Variant report

Variant	esv2761359
Chromosome Location	chr7:119346029-119389984
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:30)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
2	chr7:119348460..119350527-chr7:119352829..119355249,2	K562	blood:
3	chr7:119383539..119386290-chr7:119392991..119394503,2	K562	blood:
4	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
5	chr7:119379398..119381523-chr7:119383284..119384885,2	K562	blood:
6	chr7:119368480..119370359-chr7:119372677..119374451,2	K562	blood:
7	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
8	chr7:119360959..119363712-chr7:119366753..119368692,2	K562	blood:
9	chr7:119356426..119358294-chr7:119363548..119365311,2	K562	blood:
10	chr7:119360284..119363279-chr7:119373457..119376079,2	K562	blood:
11	chr7:119360959..119363712-chr7:119366753..119368692,2	K562	blood:
12	chr19:36605122..36607888-chr7:119364197..119366657,2	MCF-7	breast:
13	chr7:119374698..119376654-chr7:119378712..119381116,2	K562	blood:
14	chr7:119356426..119358294-chr7:119362114..119365311,3	K562	blood:
15	chr7:119360284..119363279-chr7:119373457..119376079,2	K562	blood:
16	chr7:119374698..119376654-chr7:119378712..119381116,2	K562	blood:
17	chr7:119348460..119350527-chr7:119352829..119355249,2	K562	blood:
18	chr7:119364396..119367239-chr7:119368438..119370916,2	K562	blood:
19	chr7:119368480..119370359-chr7:119372677..119374451,2	K562	blood:
20	chr7:119356426..119358294-chr7:119362114..119365311,3	K562	blood:
21	chr7:119370722..119372961-chr7:119382422..119384559,2	K562	blood:
22	chr7:119364396..119367239-chr7:119368438..119370916,2	K562	blood:
23	chr7:119364721..119367176-chr7:119381458..119383230,2	K562	blood:
24	chr7:119346390..119349043-chr7:119407382..119409874,2	K562	blood:
25	chr7:119364721..119367176-chr7:119381458..119383230,2	K562	blood:
26	chr7:119379398..119381523-chr7:119383284..119384885,2	K562	blood:
27	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
28	chr7:119370722..119372961-chr7:119382422..119384559,2	K562	blood:
29	chr7:119356426..119358294-chr7:119363548..119365311,2	K562	blood:
30	chr7:119336359..119340346-chr7:119340435..119346652,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCND2-2	chr7:119348262-119348369	NONHSAT122985
2	lnc-KCND2-2	chr7:119344514-119347011	NONHSAT122985

No data

Variant related genes	Relation type
ENSG00000105254	chromatin interactions
ENSG00000105258	chromatin interactions

Extended variants
information (count: 1511 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1511 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537715062	chr7:119346034-119346035	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
2	rs4529399	chr7:119346042-119346043	Enhancers ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77508285	chr7:119346067-119346068	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
4	rs565651889	chr7:119346092-119346093	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
5	rs553514993	chr7:119346192-119346193	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs557472581	chr7:119346196-119346197	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs146430431	chr7:119346209-119346210	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs567603293	chr7:119346211-119346212	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs557193663	chr7:119346236-119346237	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs536259550	chr7:119346256-119346257	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs573909371	chr7:119346300-119346301	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs542740623	chr7:119346305-119346306	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs139856165	chr7:119346378-119346379	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs78855620	chr7:119346390-119346391	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs545344771	chr7:119346392-119346393	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs573369964	chr7:119346408-119346409	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs35158782	chr7:119346474-119346475	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs557323719	chr7:119346545-119346546	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs143309598	chr7:119346546-119346547	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs550890240	chr7:119346575-119346576	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs545544013	chr7:119346602-119346603	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs561127262	chr7:119346606-119346607	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs79991693	chr7:119346617-119346618	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs146724520	chr7:119346659-119346660	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs565723959	chr7:119346681-119346682	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs207468494	chr7:119346704-119346705	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs140315552	chr7:119346755-119346756	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs551348120	chr7:119346768-119346769	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs571311572	chr7:119346818-119346819	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs557965621	chr7:119346820-119346821	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs537324108	chr7:119346880-119346881	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs371510490	chr7:119346886-119346887	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs557328989	chr7:119346892-119346893	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs574002119	chr7:119346895-119346896	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs576826266	chr7:119346977-119346978	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs577780767	chr7:119346997-119346998	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs58034992	chr7:119347009-119347010	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552899038	chr7:119347053-119347054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369268713	chr7:119347056-119347057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573276882	chr7:119347095-119347096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143555406	chr7:119347181-119347182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564912057	chr7:119347189-119347190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73211876	chr7:119347192-119347193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544214842	chr7:119347204-119347205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561217464	chr7:119347210-119347211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140895075	chr7:119347212-119347213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547131855	chr7:119347322-119347323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560564705	chr7:119347331-119347332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112671629	chr7:119347348-119347349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185999988	chr7:119347378-119347379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119345800-119346800	ZNF genes & repeats	K562	blood
2	chr7:119345800-119347000	Enhancers	Dnd41	blood
3	chr7:119346200-119347000	Enhancers	Fetal Heart	heart
4	chr7:119346400-119346800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:119346400-119346800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:119346800-119347200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:119346800-119348800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:119346800-119364200	Weak transcription	K562	blood
9	chr7:119347200-119347400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:119347400-119348600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:119348800-119349400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:119349000-119349200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:119351000-119351600	Active TSS	GM12878-XiMat	blood
14	chr7:119359000-119360600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:119359400-119362000	Enhancers	HUVEC	blood vessel
16	chr7:119360200-119360600	Enhancers	NHDF-Ad	bronchial
17	chr7:119360200-119361400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:119360200-119362400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:119360400-119361400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:119360400-119361600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:119360600-119362000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:119362000-119362600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:119364200-119364800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:119364200-119364800	Enhancers	K562	blood
25	chr7:119364800-119416000	Weak transcription	K562	blood
26	chr7:119366200-119367600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:119367600-119368000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:119368000-119374400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:119372800-119374400	Enhancers	HMEC	breast
30	chr7:119373000-119373600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:119373000-119373600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:119373000-119373800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:119373000-119374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:119373000-119374200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:119373000-119374200	Enhancers	NHEK	skin
36	chr7:119373600-119374000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:119374000-119374400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:119374400-119374600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:119382600-119384200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:119382800-119383400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:119383200-119384000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:119388000-119388600	Enhancers	Fetal Brain Female	brain
43	chr7:119388000-119389200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:119388200-119390200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:119388400-119388800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:119388400-119388800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:119388600-119389000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr7:119388600-119389600	Enhancers	Fetal Heart	heart
49	chr7:119388600-119389600	Enhancers	Fetal Lung	lung
50	chr7:119388800-119389400	Enhancers	Brain Germinal Matrix	brain

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