Variant report

Variant	nsv517963
Chromosome Location	chr7:79874467-79887271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:79879199-79879522	IMR90	lung:	n/a	n/a
2	GATA3	chr7:79878787-79878857	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr7:79877540-79877542	SH-SY5Y	brain:	n/a	n/a
4	MAFF	chr7:79878594-79878801	K562	blood:	n/a	chr7:79878692-79878710
5	MAFF	chr7:79878577-79878882	HepG2	liver:	n/a	chr7:79878692-79878710
6	MAFK	chr7:79878526-79878877	HepG2	liver:	n/a	chr7:79878693-79878708
7	MAFK	chr7:79878577-79878811	Hela-S3	cervix:	n/a	chr7:79878693-79878708
8	MAFK	chr7:79878513-79878868	IMR90	lung:	n/a	chr7:79878693-79878708
9	MAFK	chr7:79878606-79878848	K562	blood:	n/a	chr7:79878693-79878708
10	MAFK	chr7:79878538-79878871	HepG2	liver:	n/a	chr7:79878693-79878708
11	MYC	chr7:79879157-79879350	NB4	blood:	n/a	n/a
12	PBX3	chr7:79887038-79887450	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr7:79876605-79876653	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr7:79884744-79884772	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr7:79885884-79885913	MCF10A-Er-Src	breast:	n/a	n/a
16	SPI1	chr7:79886505-79886836	HL-60	blood:	n/a	chr7:79886614-79886627 chr7:79886615-79886624
17	SPI1	chr7:79886521-79886650	K562	blood:	n/a	chr7:79886614-79886627 chr7:79886615-79886624
18	STAT3	chr7:79879946-79880146	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr7:79877916-79878090	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr7:79876825-79877020	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:79880295-79880345	GM12891	blood:	n/a
2	chr7:79881210-79881260	HepG2	liver:	n/a
3	chr7:79881210-79881260	Hela-S3	cervix:	n/a
4	chr7:79880295-79880345	ovcar-3	ovarian:	n/a
5	chr7:79880295-79880345	HRCEpiC	kidney:	n/a
6	chr7:79880295-79880345	SKMC	muscle:	n/a
7	chr7:79880295-79880345	NB4	blood:	n/a
8	chr7:79881210-79881260	NH-A	brain:	n/a
9	chr7:79880295-79880345	HIPEpiC	eye:	n/a
10	chr7:79881210-79881260	GM06990	blood:	n/a
11	chr7:79881210-79881260	Jurkat	blood:	n/a
12	chr7:79881210-79881260	MCF10A-Er-Src	breast:	n/a
13	chr7:79880295-79880345	HepG2	liver:	n/a
14	chr7:79880295-79880345	HCPEpiC	choroid plexus:	n/a
15	chr7:79881210-79881260	HEEpiC	esophagus:	n/a
16	chr7:79881210-79881260	PANC-1	pancreas:	n/a
17	chr7:79881210-79881260	HCT-116	colon:	n/a
18	chr7:79881210-79881260	HCM	heart:	n/a
19	chr7:79881210-79881260	NB4	blood:	n/a
20	chr7:79880295-79880345	HAEpiC	amniotic membrane:	n/a
21	chr7:79881210-79881260	MCF-7	breast:	n/a
22	chr7:79881210-79881260	HIPEpiC	eye:	n/a
23	chr7:79881210-79881260	RPTEC	kidney:	n/a
24	chr7:79880295-79880345	IMR90	lung:	fetal
25	chr7:79881210-79881260	AoSMC	blood vessel:	n/a
26	chr7:79880295-79880345	Caco-2	colon:	n/a
27	chr7:79880295-79880345	NHDF-neo	bronchial:	n/a
28	chr7:79880295-79880345	AG10803	skin:	n/a
29	chr7:79881210-79881260	HL-60	blood:	n/a
30	chr7:79881210-79881260	Hepatocyte	liver:	n/a
31	chr7:79880295-79880345	RPTEC	kidney:	n/a
32	chr7:79880295-79880345	HEK293	kidney:	embryo
33	chr7:79880295-79880345	HMEC	breast:	n/a
34	chr7:79880295-79880345	AG04449	skin:	fetal
35	chr7:79880295-79880345	NT2-D1	testis:	n/a
36	chr7:79881210-79881260	GM12878	blood:	n/a
37	chr7:79881210-79881260	AG10803	skin:	n/a
38	chr7:79880295-79880345	HRPEpiC	eye:	n/a
39	chr7:79880295-79880345	U87	brain:	n/a
40	chr7:79880295-79880345	GM12892	blood:	n/a
41	chr7:79881210-79881260	U87	brain:	n/a
42	chr7:79881210-79881260	T-47D	breast:	n/a
43	chr7:79880295-79880345	T-47D	breast:	n/a
44	chr7:79881210-79881260	ProgFib	skin:	n/a
45	chr7:79881210-79881260	K562	blood:	n/a
46	chr7:79881210-79881260	A549	lung:	n/a
47	chr7:79881210-79881260	NHBE	bronchial:	n/a
48	chr7:79881210-79881260	HRE	kidney:	n/a
49	chr7:79881210-79881260	HCPEpiC	choroid plexus:	n/a
50	chr7:79880295-79880345	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:79869137..79871047-chr7:79883328..79886056,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNAT3-2	chr7:79878048-79878182	XLOC_006508
2	lnc-GNAT3-2	chr7:79875725-79875818	XLOC_006508
3	lnc-GNAI1-3	chr7:79875242-79875538	NONHSAT121734

No data

Variant related genes	Relation type
RN7SL869P	TF binding region
RN7SL869P	CpG island

Extended variants
information (count: 442 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1858339	chr7:79874467-79874468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139141296	chr7:79874471-79874472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79690192	chr7:79874490-79874491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539841688	chr7:79874499-79874500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528007213	chr7:79874561-79874562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548057734	chr7:79874581-79874582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149943003	chr7:79874588-79874589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73708815	chr7:79874589-79874590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549870282	chr7:79874601-79874602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569780551	chr7:79874668-79874669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538668705	chr7:79874679-79874680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559747819	chr7:79874705-79874706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374145498	chr7:79874708-79874709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73380538	chr7:79874716-79874717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572389870	chr7:79874738-79874739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189169593	chr7:79874757-79874758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533883288	chr7:79874764-79874765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554033240	chr7:79874831-79874832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201479518	chr7:79874855-79874856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573886550	chr7:79874902-79874903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180854265	chr7:79875021-79875022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556312285	chr7:79875028-79875029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528942398	chr7:79875045-79875046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186278694	chr7:79875049-79875050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377670053	chr7:79875126-79875127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545068573	chr7:79875133-79875134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189140983	chr7:79875151-79875152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527273820	chr7:79875193-79875194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562602997	chr7:79875256-79875257	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs530965334	chr7:79875265-79875266	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs541362462	chr7:79875267-79875268	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs561204632	chr7:79875280-79875281	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs530245327	chr7:79875345-79875346	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs112327567	chr7:79875436-79875437	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs181544376	chr7:79875527-79875528	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs569893518	chr7:79875533-79875534	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs532532562	chr7:79875535-79875536	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs564567019	chr7:79875537-79875538	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs552632092	chr7:79875542-79875543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372386716	chr7:79875554-79875555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551194653	chr7:79875556-79875557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564034503	chr7:79875557-79875558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10526241	chr7:79875563-79875564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397760924	chr7:79875567-79875568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565987383	chr7:79875568-79875569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186273984	chr7:79875606-79875607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114452895	chr7:79875632-79875633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567535319	chr7:79875685-79875686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375117936	chr7:79875726-79875727	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs536474531	chr7:79875757-79875758	Weak transcription	lncRNA	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
Williams Syndrome	20824207	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
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79870600-79879200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:79872600-79874800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:79872600-79875400	Enhancers	Adipose Nuclei	Adipose
4	chr7:79872800-79874800	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr7:79873600-79874600	Enhancers	Brain Substantia Nigra	brain
6	chr7:79873600-79874800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:79873600-79874800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr7:79874000-79874600	Enhancers	Brain Anterior Caudate	brain
9	chr7:79874000-79874600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr7:79874000-79874800	Enhancers	Brain Angular Gyrus	brain
11	chr7:79874000-79874800	Enhancers	Fetal Muscle Leg	muscle
12	chr7:79874000-79875000	Enhancers	Fetal Stomach	stomach
13	chr7:79874000-79876400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:79874000-79878400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:79874200-79874600	Enhancers	Right Ventricle	heart
16	chr7:79874200-79874600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr7:79874200-79874800	Enhancers	Brain Cingulate Gyrus	brain
18	chr7:79874200-79874800	Enhancers	Left Ventricle	heart
19	chr7:79874200-79874800	Enhancers	Right Atrium	heart
20	chr7:79874400-79874800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:79874400-79874800	Enhancers	Brain Hippocampus Middle	brain
22	chr7:79874400-79876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:79874600-79879000	Weak transcription	Brain Substantia Nigra	brain
24	chr7:79874800-79876200	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:79874800-79878600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:79874800-79879000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:79874800-79879200	Weak transcription	Brain Angular Gyrus	brain
28	chr7:79874800-79879400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:79876200-79876800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:79876400-79876600	Enhancers	Fetal Muscle Leg	muscle
31	chr7:79876400-79877200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:79876800-79880200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:79877200-79878600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:79878200-79880000	Enhancers	Primary hematopoietic stem cells	blood
35	chr7:79878400-79880000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr7:79878600-79879600	Enhancers	Brain Cingulate Gyrus	brain
37	chr7:79878600-79880000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:79878600-79880200	Enhancers	Dnd41	blood
39	chr7:79878800-79879000	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr7:79879000-79879400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:79879000-79879800	Enhancers	Brain Hippocampus Middle	brain
42	chr7:79879000-79879800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr7:79879000-79879800	Enhancers	Brain Substantia Nigra	brain
44	chr7:79879200-79879400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:79879200-79879600	Enhancers	Brain Angular Gyrus	brain
46	chr7:79879400-79879800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:79879400-79882600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:79882600-79883000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:79883000-79883200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:79883000-79883600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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