Variant report

Variant	nsv1026437
Chromosome Location	chr7:21119574-21162026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:21122637..21125555-chr7:21127865..21130767,4	K562	blood:
2	chr7:21121676..21124041-chr7:21125011..21127790,2	MCF-7	breast:
3	chr7:21122637..21125555-chr7:21127865..21130767,4	K562	blood:
4	chr7:21121676..21124041-chr7:21125011..21127790,2	MCF-7	breast:

Extended variants
information (count: 1745 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1745 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186691666	chr7:21119611-21119612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79722991	chr7:21119709-21119710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17143829	chr7:21119733-21119734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191172521	chr7:21119738-21119739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563565566	chr7:21119766-21119767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532327151	chr7:21119770-21119771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552473298	chr7:21119797-21119798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149216608	chr7:21119813-21119814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74514002	chr7:21119846-21119847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548273177	chr7:21119937-21119938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181002270	chr7:21119988-21119989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537610180	chr7:21120080-21120081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78915780	chr7:21120102-21120103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577436217	chr7:21120116-21120117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539721006	chr7:21120214-21120215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376139248	chr7:21120217-21120218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553733959	chr7:21120329-21120330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572069725	chr7:21120334-21120335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541640073	chr7:21120339-21120340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559548261	chr7:21120345-21120346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553571831	chr7:21120350-21120351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371588573	chr7:21120351-21120352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184920114	chr7:21120352-21120353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6961464	chr7:21120366-21120367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543577550	chr7:21120407-21120408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551650723	chr7:21120419-21120420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563318095	chr7:21120559-21120560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532371546	chr7:21120579-21120580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552043623	chr7:21120639-21120640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559269517	chr7:21120643-21120644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34092818	chr7:21120656-21120657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72163520	chr7:21120657-21120658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147550661	chr7:21120683-21120684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6461535	chr7:21120684-21120685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138591212	chr7:21120695-21120696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55743970	chr7:21120696-21120697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62442804	chr7:21120697-21120698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62442805	chr7:21120699-21120700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62442806	chr7:21120701-21120702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71023415	chr7:21120714-21120715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565065977	chr7:21120723-21120724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373550376	chr7:21120738-21120739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572145942	chr7:21120797-21120798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12667926	chr7:21120829-21120830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs116309084	chr7:21120836-21120837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377533727	chr7:21120846-21120847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71023416	chr7:21120889-21120890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551079448	chr7:21120898-21120899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190903624	chr7:21120954-21120955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12670013	chr7:21120955-21120956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21111000-21120600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:21116000-21123800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:21123800-21124000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:21124800-21125200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:21125400-21126400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:21125400-21126400	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:21125400-21127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:21125600-21127200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:21125600-21127200	Enhancers	NHEK	skin
10	chr7:21125600-21127400	Enhancers	HMEC	breast
11	chr7:21125800-21126400	Enhancers	Fetal Intestine Small	intestine
12	chr7:21125800-21126800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:21125800-21126800	Enhancers	Fetal Intestine Large	intestine
14	chr7:21125800-21127400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:21126400-21127000	Weak transcription	Fetal Intestine Small	intestine
16	chr7:21127000-21127200	Enhancers	Fetal Intestine Small	intestine
17	chr7:21127400-21139400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:21132400-21132600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr7:21132400-21133400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr7:21132600-21133000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr7:21132600-21133600	Enhancers	Gastric	stomach
22	chr7:21132600-21133600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr7:21133400-21141000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:21133600-21134800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:21133600-21139200	Weak transcription	Gastric	stomach
26	chr7:21134000-21134800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:21134400-21134600	Enhancers	HMEC	breast
28	chr7:21134600-21139000	Weak transcription	HMEC	breast
29	chr7:21134800-21136400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:21135600-21136400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:21136600-21136800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:21138800-21139600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:21139000-21139400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:21139000-21140000	Enhancers	HMEC	breast
35	chr7:21139200-21139400	Enhancers	Gastric	stomach
36	chr7:21139200-21140000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:21139200-21140200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:21139200-21140200	Enhancers	NHEK	skin
39	chr7:21139400-21140400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:21140200-21145400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:21140400-21144000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:21140600-21141800	Enhancers	Fetal Intestine Small	intestine
43	chr7:21141000-21141600	Enhancers	Duodenum Mucosa	Duodenum
44	chr7:21141000-21141800	Enhancers	Fetal Intestine Large	intestine
45	chr7:21141000-21142000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr7:21141200-21141600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr7:21141200-21141800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr7:21141600-21141800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr7:21141800-21142400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:21141800-21143400	Weak transcription	Fetal Intestine Small	intestine

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