Variant report

Variant	nsv608465
Chromosome Location	chr7:136888610-136935459
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:2)
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	chr7:136845496..136847194-chr7:136910849..136912754,2	MCF-7	breast:
2	chr7:136930142..136933282-chr7:136935160..136937647,3	K562	blood:
3	chr7:136930142..136933282-chr7:136935160..136937647,3	K562	blood:
4	chr7:136915442..136917934-chr7:136955995..136958425,2	K562	blood:
5	chr7:136902230..136905119-chr7:136906745..136908628,2	K562	blood:
6	chr7:136926388..136929879-chr7:136930158..136932908,3	K562	blood:
7	chr7:136903773..136906656-chr7:137136989..137139613,2	K562	blood:
8	chr7:136889214..136890885-chr7:136891240..136892885,2	K562	blood:
9	chr7:136926388..136929879-chr7:136930158..136932908,3	K562	blood:
10	chr7:136902230..136905119-chr7:136906745..136908628,2	K562	blood:
11	chr7:136911465..136914095-chr7:136917447..136919624,2	K562	blood:
12	chr7:136915740..136917893-chr7:136923118..136925670,2	K562	blood:
13	chr7:136926388..136928401-chr7:136930158..136932908,2	K562	blood:
14	chr7:136889214..136890885-chr7:136891240..136892885,2	K562	blood:
15	chr7:136911465..136914095-chr7:136917447..136919624,2	K562	blood:
16	chr7:136915740..136917893-chr7:136923118..136925670,2	K562	blood:
17	chr20:57132638..57133600-chr7:136910924..136911916,2	MCF-7	breast:
18	chr7:136768600..136771525-chr7:136904072..136906566,2	K562	blood:
19	chr7:136872945..136874531-chr7:136887427..136890361,2	MCF-7	breast:
20	chr7:136926388..136928401-chr7:136930158..136932908,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTN-4	chr7:136888720-136888959	NONHSAT123576
2	lnc-PTN-4	chr7:136889380-136889587	NONHSAT123576

No data

Variant related genes	Relation type
ENSG00000157680	chromatin interactions

Extended variants
information (count: 1828 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1828 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs832984	chr7:136888610-136888611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79208958	chr7:136888615-136888616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532151028	chr7:136888688-136888689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148750826	chr7:136888714-136888715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565982343	chr7:136888715-136888716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144703664	chr7:136888729-136888730	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs186021539	chr7:136888827-136888828	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs542658450	chr7:136888832-136888833	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs147887050	chr7:136888833-136888834	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs34606861	chr7:136888972-136888973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369136740	chr7:136888980-136888981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78696399	chr7:136889015-136889016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538662989	chr7:136889036-136889037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189612952	chr7:136889091-136889092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572725139	chr7:136889092-136889093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141539347	chr7:136889093-136889094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564429065	chr7:136889161-136889162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578085781	chr7:136889169-136889170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183262826	chr7:136889192-136889193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187584512	chr7:136889226-136889227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574447419	chr7:136889227-136889228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543499066	chr7:136889309-136889310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145296967	chr7:136889326-136889327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543557193	chr7:136889358-136889359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190866240	chr7:136889359-136889360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115376952	chr7:136889381-136889382	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs567756681	chr7:136889388-136889389	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs183539375	chr7:136889391-136889392	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs116775864	chr7:136889411-136889412	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs529229689	chr7:136889422-136889423	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs73162483	chr7:136889447-136889448	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150998734	chr7:136889459-136889460	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs530627903	chr7:136889460-136889461	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs140843251	chr7:136889501-136889502	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs79876785	chr7:136889502-136889503	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs560090728	chr7:136889510-136889511	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs373441793	chr7:136889516-136889517	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs566229518	chr7:136889540-136889541	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs73727888	chr7:136889572-136889573	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188590358	chr7:136889596-136889597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574937771	chr7:136889619-136889620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537659781	chr7:136889657-136889658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200152640	chr7:136889670-136889671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150148732	chr7:136889683-136889684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577042527	chr7:136889744-136889745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545799755	chr7:136889806-136889807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559341525	chr7:136889808-136889809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572753224	chr7:136889861-136889862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542066340	chr7:136889899-136889900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561848697	chr7:136889933-136889934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Adenocarcinoma	21044232	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	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136887000-136897200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:136893600-136897200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:136894000-136894600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:136897200-136897400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:136897200-136898200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr7:136897400-136897600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:136897600-136900600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:136898200-136901600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:136900600-136913400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:136900800-136901800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:136901600-136922800	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:136901800-136902200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:136902000-136933800	Weak transcription	Fetal Brain Female	brain
14	chr7:136902200-136915800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:136903400-136905600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:136903400-136908200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:136903400-136910400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:136903600-136904000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:136903600-136904000	Enhancers	Brain Angular Gyrus	brain
20	chr7:136904000-136909400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:136904600-136904800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:136904600-136905600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:136904800-136909400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:136905800-136906000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:136905800-136906600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:136906000-136909600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:136906400-136906600	ZNF genes & repeats	Fetal Stomach	stomach
28	chr7:136906600-136910600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:136906600-136925200	Weak transcription	Fetal Stomach	stomach
30	chr7:136908200-136912800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:136909200-136912800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:136909200-136922600	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:136909400-136909600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:136909400-136909800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:136909400-136911000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:136909600-136909800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:136909600-136909800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:136909600-136935800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:136909800-136910400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:136909800-136926200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:136909800-136943000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:136910200-136911600	Enhancers	Fetal Heart	heart
43	chr7:136910200-136913800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:136910400-136911000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:136910400-136911200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:136910400-136911200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:136910400-136911800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:136910600-136911400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:136910800-136911000	Bivalent Enhancer	HSMMtube	muscle
50	chr7:136911000-136922400	Weak transcription	Brain Substantia Nigra	brain

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