Variant report

Variant	esv3370833
Chromosome Location	chr7:105099016-105103214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105093737..105097449-chr7:105099816..105103606,4	K562	blood:
2	chr7:105095176..105096749-chr7:105098441..105100955,2	MCF-7	breast:
3	chr7:105103194..105105383-chr7:105105621..105108054,3	K562	blood:

Extended variants
information (count: 178 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:178 , 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	rs559897945	chr7:105099028-105099029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188888570	chr7:105099097-105099098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4389864	chr7:105099165-105099166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568395335	chr7:105099181-105099182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369647569	chr7:105099182-105099183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548755224	chr7:105099206-105099207	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545805444	chr7:105099221-105099222	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569698037	chr7:105099222-105099223	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs181637335	chr7:105099251-105099252	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs558328695	chr7:105099254-105099255	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs565881978	chr7:105099273-105099274	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs534780022	chr7:105099288-105099289	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs4308652	chr7:105099305-105099306	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114991285	chr7:105099355-105099356	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs528042157	chr7:105099365-105099366	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs371441572	chr7:105099383-105099384	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs4498466	chr7:105099406-105099407	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs543875796	chr7:105099439-105099440	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs557386207	chr7:105099443-105099444	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs577114265	chr7:105099509-105099510	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs370151780	chr7:105099567-105099568	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs377724134	chr7:105099574-105099575	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs371122857	chr7:105099580-105099581	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200561319	chr7:105099603-105099604	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs376431511	chr7:105099699-105099700	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs150330412	chr7:105099728-105099729	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs571474809	chr7:105099729-105099730	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs559567516	chr7:105099731-105099732	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370653295	chr7:105099760-105099761	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs377597917	chr7:105099786-105099787	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs528713980	chr7:105099824-105099825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551912573	chr7:105099886-105099887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76812015	chr7:105099900-105099901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77552450	chr7:105099902-105099903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184756394	chr7:105099945-105099946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562086095	chr7:105099953-105099954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530864551	chr7:105100014-105100015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550588069	chr7:105100046-105100047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531108604	chr7:105100136-105100137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550816361	chr7:105100151-105100152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569643221	chr7:105100153-105100154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531977928	chr7:105100230-105100231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552270415	chr7:105100237-105100238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546521301	chr7:105100276-105100277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565615784	chr7:105100281-105100282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144937857	chr7:105100282-105100283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189683641	chr7:105100288-105100289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181282332	chr7:105100293-105100294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74824946	chr7:105100294-105100295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538500873	chr7:105100307-105100308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105080000-105108400	Weak transcription	Spleen	Spleen
2	chr7:105080000-105161200	Weak transcription	Pancreas	Pancrea
3	chr7:105080200-105104600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:105080200-105126800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:105087200-105101400	Weak transcription	Left Ventricle	heart
6	chr7:105087200-105102000	Weak transcription	Aorta	Aorta
7	chr7:105088200-105142600	Weak transcription	Esophagus	oesophagus
8	chr7:105088200-105152800	Weak transcription	Gastric	stomach
9	chr7:105088400-105140400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:105089200-105127000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:105089200-105142600	Weak transcription	Fetal Thymus	thymus
12	chr7:105089600-105145200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:105089600-105145800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:105090000-105126800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr7:105090000-105128200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr7:105090800-105102000	Weak transcription	GM12878-XiMat	blood
17	chr7:105090800-105120200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:105092600-105102000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:105093200-105102000	Weak transcription	Primary T cells from cord blood	blood
20	chr7:105093200-105104400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:105093400-105112600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:105093600-105101400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:105093600-105153000	Weak transcription	Small Intestine	intestine
24	chr7:105093800-105102000	Weak transcription	Right Ventricle	heart
25	chr7:105094400-105101400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:105094400-105101600	Weak transcription	HUVEC	blood vessel
27	chr7:105094400-105113400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:105094400-105120200	Weak transcription	Lung	lung
29	chr7:105094600-105107000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:105094800-105100000	Weak transcription	Fetal Intestine Small	intestine
31	chr7:105094800-105137200	Weak transcription	Fetal Kidney	kidney
32	chr7:105095000-105128200	Weak transcription	Primary B cells from cord blood	blood
33	chr7:105095200-105099400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:105095200-105101400	Weak transcription	Fetal Lung	lung
35	chr7:105095200-105103600	Weak transcription	HepG2	liver
36	chr7:105095200-105113000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:105095200-105140600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:105095200-105142600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:105095600-105102000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:105095600-105128400	Weak transcription	Brain Angular Gyrus	brain
41	chr7:105095600-105128400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:105096000-105101600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:105096000-105102200	Weak transcription	NHEK	skin
44	chr7:105096000-105103400	Weak transcription	HSMMtube	muscle
45	chr7:105096000-105104400	Weak transcription	Osteobl	bone
46	chr7:105096000-105113000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:105096000-105119200	Weak transcription	Brain Anterior Caudate	brain
48	chr7:105096000-105126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:105096000-105127600	Weak transcription	NHLF	lung
50	chr7:105096000-105141000	Weak transcription	Colonic Mucosa	Colon

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