Variant report

Variant	nsv967461
Chromosome Location	chr7:86334943-86338154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr7:86338052-86338057	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr7:86337700-86338031	H1-hESC	embryonic stem cell:	n/a	n/a
3	GATA3	chr7:86334922-86335071	SH-SY5Y	brain:	n/a	chr7:86334952-86334962
4	NANOG	chr7:86337712-86337930	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr7:86337760-86337981	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr7:86337700-86337997	H1-hESC	embryonic stem cell:	n/a	chr7:86337874-86337881
7	TCF12	chr7:86337659-86338003	H1-hESC	embryonic stem cell:	n/a	chr7:86337874-86337881

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:86337918-86337968	H1-hESC	embryonic stem cell:	embryo
2	chr7:86337918-86337968	H1-hESC	embryonic stem cell:	embryo
3	chr7:86337918-86337968	HCT-116	colon:	n/a
4	chr7:86337918-86337968	SAEC	small airway:	n/a
5	chr7:86337918-86337968	AG09309	skin:	n/a
6	chr7:86337918-86337968	ECC-1	luminal epithelium:	n/a
7	chr7:86337918-86337968	T-47D	breast:	n/a
8	chr7:86337918-86337968	AoSMC	blood vessel:	n/a
9	chr7:86337918-86337968	HNPCEpiC	eye:	n/a
10	chr7:86337918-86337968	HUVEC	blood vessel:	n/a
11	chr7:86337918-86337968	Caco-2	colon:	n/a
12	chr7:86337918-86337968	HAEpiC	amniotic membrane:	n/a
13	chr7:86337918-86337968	PFSK-1	brain:	n/a
14	chr7:86337918-86337968	MCF10A-Er-Src	breast:	n/a
15	chr7:86337918-86337968	AG04450	lung:	fetal
16	chr7:86337918-86337968	SK-N-SH	brain:	n/a
17	chr7:86337918-86337968	HRPEpiC	eye:	n/a
18	chr7:86337918-86337968	GM12892	blood:	n/a
19	chr7:86337918-86337968	GM19239	blood:	n/a
20	chr7:86337918-86337968	HCPEpiC	choroid plexus:	n/a
21	chr7:86337918-86337968	SK-N-SH_RA	brain:	n/a
22	chr7:86337918-86337968	SKMC	muscle:	n/a
23	chr7:86337918-86337968	HepG2	liver:	n/a
24	chr7:86337918-86337968	NT2-D1	testis:	n/a
25	chr7:86337918-86337968	CMK	blood:	n/a
26	chr7:86337918-86337968	HRE	kidney:	n/a
27	chr7:86337918-86337968	HRCEpiC	kidney:	n/a
28	chr7:86337918-86337968	MCF-7	breast:	n/a
29	chr7:86337918-86337968	IMR90	lung:	fetal
30	chr7:86337918-86337968	HEK293	kidney:	embryo
31	chr7:86337918-86337968	ovcar-3	ovarian:	n/a
32	chr7:86337918-86337968	NHBE	bronchial:	n/a
33	chr7:86337918-86337968	RPTEC	kidney:	n/a
34	chr7:86337918-86337968	HL-60	blood:	n/a
35	chr7:86337918-86337968	AG04449	skin:	fetal
36	chr7:86337918-86337968	LNCaP	prostate:	n/a
37	chr7:86337918-86337968	AG10803	skin:	n/a
38	chr7:86337918-86337968	PANC-1	pancreas:	n/a
39	chr7:86337918-86337968	GM12891	blood:	n/a
40	chr7:86337918-86337968	U87	brain:	n/a
41	chr7:86337918-86337968	PrEC	prostate:	n/a
42	chr7:86337918-86337968	SK-N-MC	brain:	n/a
43	chr7:86337918-86337968	BJ	skin:	n/a
44	chr7:86337918-86337968	NB4	blood:	n/a
45	chr7:86337918-86337968	AG09319	gingival:	n/a
46	chr7:86337918-86337968	NH-A	brain:	n/a
47	chr7:86337918-86337968	HCF	heart:	n/a
48	chr7:86337918-86337968	Hepatocyte	liver:	n/a
49	chr7:86337918-86337968	ProgFib	skin:	n/a
50	chr7:86337918-86337968	A549	lung:	n/a

No data

Variant related genes	Relation type
GRM3	TF binding region
GRM3	CpG island

Extended variants
information (count: 126 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568016412	chr7:86334958-86334959	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs76122497	chr7:86335005-86335006	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs802470	chr7:86335034-86335035	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572803187	chr7:86335093-86335094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79574017	chr7:86335126-86335127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547029944	chr7:86335169-86335170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376651528	chr7:86335207-86335208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367801734	chr7:86335209-86335210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73211647	chr7:86335225-86335226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115302775	chr7:86335250-86335251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386715474	chr7:86335279-86335280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138160907	chr7:86335282-86335283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386410656	chr7:86335284-86335285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78783897	chr7:86335312-86335313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372757556	chr7:86335318-86335319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71117517	chr7:86335319-86335320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529221826	chr7:86335339-86335340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139060533	chr7:86335356-86335357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560000314	chr7:86335413-86335414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35836966	chr7:86335431-86335432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569808193	chr7:86335447-86335448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544965866	chr7:86335483-86335484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560119103	chr7:86335492-86335493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs802471	chr7:86335505-86335506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181644167	chr7:86335542-86335543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539114704	chr7:86335561-86335562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570506415	chr7:86335577-86335578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17607448	chr7:86335589-86335590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186701192	chr7:86335635-86335636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs802472	chr7:86335722-86335723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77078689	chr7:86335723-86335724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535417510	chr7:86335742-86335743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553835993	chr7:86335787-86335788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116845489	chr7:86335800-86335801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2299218	chr7:86335812-86335813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558440140	chr7:86335859-86335860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576527368	chr7:86335864-86335865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543631835	chr7:86335879-86335880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555419865	chr7:86335913-86335914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189637419	chr7:86335914-86335915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1527765	chr7:86335951-86335952	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558444994	chr7:86335953-86335954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181165844	chr7:86335980-86335981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185315363	chr7:86335985-86335986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144056943	chr7:86335993-86335994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564418418	chr7:86336066-86336067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531374993	chr7:86336080-86336081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376822171	chr7:86336091-86336092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550026632	chr7:86336160-86336161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115482792	chr7:86336171-86336172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86331200-86337400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:86331800-86335600	Weak transcription	Brain Substantia Nigra	brain
3	chr7:86331800-86336600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:86331800-86337600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:86332800-86338000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:86334000-86338600	Enhancers	Brain Anterior Caudate	brain
7	chr7:86334000-86342400	Enhancers	Brain Angular Gyrus	brain
8	chr7:86334400-86337400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:86334600-86335000	Enhancers	Fetal Brain Male	brain
10	chr7:86334800-86335000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:86334800-86335000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:86334800-86335200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:86334800-86335200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:86334800-86337600	Enhancers	Brain Hippocampus Middle	brain
15	chr7:86335000-86335400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:86335000-86335400	Weak transcription	Fetal Brain Male	brain
17	chr7:86335000-86335600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:86335200-86338000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:86335200-86339000	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:86335400-86336200	Enhancers	Fetal Brain Male	brain
21	chr7:86335400-86337400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr7:86335600-86336000	Enhancers	Fetal Brain Female	brain
23	chr7:86335600-86337400	Enhancers	Brain Substantia Nigra	brain
24	chr7:86335600-86339000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:86335800-86339000	Enhancers	Brain Germinal Matrix	brain
26	chr7:86336000-86336800	Weak transcription	Fetal Brain Female	brain
27	chr7:86336200-86336800	Weak transcription	Fetal Brain Male	brain
28	chr7:86336600-86338200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:86336800-86337000	Enhancers	Fetal Brain Female	brain
30	chr7:86336800-86338400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:86336800-86338600	Enhancers	Fetal Brain Male	brain
32	chr7:86337000-86337800	Weak transcription	Fetal Brain Female	brain
33	chr7:86337200-86339000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:86337400-86337800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:86337400-86337800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:86337400-86337800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr7:86337400-86337800	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr7:86337400-86338200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr7:86337400-86338800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:86337400-86338800	Enhancers	Fetal Heart	heart
41	chr7:86337400-86339000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr7:86337600-86338000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:86337600-86338000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr7:86337600-86338000	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr7:86337600-86338000	Enhancers	Fetal Muscle Leg	muscle
46	chr7:86337800-86338000	Enhancers	Fetal Brain Female	brain
47	chr7:86337800-86339400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr7:86337800-86339600	Enhancers	Brain Substantia Nigra	brain
49	chr7:86338000-86339400	Enhancers	Brain Hippocampus Middle	brain

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