Variant report

Variant	nsv981541
Chromosome Location	chr7:84157301-84158301
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	EP300	chr7:84158147-84159576	A549	lung:	n/a	chr7:84158392-84158406 chr7:84158703-84158717 chr7:84159530-84159538
2	FOSL2	chr7:84158290-84159506	A549	lung:	n/a	n/a
3	GATA3	chr7:84158208-84159538	MCF-7	breast:	n/a	chr7:84158618-84158628 chr7:84158937-84158945
4	JUN	chr7:84157465-84157805	HepG2	liver:	n/a	chr7:84157619-84157632
5	JUND	chr7:84157466-84157778	HepG2	liver:	n/a	n/a
6	MAFF	chr7:84158116-84158409	HepG2	liver:	n/a	n/a
7	MAFK	chr7:84158100-84158462	IMR90	lung:	n/a	n/a
8	MAFK	chr7:84158111-84158457	HepG2	liver:	n/a	n/a
9	MAFK	chr7:84158113-84159442	Hela-S3	cervix:	n/a	chr7:84159075-84159091
10	MAFK	chr7:84158121-84158438	HepG2	liver:	n/a	n/a
11	RFX5	chr7:84158249-84159229	Hela-S3	cervix:	n/a	n/a
12	STAT3	chr7:84157995-84158014	MCF10A-Er-Src	breast:	n/a	n/a
13	TCF12	chr7:84158230-84159567	A549	lung:	n/a	chr7:84158535-84158542

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA3A-1	chr7:84157438-84158146	NONHSAT121788

Variant related genes	Relation type
ENSG00000235139	TF binding region
RPL7P30	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373125421	chr7:84157301-84157302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575315552	chr7:84157391-84157392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570497337	chr7:84157452-84157453	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs560981427	chr7:84157473-84157474	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs372731885	chr7:84157487-84157488	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs532803705	chr7:84157494-84157495	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs566199622	chr7:84157564-84157565	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs144771593	chr7:84157583-84157584	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs546532785	chr7:84157617-84157618	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs138671965	chr7:84157647-84157648	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs193091669	chr7:84157711-84157712	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs566376968	chr7:84157725-84157726	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs112172436	chr7:84157735-84157736	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs530055360	chr7:84157738-84157739	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs551492566	chr7:84157779-84157780	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs184199667	chr7:84157814-84157815	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs150802103	chr7:84157823-84157824	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs188800955	chr7:84157881-84157882	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs552538679	chr7:84157918-84157919	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs571036247	chr7:84157925-84157926	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs538008049	chr7:84157977-84157978	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs191979964	chr7:84158045-84158046	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs372520896	chr7:84158066-84158067	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs78025912	chr7:84158070-84158071	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs536286874	chr7:84158098-84158099	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs554581855	chr7:84158178-84158179	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs2715048	chr7:84158180-84158181	Enhancers Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142907540	chr7:84158213-84158214	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs184626715	chr7:84158243-84158244	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs137874798	chr7:84158245-84158246	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84153200-84158800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:84154800-84158200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:84155000-84158400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:84155000-84158400	Weak transcription	HSMM	muscle
5	chr7:84155000-84158400	Weak transcription	HUVEC	blood vessel
6	chr7:84155000-84158400	Weak transcription	NHLF	lung
7	chr7:84155000-84158400	Weak transcription	Osteobl	bone
8	chr7:84155000-84158600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:84155000-84158600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:84155000-84158800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:84155000-84158800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:84155200-84158200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:84155200-84158400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:84155400-84158000	Weak transcription	NHDF-Ad	bronchial
15	chr7:84156200-84157800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:84156600-84158200	Enhancers	A549	lung
17	chr7:84157000-84157400	Weak transcription	Hela-S3	cervix
18	chr7:84157000-84158000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:84157400-84160800	Enhancers	Hela-S3	cervix
20	chr7:84157600-84158600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:84157600-84159600	Enhancers	Fetal Intestine Large	intestine
22	chr7:84157600-84162400	Enhancers	Fetal Intestine Small	intestine
23	chr7:84157800-84158400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:84158000-84158200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:84158000-84158600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:84158000-84159200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:84158000-84160000	Enhancers	NHEK	skin
28	chr7:84158000-84160800	Enhancers	NHDF-Ad	bronchial
29	chr7:84158200-84158600	Flanking Active TSS	A549	lung
30	chr7:84158200-84159400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:84158200-84159400	Enhancers	Colon Smooth Muscle	Colon
32	chr7:84158200-84159600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:84158200-84161000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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