Variant report

Variant	nsv1018253
Chromosome Location	chr7:103669491-103731850
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:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:103713795..103716448-chr7:103718783..103721474,2	K562	blood:
2	chr7:103718036..103719817-chr7:103726997..103728693,2	K562	blood:
3	chr7:103705230..103707654-chr7:103709368..103711788,2	K562	blood:
4	chr7:103707332..103710161-chr7:103712975..103714553,2	K562	blood:
5	chr7:103656541..103658129-chr7:103668696..103670747,2	K562	blood:
6	chr7:103678553..103681396-chr7:103683210..103685831,2	K562	blood:
7	chr7:103713795..103716448-chr7:103718783..103721474,2	K562	blood:
8	chr7:103700972..103702526-chr7:103732509..103734230,2	K562	blood:
9	chr7:103657443..103659638-chr7:103669864..103671987,2	K562	blood:
10	chr7:103692758..103694800-chr7:103696390..103698638,2	K562	blood:
11	chr7:103705230..103707654-chr7:103709368..103711788,2	K562	blood:
12	chr7:103707332..103710161-chr7:103712975..103714553,2	K562	blood:
13	chr1:204096883..204097422-chr7:103713202..103713722,2	MCF-7	breast:
14	chr7:103713645..103715360-chr7:103715482..103717903,2	K562	blood:
15	chr7:103718036..103719817-chr7:103726997..103728693,2	K562	blood:
16	chr7:103658138..103659805-chr7:103669387..103671987,2	K562	blood:
17	chr7:103678553..103681396-chr7:103683210..103685831,2	K562	blood:
18	chr7:103713645..103715360-chr7:103715482..103717903,2	K562	blood:
19	chr7:103692758..103694800-chr7:103696390..103698638,2	K562	blood:
20	chr7:103649604..103651650-chr7:103686629..103688588,2	K562	blood:

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

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

No data

Extended variants
information (count: 1622 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1622 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116923715	chr7:103669505-103669506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552528281	chr7:103669530-103669531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570784446	chr7:103669553-103669554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182310206	chr7:103669583-103669584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150183971	chr7:103669650-103669651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574250903	chr7:103669665-103669666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28375592	chr7:103669683-103669684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187728673	chr7:103669726-103669727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575013321	chr7:103669740-103669741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138955038	chr7:103669742-103669743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192494025	chr7:103669755-103669756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200506938	chr7:103669802-103669803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7781650	chr7:103669828-103669829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs541702179	chr7:103669856-103669857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560099505	chr7:103669917-103669918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530272214	chr7:103669937-103669938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7798617	chr7:103669963-103669964	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs77741240	chr7:103669970-103669971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531013027	chr7:103669980-103669981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577432137	chr7:103670021-103670022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552436996	chr7:103670045-103670046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55695552	chr7:103670051-103670052	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs11367756	chr7:103670055-103670056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147109638	chr7:103670072-103670073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188297577	chr7:103670085-103670086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62485874	chr7:103670198-103670199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7799089	chr7:103670208-103670209	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556725022	chr7:103670215-103670216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138502722	chr7:103670232-103670233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539520223	chr7:103670236-103670237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557608757	chr7:103670288-103670289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572757950	chr7:103670290-103670291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539851157	chr7:103670314-103670315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367644663	chr7:103670352-103670353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569573269	chr7:103670418-103670419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193191142	chr7:103670498-103670499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575168470	chr7:103670514-103670515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545367940	chr7:103670535-103670536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10228745	chr7:103670560-103670561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs374661368	chr7:103670572-103670573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563869872	chr7:103670597-103670598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531049250	chr7:103670624-103670625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546236380	chr7:103670634-103670635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184623309	chr7:103670670-103670671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531609085	chr7:103670676-103670677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189845759	chr7:103670695-103670696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546606976	chr7:103670709-103670710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7803664	chr7:103670714-103670715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13225627	chr7:103670720-103670721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs143987083	chr7:103670723-103670724	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103668400-103669600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:103669200-103669600	Weak transcription	HepG2	liver
3	chr7:103669600-103670800	Enhancers	HepG2	liver
4	chr7:103670200-103670600	Enhancers	Liver	Liver
5	chr7:103671800-103672200	Enhancers	Brain Substantia Nigra	brain
6	chr7:103672000-103673600	Enhancers	K562	blood
7	chr7:103675800-103676000	ZNF genes & repeats	HepG2	liver
8	chr7:103675800-103676600	Enhancers	K562	blood
9	chr7:103676000-103679600	Enhancers	HepG2	liver
10	chr7:103676600-103679200	Weak transcription	K562	blood
11	chr7:103677000-103677600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr7:103679200-103680000	Enhancers	K562	blood
13	chr7:103679600-103688600	Weak transcription	HepG2	liver
14	chr7:103680000-103689200	Weak transcription	K562	blood
15	chr7:103680600-103681600	Enhancers	Colon Smooth Muscle	Colon
16	chr7:103680800-103681600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:103680800-103681600	Enhancers	Rectal Smooth Muscle	rectum
18	chr7:103681200-103681600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:103687600-103688800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:103688200-103689400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:103688600-103690200	Enhancers	HepG2	liver
22	chr7:103688800-103690000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:103689200-103690000	Enhancers	K562	blood
24	chr7:103690000-103690400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:103690200-103692800	Weak transcription	HepG2	liver
26	chr7:103690400-103690800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:103692800-103695400	Enhancers	HepG2	liver
28	chr7:103697200-103697800	Enhancers	HepG2	liver
29	chr7:103697800-103698200	Weak transcription	HepG2	liver
30	chr7:103698200-103701400	Enhancers	HepG2	liver
31	chr7:103699600-103699800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:103701400-103704800	Weak transcription	HepG2	liver
33	chr7:103704800-103705800	Enhancers	HepG2	liver
34	chr7:103705000-103705800	Enhancers	Liver	Liver
35	chr7:103705800-103706400	Flanking Active TSS	HepG2	liver
36	chr7:103706400-103708600	Enhancers	HepG2	liver
37	chr7:103708600-103708800	ZNF genes & repeats	HepG2	liver
38	chr7:103714400-103715800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:103718800-103719400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:103719200-103719600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr7:103720400-103721400	Enhancers	HepG2	liver
42	chr7:103729000-103730800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:103729400-103730400	Enhancers	HepG2	liver
44	chr7:103729400-103730600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:103729400-103732800	Enhancers	Brain Germinal Matrix	brain
46	chr7:103729400-103733200	Enhancers	K562	blood
47	chr7:103729600-103730200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:103729600-103730600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr7:103729600-103730800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:103729800-103730200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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