Variant report

Variant	nsv888924
Chromosome Location	chr7:103637906-103706936
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:38)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:103659260..103661864-chr7:103662623..103664165,2	K562	blood:
2	chr7:103632737..103634639-chr7:103635912..103638450,2	MCF-7	breast:
3	chr7:103705230..103707654-chr7:103709368..103711788,2	K562	blood:
4	chr7:103632576..103634948-chr7:103642907..103645335,2	K562	blood:
5	chr7:103656541..103658129-chr7:103668696..103670747,2	K562	blood:
6	chr7:103628980..103630877-chr7:103656452..103658891,2	K562	blood:
7	chr7:103657443..103659638-chr7:103669864..103671987,2	K562	blood:
8	chr7:103642823..103645375-chr7:103646711..103649116,3	K562	blood:
9	chr7:103692758..103694800-chr7:103696390..103698638,2	K562	blood:
10	chr7:103636664..103638989-chr7:103639066..103643319,4	K562	blood:
11	chr7:103657443..103659638-chr7:103669864..103671987,2	K562	blood:
12	chr7:103636664..103638989-chr7:103639066..103642018,4	K562	blood:
13	chr7:103296674..103299385-chr7:103636597..103638114,2	K562	blood:
14	chr7:103649604..103651650-chr7:103686629..103688588,2	K562	blood:
15	chr7:103634035..103636862-chr7:103643704..103646091,2	K562	blood:
16	chr7:103636513..103639487-chr7:103645441..103647479,2	K562	blood:
17	chr7:103658138..103659805-chr7:103669387..103671987,2	K562	blood:
18	chr7:103636513..103639487-chr7:103645441..103647479,2	K562	blood:
19	chr7:103636664..103638989-chr7:103639066..103642018,4	K562	blood:
20	chr7:103659260..103661864-chr7:103662623..103664165,2	K562	blood:
21	chr7:103649399..103652375-chr7:103652385..103654940,3	K562	blood:
22	chr7:103656541..103658129-chr7:103668696..103670747,2	K562	blood:
23	chr7:103658138..103659805-chr7:103669387..103671987,2	K562	blood:
24	chr7:103642823..103645375-chr7:103646711..103649116,3	K562	blood:
25	chr7:103630477..103632147-chr7:103644604..103646445,2	K562	blood:
26	chr7:103648042..103650999-chr7:103656412..103659096,2	K562	blood:
27	chr7:103678553..103681396-chr7:103683210..103685831,2	K562	blood:
28	chr7:103636664..103638989-chr7:103639066..103643319,4	K562	blood:
29	chr7:103644942..103647094-chr7:104653022..104655618,2	K562	blood:
30	chr7:103678553..103681396-chr7:103683210..103685831,2	K562	blood:
31	chr7:103517390..103519695-chr7:103666602..103669150,2	K562	blood:
32	chr7:103649604..103651650-chr7:103686629..103688588,2	K562	blood:
33	chr7:103564555..103566285-chr7:103650093..103652730,2	K562	blood:
34	chr7:103692758..103694800-chr7:103696390..103698638,2	K562	blood:
35	chr7:103629356..103631681-chr7:103640857..103643810,2	K562	blood:
36	chr7:103700972..103702526-chr7:103732509..103734230,2	K562	blood:
37	chr7:103649399..103652375-chr7:103652385..103654940,3	K562	blood:
38	chr7:103648042..103650999-chr7:103656412..103659096,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RELN-1	chr7:103642282-103642544	XLOC_006551
2	lnc-RELN-1	chr7:103672594-103672626	XLOC_006551

No data

Variant related genes	Relation type
ENSG00000239569	chromatin interactions
ENSG00000189056	chromatin interactions
ENSG00000005483	chromatin interactions
ENSG00000228393	chromatin interactions

Extended variants
information (count: 2267 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2267 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6955789	chr7:103637906-103637907	Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190263933	chr7:103637939-103637940	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558860918	chr7:103638028-103638029	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536368056	chr7:103638032-103638033	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540069962	chr7:103638035-103638036	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114898459	chr7:103638081-103638082	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573300465	chr7:103638093-103638094	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540582340	chr7:103638143-103638144	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544494512	chr7:103638146-103638147	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555482538	chr7:103638223-103638224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377188221	chr7:103638231-103638232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35898997	chr7:103638270-103638271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544117234	chr7:103638286-103638287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566495192	chr7:103638297-103638298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182130944	chr7:103638313-103638314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142346445	chr7:103638345-103638346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574589624	chr7:103638360-103638361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544849803	chr7:103638380-103638381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533824446	chr7:103638394-103638395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374515819	chr7:103638406-103638407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560182249	chr7:103638453-103638454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146272112	chr7:103638459-103638460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60769146	chr7:103638460-103638461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560742120	chr7:103638470-103638471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529574851	chr7:103638559-103638560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551277565	chr7:103638560-103638561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12056280	chr7:103638596-103638597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147962616	chr7:103638608-103638609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185292607	chr7:103638611-103638612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12056281	chr7:103638645-103638646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35252264	chr7:103638689-103638690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs111794997	chr7:103638699-103638700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555946351	chr7:103638789-103638790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116447163	chr7:103638792-103638793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189952883	chr7:103638908-103638909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183799180	chr7:103639010-103639011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148998164	chr7:103639012-103639013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371652416	chr7:103639013-103639014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545146182	chr7:103639029-103639030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560092169	chr7:103639038-103639039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562532034	chr7:103639079-103639080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572077257	chr7:103639091-103639092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6961175	chr7:103639108-103639109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs116208130	chr7:103639161-103639162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368587032	chr7:103639200-103639201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143810405	chr7:103639214-103639215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58095345	chr7:103639230-103639231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563138304	chr7:103639298-103639299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533672937	chr7:103639304-103639305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551926221	chr7:103639349-103639350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103636600-103638000	Enhancers	Liver	Liver
2	chr7:103636600-103638000	Enhancers	HepG2	liver
3	chr7:103637600-103638200	Genic enhancers	K562	blood
4	chr7:103638000-103647600	Weak transcription	HepG2	liver
5	chr7:103638200-103641600	Weak transcription	K562	blood
6	chr7:103641600-103641800	Enhancers	K562	blood
7	chr7:103641800-103642200	Weak transcription	K562	blood
8	chr7:103642200-103643000	Enhancers	K562	blood
9	chr7:103643000-103645800	Weak transcription	K562	blood
10	chr7:103645600-103646000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:103645600-103646200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:103645600-103646200	Enhancers	HUVEC	blood vessel
13	chr7:103645800-103646200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:103645800-103646200	Enhancers	K562	blood
15	chr7:103645800-103646200	Enhancers	Osteobl	bone
16	chr7:103646000-103650400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:103647600-103650200	Enhancers	HepG2	liver
18	chr7:103650000-103651200	Enhancers	Liver	Liver
19	chr7:103650200-103650600	Flanking Active TSS	HepG2	liver
20	chr7:103650400-103650600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:103650400-103650600	Enhancers	Pancreas	Pancrea
22	chr7:103650400-103650800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:103650400-103651200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:103650400-103651400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:103650600-103651000	Enhancers	HepG2	liver
26	chr7:103651000-103651200	Flanking Active TSS	HepG2	liver
27	chr7:103651200-103652000	Enhancers	HepG2	liver
28	chr7:103652200-103652800	Enhancers	Fetal Heart	heart
29	chr7:103655800-103656000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:103656000-103656200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:103656200-103656400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:103656400-103656800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:103657600-103657800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:103657600-103658000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:103662400-103663000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:103662400-103663800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:103663200-103666000	Enhancers	HepG2	liver
38	chr7:103663800-103664000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:103665200-103665400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr7:103666000-103666400	Flanking Active TSS	HepG2	liver
41	chr7:103666400-103667200	Enhancers	HepG2	liver
42	chr7:103667200-103668200	Weak transcription	HepG2	liver
43	chr7:103668200-103669200	Enhancers	HepG2	liver
44	chr7:103668400-103668800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr7:103668400-103669600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:103669200-103669600	Weak transcription	HepG2	liver
47	chr7:103669600-103670800	Enhancers	HepG2	liver
48	chr7:103670200-103670600	Enhancers	Liver	Liver
49	chr7:103671800-103672200	Enhancers	Brain Substantia Nigra	brain
50	chr7:103672000-103673600	Enhancers	K562	blood

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