Variant report

Variant	nsv823995
Chromosome Location	chr7:5232621-5233294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:3071236..3074140-chr7:5230121..5232796,2	MCF-7	breast:
2	chr7:5232342..5242315-chr7:5249039..5255391,10	K562	blood:
3	chr7:5231544..5233195-chr7:5257262..5260176,2	MCF-7	breast:
4	chr7:5229632..5232075-chr7:5232992..5235509,2	MCF-7	breast:
5	chr7:5229879..5231449-chr7:5231595..5233756,2	K562	blood:
6	chr7:5233147..5235826-chr7:5241564..5244275,2	K562	blood:
7	chr7:5231668..5234490-chr7:5251463..5254091,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131652	chromatin interactions
ENSG00000103145	chromatin interactions
ENSG00000157954	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527745161	chr7:5232625-5232626	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs189171187	chr7:5232635-5232636	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs570975220	chr7:5232661-5232662	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs367598229	chr7:5232689-5232690	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs370316581	chr7:5232713-5232714	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs370155032	chr7:5232731-5232732	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs541051080	chr7:5232735-5232736	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs373330064	chr7:5232740-5232741	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs376677941	chr7:5232747-5232748	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs371661316	chr7:5232750-5232751	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs568808411	chr7:5232755-5232756	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs368752507	chr7:5232764-5232765	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs146496665	chr7:5232786-5232787	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs200762936	chr7:5232787-5232788	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs200241348	chr7:5232789-5232790	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs138840107	chr7:5232790-5232791	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs139158009	chr7:5232809-5232810	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs199838818	chr7:5232813-5232814	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558477274	chr7:5232864-5232865	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576929297	chr7:5232867-5232868	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547877745	chr7:5232877-5232878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6463314	chr7:5232881-5232882	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150987056	chr7:5232893-5232894	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182420985	chr7:5232945-5232946	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540379097	chr7:5233003-5233004	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185413172	chr7:5233007-5233008	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560084924	chr7:5233022-5233023	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143538503	chr7:5233024-5233025	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561874712	chr7:5233025-5233026	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545850550	chr7:5233070-5233071	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111806699	chr7:5233108-5233109	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531931205	chr7:5233139-5233140	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550237194	chr7:5233159-5233160	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527623107	chr7:5233169-5233170	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568724377	chr7:5233180-5233181	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529578657	chr7:5233181-5233182	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548232142	chr7:5233197-5233198	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs55784412	chr7:5233269-5233270	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21525872	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5230600-5233200	Weak transcription	Aorta	Aorta
2	chr7:5231000-5233000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:5231200-5232800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:5231200-5233000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:5231200-5233000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr7:5231200-5233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:5231200-5239400	Weak transcription	A549	lung
8	chr7:5231200-5240200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:5231200-5249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:5231200-5254200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:5231400-5233000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:5231400-5233000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr7:5231400-5233000	Weak transcription	Stomach Mucosa	stomach
14	chr7:5231400-5233200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:5231400-5233200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:5231400-5233200	Weak transcription	Esophagus	oesophagus
17	chr7:5231400-5247000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr7:5231400-5253800	Weak transcription	Fetal Kidney	kidney
19	chr7:5231400-5279800	Weak transcription	Fetal Brain Male	brain
20	chr7:5231600-5232800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:5231600-5232800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:5231600-5233000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:5231600-5233000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:5231600-5233000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:5231600-5233000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:5231600-5233000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:5231600-5233000	Weak transcription	Fetal Intestine Large	intestine
28	chr7:5231600-5233000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:5231600-5233000	Weak transcription	Spleen	Spleen
30	chr7:5231600-5233000	Weak transcription	NHEK	skin
31	chr7:5231600-5233200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:5231600-5233200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:5231600-5233200	Weak transcription	Fetal Stomach	stomach
34	chr7:5231600-5233200	Weak transcription	Left Ventricle	heart
35	chr7:5231600-5233200	Weak transcription	Lung	lung
36	chr7:5231600-5233200	Weak transcription	Ovary	ovary
37	chr7:5231600-5233400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:5231600-5233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:5231600-5233600	Weak transcription	Pancreas	Pancrea
40	chr7:5231600-5236000	Weak transcription	Fetal Heart	heart
41	chr7:5231600-5238400	Weak transcription	K562	blood
42	chr7:5231600-5239200	Weak transcription	Colonic Mucosa	Colon
43	chr7:5231600-5239400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:5231600-5239800	Weak transcription	Fetal Brain Female	brain
45	chr7:5231600-5240000	Weak transcription	Psoas Muscle	Psoas
46	chr7:5231600-5252600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:5231800-5233000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:5231800-5233000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:5231800-5233000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:5231800-5233000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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