Variant report

Variant	nsv824319
Chromosome Location	chr7:140004029-140009178
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:0)
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	chr7:139874353..139878653-chr7:140002839..140006488,5	MCF-7	breast:
2	chr7:139763576..139765884-chr7:140005979..140008523,2	MCF-7	breast:
3	chr7:139874404..139875497-chr7:140004011..140004953,5	MCF-7	breast:
4	chr7:140000240..140002931-chr7:140009039..140011933,3	MCF-7	breast:
5	chr7:139875119..139878535-chr7:140008381..140012016,6	MCF-7	breast:
6	chr7:139875385..139877757-chr7:140002862..140004981,2	K562	blood:
7	chr7:139735195..139737429-chr7:140002839..140005708,2	MCF-7	breast:
8	chr7:140004952..140007749-chr7:140008011..140010773,2	MCF-7	breast:
9	chr7:140004434..140006473-chr7:140014636..140016485,2	MCF-7	breast:
10	chr7:139875385..139878078-chr7:140000730..140004362,3	K562	blood:
11	chr7:140004952..140007749-chr7:140008011..140010773,2	MCF-7	breast:
12	chr7:139875379..139877592-chr7:140008407..140010422,2	MCF-7	breast:
13	chr7:139983287..139985167-chr7:140004183..140006498,2	K562	blood:
14	chr7:140003129..140009929-chr7:140011645..140017997,10	MCF-7	breast:
15	chr7:139975596..139977412-chr7:140003455..140004991,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260231	chromatin interactions
ENSG00000006459	chromatin interactions

Extended variants
information (count: 184 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13247616	chr7:140004039-140004040	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148285413	chr7:140004071-140004072	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs573590862	chr7:140004084-140004085	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532591038	chr7:140004103-140004104	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551190617	chr7:140004139-140004140	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543911264	chr7:140004164-140004165	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs182151986	chr7:140004287-140004288	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549115543	chr7:140004403-140004404	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs567229075	chr7:140004419-140004420	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142992209	chr7:140004432-140004433	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs59776096	chr7:140004434-140004435	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571557538	chr7:140004546-140004547	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs79439979	chr7:140004590-140004591	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34704371	chr7:140004702-140004703	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs191673487	chr7:140004713-140004714	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs550576948	chr7:140004735-140004736	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs569024151	chr7:140004745-140004746	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs10276766	chr7:140004752-140004753	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572901949	chr7:140004756-140004757	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540666385	chr7:140004908-140004909	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs182541698	chr7:140004939-140004940	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554165015	chr7:140004985-140004986	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs577494840	chr7:140004986-140004987	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs138375164	chr7:140004995-140004996	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562499413	chr7:140005031-140005032	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs563037790	chr7:140005079-140005080	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371958558	chr7:140005089-140005090	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs57303655	chr7:140005123-140005124	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs56928280	chr7:140005127-140005128	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544959169	chr7:140005135-140005136	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs59567218	chr7:140005137-140005138	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs566299696	chr7:140005177-140005178	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs11769879	chr7:140005193-140005194	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188221519	chr7:140005202-140005203	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377195658	chr7:140005244-140005245	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs528064762	chr7:140005274-140005275	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs546606576	chr7:140005288-140005289	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs62491838	chr7:140005335-140005336	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs193172670	chr7:140005338-140005339	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs185456674	chr7:140005397-140005398	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs550475089	chr7:140005412-140005413	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs568667093	chr7:140005450-140005451	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs536091350	chr7:140005476-140005477	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs139830413	chr7:140005522-140005523	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs566697175	chr7:140005567-140005568	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs112107676	chr7:140005575-140005576	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs200681921	chr7:140005584-140005585	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs188979817	chr7:140005638-140005639	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs533919027	chr7:140005662-140005663	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs11761116	chr7:140005703-140005704	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	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
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139986800-140007800	Weak transcription	Fetal Intestine Small	intestine
2	chr7:139999600-140008800	Weak transcription	Colonic Mucosa	Colon
3	chr7:139999800-140004200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr7:140000200-140004200	Enhancers	HepG2	liver
5	chr7:140003200-140006600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr7:140003200-140006800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr7:140003400-140004200	Weak transcription	Stomach Mucosa	stomach
8	chr7:140003400-140004600	Enhancers	Primary B cells from cord blood	blood
9	chr7:140003400-140010000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:140003600-140004800	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:140004000-140004200	Enhancers	GM12878-XiMat	blood
12	chr7:140004000-140004400	Enhancers	Primary T cells from cord blood	blood
13	chr7:140004000-140004600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr7:140004000-140004600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr7:140004000-140004600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:140004000-140005000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:140004200-140004400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr7:140004200-140004400	Flanking Active TSS	GM12878-XiMat	blood
19	chr7:140004200-140004400	Enhancers	K562	blood
20	chr7:140004200-140004600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr7:140004200-140004600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr7:140004200-140004600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:140004200-140004600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:140004200-140004600	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:140004200-140004600	Enhancers	Small Intestine	intestine
26	chr7:140004200-140004600	Flanking Active TSS	HepG2	liver
27	chr7:140004200-140004800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr7:140004200-140004800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr7:140004200-140004800	Enhancers	Stomach Mucosa	stomach
30	chr7:140004600-140005600	Weak transcription	Primary B cells from cord blood	blood
31	chr7:140004600-140007800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:140004600-140007800	Weak transcription	Small Intestine	intestine
33	chr7:140004600-140010200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:140004600-140011200	Enhancers	HepG2	liver
35	chr7:140004600-140015400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr7:140004800-140005200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr7:140004800-140005800	Weak transcription	Stomach Mucosa	stomach
38	chr7:140005200-140005800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr7:140005600-140007000	Enhancers	Primary B cells from cord blood	blood
40	chr7:140005800-140006800	Enhancers	Stomach Mucosa	stomach
41	chr7:140005800-140007400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr7:140006000-140015400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:140006200-140006600	Enhancers	Gastric	stomach
44	chr7:140006600-140009200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:140006800-140008000	Weak transcription	Stomach Mucosa	stomach
46	chr7:140006800-140009400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr7:140007000-140011600	Weak transcription	Primary B cells from cord blood	blood
48	chr7:140007400-140008200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:140007400-140008400	Enhancers	Colon Smooth Muscle	Colon
50	chr7:140007400-140010800	Enhancers	Ovary	ovary

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