Variant report

Variant	esv1808130
Chromosome Location	chr7:119332021-119388127
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:32)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:119360959..119363712-chr7:119366753..119368692,2	K562	blood:
2	chr7:119374698..119376654-chr7:119378712..119381116,2	K562	blood:
3	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
4	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
5	chr7:119364721..119367176-chr7:119381458..119383230,2	K562	blood:
6	chr7:119364396..119367239-chr7:119368438..119370916,2	K562	blood:
7	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
8	chr7:119356426..119358294-chr7:119362114..119365311,3	K562	blood:
9	chr7:119360284..119363279-chr7:119373457..119376079,2	K562	blood:
10	chr7:119379398..119381523-chr7:119383284..119384885,2	K562	blood:
11	chr7:119379398..119381523-chr7:119383284..119384885,2	K562	blood:
12	chr19:36605122..36607888-chr7:119364197..119366657,2	MCF-7	breast:
13	chr7:119356426..119358294-chr7:119363548..119365311,2	K562	blood:
14	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
15	chr7:119368480..119370359-chr7:119372677..119374451,2	K562	blood:
16	chr7:119383539..119386290-chr7:119392991..119394503,2	K562	blood:
17	chr7:119374698..119376654-chr7:119378712..119381116,2	K562	blood:
18	chr7:119356426..119358294-chr7:119363548..119365311,2	K562	blood:
19	chr7:119370722..119372961-chr7:119382422..119384559,2	K562	blood:
20	chr7:119368480..119370359-chr7:119372677..119374451,2	K562	blood:
21	chr7:119360959..119363712-chr7:119366753..119368692,2	K562	blood:
22	chr7:119336359..119340346-chr7:119340435..119346652,6	K562	blood:
23	chr7:119370722..119372961-chr7:119382422..119384559,2	K562	blood:
24	chr7:119356426..119358294-chr7:119362114..119365311,3	K562	blood:
25	chr7:119360284..119363279-chr7:119373457..119376079,2	K562	blood:
26	chr7:119346390..119349043-chr7:119407382..119409874,2	K562	blood:
27	chr7:119348460..119350527-chr7:119352829..119355249,2	K562	blood:
28	chr7:119364721..119367176-chr7:119381458..119383230,2	K562	blood:
29	chr7:119348460..119350527-chr7:119352829..119355249,2	K562	blood:
30	chr7:119336359..119340346-chr7:119340435..119346652,6	K562	blood:
31	chr7:119364396..119367239-chr7:119368438..119370916,2	K562	blood:
32	chr7:119325886..119327423-chr7:119329257..119332197,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCND2-2	chr7:119348262-119348369	NONHSAT122985
2	lnc-TSPAN12-4	chr7:119344610-119345026	XLOC_006580
3	lnc-KCND2-2	chr7:119344514-119347011	NONHSAT122985

No data

Variant related genes	Relation type
ENSG00000105258	chromatin interactions
ENSG00000105254	chromatin interactions

Extended variants
information (count: 1532 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1532 , 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	rs376475771	chr7:119341089-119341090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188896752	chr7:119341166-119341167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566709316	chr7:119341198-119341199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189363803	chr7:119341440-119341441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373794973	chr7:119341441-119341442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs565097536	chr7:119341448-119341449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs574611328	chr7:119341460-119341461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs79283245	chr7:119341476-119341477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs180738855	chr7:119341497-119341498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs11976044	chr7:119341500-119341501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs368480412	chr7:119341528-119341529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577570792	chr7:119341536-119341537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs73487112	chr7:119341582-119341583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs201736752	chr7:119341587-119341588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs75946354	chr7:119341605-119341606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs74604192	chr7:119341611-119341612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs574076701	chr7:119341642-119341643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs200178657	chr7:119341655-119341656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs140392784	chr7:119341658-119341659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150388033	chr7:119341667-119341668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs79617747	chr7:119341733-119341734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs76852050	chr7:119341734-119341735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs538919719	chr7:119341779-119341780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs566198551	chr7:119344525-119344526	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs141080700	chr7:119344560-119344561	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs535339231	chr7:119344564-119344565	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs558059179	chr7:119344603-119344604	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs578157509	chr7:119344619-119344620	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs77769631	chr7:119344662-119344663	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs113580950	chr7:119344689-119344690	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs116192657	chr7:119344761-119344762	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs541377824	chr7:119344804-119344805	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs369812812	chr7:119344809-119344810	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs79209500	chr7:119344858-119344859	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs563263359	chr7:119344888-119344889	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs75849352	chr7:119344913-119344914	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs564102059	chr7:119344952-119344953	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs185698841	chr7:119344969-119344970	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs550014464	chr7:119345004-119345005	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs528906814	chr7:119345056-119345057	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs561862539	chr7:119345087-119345088	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs376797157	chr7:119345114-119345115	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs189427551	chr7:119345225-119345226	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs140962774	chr7:119345231-119345232	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs548162232	chr7:119345274-119345275	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs181078624	chr7:119345276-119345277	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs549360519	chr7:119345321-119345322	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs566109303	chr7:119345344-119345345	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs528778199	chr7:119345345-119345346	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs74346399	chr7:119345443-119345444	Inactive region	lncRNA	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119341000-119341200	Weak transcription	K562	blood
2	chr7:119341400-119341800	ZNF genes & repeats	K562	blood
3	chr7:119345800-119346800	ZNF genes & repeats	K562	blood
4	chr7:119345800-119347000	Enhancers	Dnd41	blood
5	chr7:119346200-119347000	Enhancers	Fetal Heart	heart
6	chr7:119346400-119346800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:119346400-119346800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:119346800-119347200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:119346800-119348800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:119346800-119364200	Weak transcription	K562	blood
11	chr7:119347200-119347400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:119347400-119348600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:119348800-119349400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:119349000-119349200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:119351000-119351600	Active TSS	GM12878-XiMat	blood
16	chr7:119359000-119360600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:119359400-119362000	Enhancers	HUVEC	blood vessel
18	chr7:119360200-119360600	Enhancers	NHDF-Ad	bronchial
19	chr7:119360200-119361400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:119360200-119362400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:119360400-119361400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:119360400-119361600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:119360600-119362000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:119362000-119362600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:119364200-119364800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:119364200-119364800	Enhancers	K562	blood
27	chr7:119364800-119416000	Weak transcription	K562	blood
28	chr7:119366200-119367600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:119367600-119368000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:119368000-119374400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:119372800-119374400	Enhancers	HMEC	breast
32	chr7:119373000-119373600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:119373000-119373600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:119373000-119373800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:119373000-119374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr7:119373000-119374200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:119373000-119374200	Enhancers	NHEK	skin
38	chr7:119373600-119374000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:119374000-119374400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:119374400-119374600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:119382600-119384200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:119382800-119383400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr7:119383200-119384000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:119388000-119388600	Enhancers	Fetal Brain Female	brain
45	chr7:119388000-119389200	Enhancers	HUES48 Cell Line	embryonic stem cell

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