Variant report

Variant	esv3401805
Chromosome Location	chr7:99484666-99487814
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	chr7:99485783..99488764-chr7:99489956..99491818,2	K562	blood:

Extended variants
information (count: 153 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571849273	chr7:99484677-99484678	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539288263	chr7:99484695-99484696	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548061469	chr7:99484726-99484727	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566204725	chr7:99484732-99484733	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555439068	chr7:99484778-99484779	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554634931	chr7:99484794-99484795	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140416348	chr7:99484813-99484814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537130818	chr7:99484867-99484868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573758812	chr7:99484881-99484882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374965044	chr7:99484923-99484924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369121384	chr7:99484924-99484925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139924630	chr7:99484929-99484930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368999166	chr7:99484934-99484935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61313383	chr7:99484948-99484949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576276746	chr7:99484949-99484950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558653154	chr7:99484980-99484981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376227344	chr7:99484990-99484991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10245581	chr7:99485000-99485001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569547974	chr7:99485170-99485171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544915326	chr7:99485186-99485187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370947225	chr7:99485210-99485211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538115062	chr7:99485243-99485244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190545033	chr7:99485246-99485247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182248036	chr7:99485247-99485248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144564269	chr7:99485263-99485264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187465161	chr7:99485359-99485360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549900523	chr7:99485383-99485384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569144077	chr7:99485385-99485386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190669926	chr7:99485389-99485390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547631484	chr7:99485393-99485394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368216652	chr7:99485409-99485410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200294867	chr7:99485414-99485415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566281543	chr7:99485427-99485428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536507714	chr7:99485434-99485435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370717598	chr7:99485436-99485437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548895789	chr7:99485448-99485449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62474463	chr7:99485473-99485474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569691363	chr7:99485485-99485486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537093922	chr7:99485520-99485521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10452953	chr7:99485544-99485545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372966106	chr7:99485565-99485566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13310576	chr7:99485566-99485567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576884383	chr7:99485584-99485585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570866815	chr7:99485587-99485588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13310625	chr7:99485588-99485589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367931497	chr7:99485605-99485606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184781459	chr7:99485617-99485618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371798323	chr7:99485636-99485637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375750835	chr7:99485641-99485642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13310775	chr7:99485659-99485660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	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
Gastric cancer	24379144	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
Prostate cancer	16461572	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
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99458200-99489600	Weak transcription	Pancreas	Pancrea
2	chr7:99468400-99487200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:99470000-99489600	Weak transcription	Gastric	stomach
4	chr7:99470400-99486800	Weak transcription	Primary T cells from cord blood	blood
5	chr7:99470400-99487000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:99471400-99487000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:99472400-99487200	Weak transcription	Brain Anterior Caudate	brain
8	chr7:99472400-99487400	Weak transcription	Aorta	Aorta
9	chr7:99472600-99487000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:99472600-99487200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:99472600-99487600	Weak transcription	Lung	lung
12	chr7:99472600-99488800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:99473000-99487200	Weak transcription	Brain Substantia Nigra	brain
14	chr7:99473200-99487200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:99474600-99487000	Weak transcription	Adipose Nuclei	Adipose
16	chr7:99474800-99487000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:99476000-99487000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:99478200-99487000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:99479200-99488800	Weak transcription	Thymus	Thymus
20	chr7:99479800-99499200	Weak transcription	Small Intestine	intestine
21	chr7:99480400-99487800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:99480800-99487200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:99482600-99487400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:99483000-99487200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr7:99484000-99487000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:99484000-99487200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:99484200-99487000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:99484600-99484800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:99484600-99487200	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:99484600-99487200	Weak transcription	Spleen	Spleen
31	chr7:99484800-99487000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:99484800-99487000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:99484800-99487000	Weak transcription	Placenta	Placenta
34	chr7:99484800-99487200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:99484800-99487200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:99485000-99486800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr7:99485000-99487000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:99485000-99487400	Weak transcription	Brain Angular Gyrus	brain
39	chr7:99485200-99487000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:99485200-99487200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:99485200-99499000	Weak transcription	Psoas Muscle	Psoas
42	chr7:99485400-99487000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:99485400-99487000	Weak transcription	Right Ventricle	heart
44	chr7:99485400-99487000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:99485400-99487200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:99485400-99487200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:99485400-99487600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:99485400-99487800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:99485400-99489000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:99485600-99487200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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