Variant report

Variant	nsv889133
Chromosome Location	chr7:124018435-124094443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:124087717..124091760-chr7:124402640..124406846,5	MCF-7	breast:
2	chr7:124045286..124047206-chr7:124048009..124050452,2	K562	blood:
3	chr7:124082317..124084837-chr7:124085340..124087989,2	K562	blood:
4	chr7:124018038..124020966-chr7:124025116..124027291,2	MCF-7	breast:
5	chr7:124086263..124087904-chr7:124128230..124129878,2	MCF-7	breast:
6	chr7:124086521..124089407-chr7:124092308..124093904,2	MCF-7	breast:
7	chr7:123938093..123940517-chr7:124074999..124077404,2	K562	blood:
8	chr7:124045286..124047206-chr7:124048009..124050452,2	K562	blood:
9	chr7:124018038..124020966-chr7:124025116..124027291,2	MCF-7	breast:
10	chr7:124082317..124084837-chr7:124085340..124087989,2	K562	blood:
11	chr7:124086521..124089407-chr7:124092308..124093904,2	MCF-7	breast:
12	chr7:124092848..124095792-chr7:124404442..124407196,2	MCF-7	breast:
13	chr7:124087958..124089614-chr7:124089857..124091859,2	MCF-7	breast:
14	chr7:124087958..124089614-chr7:124089857..124091859,2	MCF-7	breast:
15	chr7:124082576..124084673-chr7:124100575..124102753,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPAM1-3	chr7:124029526-124029610	NONHSAT123082
2	lnc-SPAM1-3	chr7:124031483-124035172	ENSG00000242593.1
3	lnc-SPAM1-3	chr7:124028468-124028581	ENSG00000242593.1
4	lnc-SPAM1-3	chr7:124032563-124032795	NONHSAT123082
5	lnc-SPAM1-3	chr7:124025652-124025703	ENSG00000242593.1
6	lnc-SPAM1-3	chr7:124028495-124028581	NONHSAT123082
7	lnc-SPAM1-3	chr7:124029526-124029610	ENSG00000242593.1
8	lnc-SPAM1-3	chr7:124029526-124029556	XLOC_006229
9	lnc-SPAM1-3	chr7:124027821-124028581	XLOC_006229

No data

Variant related genes	Relation type
ENSG00000170775	chromatin interactions

Extended variants
information (count: 1322 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1322 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2402711	chr7:124018435-124018436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186161509	chr7:124018478-124018479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566725102	chr7:124018539-124018540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190776884	chr7:124018618-124018619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367639143	chr7:124018652-124018653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567486194	chr7:124018657-124018658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550823462	chr7:124018709-124018710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538131637	chr7:124018710-124018711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183185870	chr7:124018773-124018774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111543041	chr7:124018794-124018795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574848916	chr7:124018819-124018820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78979270	chr7:124018847-124018848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554262825	chr7:124018897-124018898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576975925	chr7:124018909-124018910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546022259	chr7:124018955-124018956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188162722	chr7:124018964-124018965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531661802	chr7:124019014-124019015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541744219	chr7:124019025-124019026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78847989	chr7:124019037-124019038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192557552	chr7:124019054-124019055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547098043	chr7:124019065-124019066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569160040	chr7:124019172-124019173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369502762	chr7:124019182-124019183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182583848	chr7:124019213-124019214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10280238	chr7:124019243-124019244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552763368	chr7:124019253-124019254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569334479	chr7:124019261-124019262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187635095	chr7:124019274-124019275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75322792	chr7:124019285-124019286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76833354	chr7:124019286-124019287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10280257	chr7:124019291-124019292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568470472	chr7:124019292-124019293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567274311	chr7:124019324-124019325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534146047	chr7:124019355-124019356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558302240	chr7:124019412-124019413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531158631	chr7:124019435-124019436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554201508	chr7:124019497-124019498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577315411	chr7:124019502-124019503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76597729	chr7:124019524-124019525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556359644	chr7:124019530-124019531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532418353	chr7:124019532-124019533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200538353	chr7:124019533-124019534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376704166	chr7:124019551-124019552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576122547	chr7:124019552-124019553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541724124	chr7:124019553-124019554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10224465	chr7:124019556-124019557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs192558536	chr7:124019568-124019569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554805614	chr7:124019582-124019583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540672057	chr7:124019593-124019594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563901839	chr7:124019612-124019613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124015200-124020800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:124027400-124028000	Enhancers	Brain Hippocampus Middle	brain
3	chr7:124027600-124027800	Enhancers	Brain Substantia Nigra	brain
4	chr7:124027800-124030800	Weak transcription	Brain Substantia Nigra	brain
5	chr7:124028000-124030800	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:124030400-124033800	Weak transcription	Fetal Brain Male	brain
7	chr7:124030600-124031600	Enhancers	Brain Cingulate Gyrus	brain
8	chr7:124030800-124031800	Enhancers	Brain Substantia Nigra	brain
9	chr7:124030800-124032600	Enhancers	Brain Hippocampus Middle	brain
10	chr7:124031600-124032200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:124031800-124032600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr7:124032200-124032400	Enhancers	Brain Cingulate Gyrus	brain
13	chr7:124032600-124033600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:124033800-124034200	Enhancers	Fetal Brain Male	brain
15	chr7:124034000-124034200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr7:124040200-124040600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:124042800-124044000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr7:124050000-124050400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:124050400-124050600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:124050600-124051000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:124050800-124054000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:124051000-124051800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:124051000-124052600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:124051800-124052000	Active TSS	Brain Hippocampus Middle	brain
25	chr7:124051800-124052000	Enhancers	NHLF	lung
26	chr7:124051800-124052200	Active TSS	Brain Substantia Nigra	brain
27	chr7:124051800-124052200	Enhancers	Fetal Heart	heart
28	chr7:124051800-124052400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr7:124051800-124052600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:124051800-124052800	Active TSS	Brain Angular Gyrus	brain
31	chr7:124052000-124052200	Enhancers	Adipose Nuclei	Adipose
32	chr7:124052000-124052200	Enhancers	Aorta	Aorta
33	chr7:124052000-124052200	Enhancers	Fetal Lung	lung
34	chr7:124052000-124052200	Enhancers	Left Ventricle	heart
35	chr7:124052000-124052200	Enhancers	Psoas Muscle	Psoas
36	chr7:124052000-124052200	Enhancers	Right Ventricle	heart
37	chr7:124052000-124052200	Enhancers	Spleen	Spleen
38	chr7:124052000-124052400	Active TSS	Brain Anterior Caudate	brain
39	chr7:124052000-124052400	Active TSS	Brain Cingulate Gyrus	brain
40	chr7:124052000-124052400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr7:124052000-124052400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:124052000-124052400	Active TSS	Duodenum Mucosa	Duodenum
43	chr7:124052000-124052400	Enhancers	Rectal Smooth Muscle	rectum
44	chr7:124052000-124052400	Active TSS	Stomach Smooth Muscle	stomach
45	chr7:124052000-124052400	Flanking Active TSS	NHLF	lung
46	chr7:124052000-124052600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:124052000-124052600	Active TSS	Ovary	ovary
48	chr7:124052000-124052600	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr7:124052000-124052800	Enhancers	Liver	Liver
50	chr7:124052000-124052800	Active TSS	Duodenum Smooth Muscle	Duodenum

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