Variant report

Variant	nsv971483
Chromosome Location	chr7:21479694-21488485
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:21482757..21484711-chr7:21494486..21496179,2	K562	blood:
2	chr7:21478973..21480916-chr7:21483691..21486071,2	K562	blood:
3	chr7:21465232..21467333-chr7:21480661..21482272,2	K562	blood:
4	chr7:21478973..21480916-chr7:21483691..21486071,2	K562	blood:
5	chr7:21466062..21469694-chr7:21474540..21481280,7	MCF-7	breast:
6	chr7:21467774..21470403-chr7:21485720..21488504,2	K562	blood:
7	chr7:21465833..21470662-chr7:21478893..21484053,5	K562	blood:

Variant related genes	Relation type
ENSG00000105866	chromatin interactions

Extended variants
information (count: 364 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532626974	chr7:21479703-21479704	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552711952	chr7:21479725-21479726	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548853474	chr7:21479737-21479738	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568604072	chr7:21479795-21479796	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143484740	chr7:21479805-21479806	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551131306	chr7:21479811-21479812	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147148801	chr7:21479859-21479860	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188405036	chr7:21479870-21479871	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533875210	chr7:21479887-21479888	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547647724	chr7:21479927-21479928	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111497625	chr7:21479931-21479932	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138368740	chr7:21479982-21479983	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538109717	chr7:21479983-21479984	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191750950	chr7:21480019-21480020	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1978154	chr7:21480036-21480037	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149336229	chr7:21480046-21480047	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201018907	chr7:21480062-21480063	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539258680	chr7:21480063-21480064	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368486992	chr7:21480078-21480079	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183964031	chr7:21480092-21480093	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144598470	chr7:21480123-21480124	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541391387	chr7:21480193-21480194	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556201349	chr7:21480213-21480214	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561625190	chr7:21480220-21480221	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539910915	chr7:21480247-21480248	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs886498	chr7:21480284-21480285	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542561617	chr7:21480322-21480323	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188101396	chr7:21480335-21480336	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553619133	chr7:21480341-21480342	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576849875	chr7:21480364-21480365	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144109127	chr7:21480368-21480369	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs199961035	chr7:21480376-21480377	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs117064758	chr7:21480377-21480378	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181957181	chr7:21480422-21480423	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs79734414	chr7:21480430-21480431	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145989844	chr7:21480441-21480442	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567510031	chr7:21480454-21480455	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs140272246	chr7:21480487-21480488	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs62439709	chr7:21480489-21480490	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs2390532	chr7:21480490-21480491	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536255392	chr7:21480504-21480505	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376155260	chr7:21480505-21480506	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2390533	chr7:21480507-21480508	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570178545	chr7:21480551-21480552	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs185559935	chr7:21480568-21480569	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115737399	chr7:21480636-21480637	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572600154	chr7:21480688-21480689	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs74661617	chr7:21480709-21480710	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs140096324	chr7:21480735-21480736	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371213797	chr7:21480746-21480747	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21468400-21490600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:21468400-21497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:21468600-21488600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:21468600-21495600	Weak transcription	Fetal Intestine Large	intestine
5	chr7:21468800-21489000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:21468800-21493600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:21469000-21483800	Weak transcription	Adipose Nuclei	Adipose
8	chr7:21470000-21488600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:21470000-21490400	Weak transcription	Fetal Kidney	kidney
10	chr7:21470000-21497800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:21470200-21488600	Weak transcription	Gastric	stomach
12	chr7:21470200-21490600	Weak transcription	Psoas Muscle	Psoas
13	chr7:21470200-21494400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:21470400-21481000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:21470400-21488600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:21470400-21490600	Weak transcription	Pancreas	Pancrea
17	chr7:21470400-21494600	Weak transcription	Fetal Stomach	stomach
18	chr7:21470400-21516600	Weak transcription	Liver	Liver
19	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
20	chr7:21470600-21490800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr7:21471400-21480200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:21471600-21488400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:21471800-21484000	Weak transcription	HUVEC	blood vessel
24	chr7:21471800-21486600	Weak transcription	Aorta	Aorta
25	chr7:21472000-21483800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:21472000-21483800	Weak transcription	Fetal Lung	lung
27	chr7:21472000-21487200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:21472000-21488600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:21472000-21488800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:21472000-21489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:21472000-21495200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:21472000-21495200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:21472200-21482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:21472800-21488200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:21472800-21488400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:21472800-21488600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:21472800-21490400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:21472800-21490400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:21472800-21490600	Weak transcription	Left Ventricle	heart
40	chr7:21472800-21490600	Weak transcription	Lung	lung
41	chr7:21472800-21492000	Weak transcription	Small Intestine	intestine
42	chr7:21472800-21506000	Weak transcription	Right Ventricle	heart
43	chr7:21473200-21486600	Weak transcription	Ovary	ovary
44	chr7:21473200-21488400	Weak transcription	Dnd41	blood
45	chr7:21473400-21480400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:21473600-21489600	Weak transcription	Fetal Brain Male	brain
47	chr7:21474200-21493400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:21474400-21481400	Strong transcription	Primary B cells from cord blood	blood
49	chr7:21474800-21497200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:21474800-21520600	Weak transcription	Brain Angular Gyrus	brain

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