Variant report

Variant	esv16312
Chromosome Location	chr7:104928324-104931171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104930219..104933081-chr7:104934544..104936219,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538614334	chr7:104928357-104928358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552149858	chr7:104928388-104928389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78612818	chr7:104928448-104928449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138271319	chr7:104928507-104928508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534867565	chr7:104928525-104928526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561977756	chr7:104928595-104928596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554422871	chr7:104928675-104928676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574686491	chr7:104928694-104928695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149603177	chr7:104928703-104928704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191787295	chr7:104928786-104928787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576855512	chr7:104928791-104928792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144501835	chr7:104928795-104928796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117731671	chr7:104928824-104928825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529459756	chr7:104928825-104928826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182550907	chr7:104928844-104928845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188020273	chr7:104928858-104928859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531251943	chr7:104928862-104928863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192350739	chr7:104928868-104928869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7811681	chr7:104928869-104928870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs532188041	chr7:104928872-104928873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370444248	chr7:104928909-104928910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs137918839	chr7:104928973-104928974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112891834	chr7:104929002-104929003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142374690	chr7:104929012-104929013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6980310	chr7:104929015-104929016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368225266	chr7:104929020-104929021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560033812	chr7:104929053-104929054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372366010	chr7:104929061-104929062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6466055	chr7:104929064-104929065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
30	rs556872276	chr7:104929121-104929122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576722332	chr7:104929199-104929200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145933436	chr7:104929209-104929210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553050210	chr7:104929210-104929211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573301631	chr7:104929214-104929215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189533959	chr7:104929216-104929217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562188298	chr7:104929248-104929249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575941074	chr7:104929265-104929266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6466056	chr7:104929267-104929268	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs139990264	chr7:104929305-104929306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147025558	chr7:104929340-104929341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533622289	chr7:104929350-104929351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58306520	chr7:104929358-104929359	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs142214768	chr7:104929417-104929418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528213453	chr7:104929419-104929420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192105559	chr7:104929421-104929422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373852719	chr7:104929441-104929442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550217497	chr7:104929442-104929443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368708100	chr7:104929488-104929489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567801070	chr7:104929519-104929520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536891434	chr7:104929539-104929540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Myxofibrosarcoma	20639860	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104910200-104935000	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:104910800-104929000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:104910800-104934400	Weak transcription	Primary T cells from cord blood	blood
4	chr7:104910800-104946000	Weak transcription	Primary B cells from cord blood	blood
5	chr7:104911400-104934800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:104912000-104929800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:104912200-104939200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:104913200-104936200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:104917200-104944600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:104918200-104939000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:104919200-104939000	Weak transcription	Pancreas	Pancrea
12	chr7:104919800-104939000	Weak transcription	Thymus	Thymus
13	chr7:104919800-104939200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:104920000-104929400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr7:104920400-104939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:104920600-104937200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:104920600-104959600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:104923200-104944200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:104924800-104939000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:104924800-104939200	Weak transcription	Left Ventricle	heart
21	chr7:104925000-104936200	Weak transcription	HepG2	liver
22	chr7:104925000-104944200	Weak transcription	A549	lung
23	chr7:104926200-104934200	Weak transcription	K562	blood
24	chr7:104926400-104929200	Weak transcription	Fetal Thymus	thymus
25	chr7:104926400-104944600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:104926600-104930000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:104926800-104929200	Weak transcription	Dnd41	blood
28	chr7:104926800-104930200	Weak transcription	Brain Angular Gyrus	brain
29	chr7:104927000-104929200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:104927200-104929200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:104927200-104930000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:104927200-104934400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:104927400-104930000	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:104927400-104930200	Weak transcription	Brain Substantia Nigra	brain
35	chr7:104929000-104929200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr7:104929000-104939200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:104929200-104929400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr7:104929200-104929600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:104929200-104929600	Enhancers	Fetal Thymus	thymus
40	chr7:104929200-104931800	Enhancers	Dnd41	blood
41	chr7:104929400-104930000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr7:104929400-104930200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr7:104929400-104944600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:104929600-104930400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr7:104929600-104938800	Weak transcription	Fetal Thymus	thymus
46	chr7:104929800-104930400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:104929800-104930800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr7:104929800-104944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:104930000-104930200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:104930000-104930400	Enhancers	Brain Inferior Temporal Lobe	brain

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