Variant report

Variant	esv3450055
Chromosome Location	chr7:7626066-7626762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7619317..7621118-chr7:7624412..7627303,2	K562	blood:
2	chr7:7615235..7617225-chr7:7623771..7626180,2	K562	blood:
3	chr7:7625483..7627076-chr7:7645095..7647606,2	K562	blood:
4	chr7:7603637..7606616-chr7:7625950..7628086,2	K562	blood:
5	chr7:7605958..7609334-chr7:7621457..7626452,6	MCF-7	breast:
6	chr7:7623184..7625246-chr7:7625953..7628454,2	K562	blood:
7	chr7:7604893..7608929-chr7:7624940..7630674,5	K562	blood:
8	chr7:7606536..7608427-chr7:7626434..7628641,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272894	chromatin interactions
ENSG00000164654	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80135082	chr7:7626095-7626096	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs375991162	chr7:7626113-7626114	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs370039282	chr7:7626132-7626133	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs548080874	chr7:7626142-7626143	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565554590	chr7:7626200-7626201	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539453326	chr7:7626212-7626213	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546098791	chr7:7626241-7626242	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs9690845	chr7:7626333-7626334	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191322348	chr7:7626354-7626355	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534146191	chr7:7626371-7626372	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112944249	chr7:7626378-7626379	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183022919	chr7:7626443-7626444	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573476354	chr7:7626453-7626454	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs553624273	chr7:7626507-7626508	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs149337585	chr7:7626508-7626509	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs551968259	chr7:7626513-7626514	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs553269644	chr7:7626596-7626597	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs71988879	chr7:7626620-7626621	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs577835837	chr7:7626631-7626632	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs61450074	chr7:7626634-7626635	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs4376421	chr7:7626637-7626638	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs188507644	chr7:7626661-7626662	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs9690858	chr7:7626680-7626681	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139608725	chr7:7626728-7626729	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs377538709	chr7:7626762-7626763	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7607200-7648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:7607400-7646400	Weak transcription	Esophagus	oesophagus
3	chr7:7607400-7648200	Weak transcription	Lung	lung
4	chr7:7607600-7646400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:7607600-7648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:7608200-7648800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:7608400-7630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:7608400-7648600	Weak transcription	NH-A	brain
9	chr7:7608800-7635800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:7609400-7639400	Weak transcription	Fetal Heart	heart
11	chr7:7609400-7640800	Weak transcription	Stomach Mucosa	stomach
12	chr7:7609400-7645600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:7609400-7648400	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:7609400-7649000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:7609600-7629000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:7609600-7630400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:7609600-7634600	Weak transcription	HepG2	liver
18	chr7:7609600-7641000	Weak transcription	Spleen	Spleen
19	chr7:7609600-7642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:7609600-7649000	Weak transcription	Right Ventricle	heart
21	chr7:7609600-7650400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:7609600-7651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:7609600-7652600	Weak transcription	Fetal Brain Male	brain
24	chr7:7609800-7635800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:7609800-7648000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:7609800-7648800	Weak transcription	Brain Germinal Matrix	brain
27	chr7:7610000-7632200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:7610400-7640800	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:7610600-7629200	Weak transcription	Brain Angular Gyrus	brain
30	chr7:7610600-7639400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:7610600-7648200	Weak transcription	Pancreas	Pancrea
32	chr7:7610600-7654400	Weak transcription	Gastric	stomach
33	chr7:7610800-7634400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:7611200-7652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:7612600-7629200	Weak transcription	Placenta	Placenta
36	chr7:7612800-7634400	Weak transcription	A549	lung
37	chr7:7612800-7635600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:7613000-7636000	Weak transcription	Left Ventricle	heart
39	chr7:7613000-7646400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:7613200-7632000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:7613200-7634600	Weak transcription	Dnd41	blood
42	chr7:7613200-7634800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr7:7613200-7635800	Weak transcription	Ovary	ovary
44	chr7:7613200-7637600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:7613200-7637800	Weak transcription	NHDF-Ad	bronchial
46	chr7:7613200-7638600	Weak transcription	Fetal Kidney	kidney
47	chr7:7613200-7639400	Weak transcription	Fetal Brain Female	brain
48	chr7:7613200-7639800	Weak transcription	HSMMtube	muscle
49	chr7:7613400-7629200	Weak transcription	Fetal Lung	lung
50	chr7:7613400-7629400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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