:84608474-84608475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84605400-84607800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:84605600-84614600	Weak transcription	NHDF-Ad	bronchial
3	chr7:84607800-84608000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:84608000-84608400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:84608400-84608600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:84608600-84611000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:84610200-84610800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:84610200-84610800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:84610200-84611200	Enhancers	Fetal Stomach	stomach
10	chr7:84610400-84610800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:84610400-84610800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:84610400-84611200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:84610400-84611200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:84610600-84610800	Enhancers	NHEK	skin
15	chr7:84610600-84611000	Enhancers	Hela-S3	cervix
16	chr7:84610800-84614400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:84611000-84611200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:84613800-84616400	Weak transcription	Right Atrium	heart

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