Variant report

Variant	esv3324215
Chromosome Location	chr7:40135127-40141025
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:40130215..40132846-chr7:40133657..40135422,2	K562	blood:
2	chr7:40131598..40134106-chr7:40137449..40139937,2	MCF-7	breast:
3	chr7:40139705..40142810-chr7:40143193..40146222,3	K562	blood:
4	chr7:40135569..40137778-chr7:40140510..40143010,2	MCF-7	breast:
5	chr7:40132356..40134649-chr7:40137450..40139023,2	K562	blood:
6	chr7:40135569..40137778-chr7:40140510..40143010,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf10-5	chr7:40135564-40136731	NONHSAT120243

No data

Variant related genes	Relation type
ENSG00000065883	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs35644284	chr7:40135145-40135146	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs397727704	chr7:40135156-40135157	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529384553	chr7:40135161-40135162	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555134876	chr7:40135163-40135164	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs17538342	chr7:40135164-40135165	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185503426	chr7:40135240-40135241	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540907587	chr7:40135245-40135246	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376717354	chr7:40135306-40135307	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373069545	chr7:40135314-40135315	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143319488	chr7:40135340-40135341	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs17538349	chr7:40135344-40135345	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34558429	chr7:40135353-40135354	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571161552	chr7:40135369-40135370	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs369227357	chr7:40135441-40135442	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556729275	chr7:40135445-40135446	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561349469	chr7:40135465-40135466	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17538356	chr7:40135471-40135472	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567396876	chr7:40135511-40135512	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536324642	chr7:40135523-40135524	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552829196	chr7:40135560-40135561	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373636683	chr7:40135569-40135570	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs11769409	chr7:40135570-40135571	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs538614160	chr7:40135604-40135605	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs558593347	chr7:40135627-40135628	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs3801238	chr7:40135669-40135670	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189435096	chr7:40135682-40135683	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs181766874	chr7:40135696-40135697	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs562239528	chr7:40135746-40135747	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs563883629	chr7:40135756-40135757	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs150742219	chr7:40135764-40135765	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs187502975	chr7:40135769-40135770	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs17496826	chr7:40135812-40135813	Enhancers Weak transcription Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs397844085	chr7:40135813-40135814	Enhancers Weak transcription Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs559560595	chr7:40135822-40135823	Enhancers Weak transcription Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs137901169	chr7:40135835-40135836	Enhancers Weak transcription Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs142327632	chr7:40135856-40135857	Enhancers Weak transcription Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs566915418	chr7:40135996-40135997	Enhancers Weak transcription Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs530713091	chr7:40136051-40136052	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs550491452	chr7:40136150-40136151	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs115986192	chr7:40136242-40136243	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs377556599	chr7:40136270-40136271	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs546797663	chr7:40136309-40136310	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs191433030	chr7:40136333-40136334	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs538775942	chr7:40136409-40136410	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs558581543	chr7:40136439-40136440	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs575337852	chr7:40136447-40136448	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs537723525	chr7:40136484-40136485	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs557335723	chr7:40136523-40136524	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs574296416	chr7:40136530-40136531	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs6945229	chr7:40136560-40136561	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40116400-40136000	Weak transcription	Fetal Brain Male	brain
2	chr7:40117600-40138000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:40118600-40136600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr7:40119800-40135600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:40122400-40135800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:40122800-40137600	Strong transcription	Dnd41	blood
7	chr7:40124000-40137600	Strong transcription	Duodenum Mucosa	Duodenum
8	chr7:40124000-40137800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:40124000-40138400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr7:40124400-40136000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr7:40124400-40136400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:40124400-40137800	Strong transcription	Primary T cells from cord blood	blood
13	chr7:40125000-40137600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:40125200-40135800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:40125800-40135800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:40125800-40136000	Strong transcription	Fetal Thymus	thymus
17	chr7:40125800-40136200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:40125800-40137600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr7:40125800-40137800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:40126000-40142400	Weak transcription	Fetal Heart	heart
21	chr7:40126600-40135200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:40126600-40136400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:40126600-40137200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:40126800-40135600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:40127400-40135600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:40127400-40136600	Strong transcription	Primary B cells from cord blood	blood
27	chr7:40127400-40137600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:40127600-40135200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:40127600-40136000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:40127600-40136400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr7:40127800-40135400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:40127800-40135800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr7:40127800-40136600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:40130800-40137000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:40131000-40135600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:40131000-40136000	Strong transcription	Osteobl	bone
37	chr7:40131000-40137800	Strong transcription	HSMM	muscle
38	chr7:40131200-40135200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:40131200-40135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:40131200-40136200	Strong transcription	K562	blood
41	chr7:40131200-40136400	Strong transcription	A549	lung
42	chr7:40131200-40136600	Strong transcription	Placenta	Placenta
43	chr7:40131200-40137600	Strong transcription	Hela-S3	cervix
44	chr7:40131400-40136200	Strong transcription	Fetal Lung	lung
45	chr7:40131400-40137800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:40131400-40141400	Weak transcription	Stomach Mucosa	stomach
47	chr7:40131600-40136200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:40131600-40136200	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr7:40131600-40137600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr7:40131800-40135600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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