Variant report

Variant	esv3477437
Chromosome Location	chr7:101382450-101384103
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:10)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101371362..101372936-chr7:101382706..101384319,2	MCF-7	breast:
2	chr7:101381459..101384895-chr7:101386139..101388176,3	K562	blood:
3	chr7:101376217..101377768-chr7:101381798..101384550,2	MCF-7	breast:
4	chr7:101383707..101389205-chr7:101455835..101460728,14	MCF-7	breast:
5	chr7:101381251..101383243-chr7:101457582..101460457,4	MCF-7	breast:
6	chr7:101376174..101379277-chr7:101381131..101384556,3	MCF-7	breast:
7	chr7:101358883..101362441-chr7:101383235..101387377,4	MCF-7	breast:
8	chr7:101383858..101388453-chr7:101455921..101461745,10	K562	blood:
9	chr7:101383126..101385865-chr7:101398297..101401164,2	MCF-7	breast:
10	chr7:101383224..101388686-chr7:101455921..101460973,10	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CUX1-1	chr7:101382581-101382711	FPKM1_group_30082_transcript_1
2	lnc-CUX1-1	chr7:101382637-101382867	FPKM1_group_30082_transcript_1
3	lnc-CUX1-1	chr7:101382581-101382711	NONHSAT122472
4	lnc-CUX1-1	chr7:101383141-101383371	NONHSAT122472

No data

Variant related genes	Relation type
ENSG00000257923	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531459754	chr7:101382464-101382465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs150826135	chr7:101382465-101382466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571307150	chr7:101382472-101382473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190051215	chr7:101382495-101382496	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs56257366	chr7:101382499-101382500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565678702	chr7:101382531-101382532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536101921	chr7:101382558-101382559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555345825	chr7:101382586-101382587	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs56024574	chr7:101382602-101382603	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538222829	chr7:101382621-101382622	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs376066119	chr7:101382651-101382652	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs116556977	chr7:101382698-101382699	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs150072649	chr7:101382699-101382700	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs545315801	chr7:101382758-101382759	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs554363152	chr7:101382759-101382760	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs146603266	chr7:101382779-101382780	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs75789084	chr7:101382804-101382805	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs553520350	chr7:101382829-101382830	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs386716280	chr7:101382862-101382863	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs77155650	chr7:101382863-101382864	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs181699614	chr7:101382887-101382888	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564877961	chr7:101382938-101382939	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4354243	chr7:101382943-101382944	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185093679	chr7:101382948-101382949	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141364894	chr7:101382955-101382956	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575934009	chr7:101382961-101382962	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548113643	chr7:101382962-101382963	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569592007	chr7:101382967-101382968	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537898153	chr7:101383004-101383005	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550137826	chr7:101383005-101383006	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571658159	chr7:101383018-101383019	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539073271	chr7:101383029-101383030	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs143821338	chr7:101383075-101383076	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189469900	chr7:101383090-101383091	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572550433	chr7:101383099-101383100	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs139140789	chr7:101383146-101383147	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs375071893	chr7:101383147-101383148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs560576476	chr7:101383167-101383168	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs372671551	chr7:101383234-101383235	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs146443864	chr7:101383246-101383247	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs576672739	chr7:101383449-101383450	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs149061597	chr7:101383478-101383479	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564858480	chr7:101383566-101383567	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368682659	chr7:101383573-101383574	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181852135	chr7:101383612-101383613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs62463686	chr7:101383637-101383638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185264287	chr7:101383642-101383643	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529867042	chr7:101383667-101383668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547976929	chr7:101383682-101383683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs374893094	chr7:101383793-101383794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	19907438	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101374400-101382800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:101377200-101383000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:101377200-101386600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:101377400-101382600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:101377400-101382600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:101377400-101384200	Weak transcription	Colonic Mucosa	Colon
7	chr7:101377800-101382600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:101377800-101382600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:101377800-101382800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:101377800-101382800	Weak transcription	Stomach Mucosa	stomach
11	chr7:101377800-101382800	Weak transcription	HSMM	muscle
12	chr7:101377800-101382800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:101378000-101382600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:101378000-101383000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:101378000-101383000	Weak transcription	Placenta	Placenta
16	chr7:101378200-101382600	Weak transcription	HepG2	liver
17	chr7:101378800-101382600	Weak transcription	Hela-S3	cervix
18	chr7:101380200-101382600	Weak transcription	Dnd41	blood
19	chr7:101381000-101383000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:101381000-101384200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:101381200-101384200	Enhancers	Fetal Thymus	thymus
22	chr7:101382200-101384000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:101382400-101383400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:101382400-101383400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:101382400-101384200	Enhancers	Thymus	Thymus
26	chr7:101382400-101384200	Enhancers	GM12878-XiMat	blood
27	chr7:101382600-101382800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:101382600-101383200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:101382600-101383200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:101382600-101383200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:101382600-101383200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr7:101382600-101383400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:101382600-101383400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr7:101382600-101383400	Enhancers	Pancreas	Pancrea
35	chr7:101382600-101383600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:101382600-101383600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:101382600-101383600	Enhancers	HepG2	liver
38	chr7:101382600-101383600	Enhancers	K562	blood
39	chr7:101382600-101383800	Enhancers	Hela-S3	cervix
40	chr7:101382600-101384000	Enhancers	Dnd41	blood
41	chr7:101382600-101384200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr7:101382600-101384200	Enhancers	Primary B cells from cord blood	blood
43	chr7:101382600-101384400	Enhancers	Primary hematopoietic stem cells	blood
44	chr7:101382800-101383200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr7:101382800-101383200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr7:101382800-101383200	Enhancers	HUVEC	blood vessel
47	chr7:101382800-101383400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:101382800-101383400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr7:101382800-101383400	Enhancers	A549	lung
50	chr7:101382800-101383400	Enhancers	HSMM	muscle

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