Variant report

Variant	esv3403054
Chromosome Location	chr7:106928966-106930114
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	chr7:106923986..106926392-chr7:106929216..106932117,2	K562	blood:
2	chr7:106928239..106930553-chr7:106930960..106933126,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 81 )

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	rs537959489	chr7:106928967-106928968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561662027	chr7:106929002-106929003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563631603	chr7:106929008-106929009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139588875	chr7:106929150-106929151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542755259	chr7:106929169-106929170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370272141	chr7:106929192-106929193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113320363	chr7:106929204-106929205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184206886	chr7:106929244-106929245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144318679	chr7:106929283-106929284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546424103	chr7:106929301-106929302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186991476	chr7:106929354-106929355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6967638	chr7:106929356-106929357	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs6967639	chr7:106929360-106929361	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs60313728	chr7:106929387-106929388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183725748	chr7:106929423-106929424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561136088	chr7:106929436-106929437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80234443	chr7:106929469-106929470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535139518	chr7:106929502-106929503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140346496	chr7:106929559-106929560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201137783	chr7:106929636-106929637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569593901	chr7:106929644-106929645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538397627	chr7:106929672-106929673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558394803	chr7:106929692-106929693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528426066	chr7:106929700-106929701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534299529	chr7:106929712-106929713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114840256	chr7:106929808-106929809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190500510	chr7:106929822-106929823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542631558	chr7:106929826-106929827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561599371	chr7:106929828-106929829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74435279	chr7:106929835-106929836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546605462	chr7:106929904-106929905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561391600	chr7:106929907-106929908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182479790	chr7:106930014-106930015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549510428	chr7:106930020-106930021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563936309	chr7:106930022-106930023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533008054	chr7:106930039-106930040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546659699	chr7:106930061-106930062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564915685	chr7:106930107-106930108	Weak transcription Strong transcription	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
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106851000-106946000	Weak transcription	Esophagus	oesophagus
2	chr7:106874000-106929200	Weak transcription	NH-A	brain
3	chr7:106874000-106945600	Weak transcription	Pancreas	Pancrea
4	chr7:106886400-106971400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:106886800-106946000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:106887000-106935800	Weak transcription	Small Intestine	intestine
7	chr7:106888600-106930800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:106888600-106931600	Weak transcription	Dnd41	blood
9	chr7:106888800-106930800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:106888800-106932000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:106888800-106933400	Weak transcription	Fetal Stomach	stomach
12	chr7:106888800-106946000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:106888800-106946200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:106888800-106999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:106889000-106933400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:106889000-106934400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:106890800-106945600	Weak transcription	Aorta	Aorta
18	chr7:106891000-106931000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:106899200-106933600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:106904800-106959800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:106907000-106933600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:106908200-106933600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:106908600-106933000	Weak transcription	Liver	Liver
24	chr7:106909000-106932200	Weak transcription	NHEK	skin
25	chr7:106909000-106968600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:106910200-106946400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:106911000-106930400	Weak transcription	Fetal Intestine Large	intestine
28	chr7:106911000-106932000	Weak transcription	K562	blood
29	chr7:106911000-106933600	Weak transcription	Lung	lung
30	chr7:106911000-106964200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:106911800-106946000	Weak transcription	Fetal Intestine Small	intestine
32	chr7:106912400-106934200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:106915200-106953400	Weak transcription	Left Ventricle	heart
34	chr7:106915800-106931000	Weak transcription	Primary T cells from cord blood	blood
35	chr7:106918000-106936000	Weak transcription	HSMMtube	muscle
36	chr7:106918000-106939000	Weak transcription	GM12878-XiMat	blood
37	chr7:106918600-106963800	Weak transcription	HSMM	muscle
38	chr7:106921200-106936400	Weak transcription	HUVEC	blood vessel
39	chr7:106921400-106946000	Weak transcription	Fetal Thymus	thymus
40	chr7:106922200-106930400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:106922200-106934200	Weak transcription	Brain Angular Gyrus	brain
42	chr7:106923000-106933600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:106923000-106933800	Weak transcription	Spleen	Spleen
44	chr7:106923000-106965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:106923200-106935200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:106923400-106930600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:106923600-106930600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:106923600-106930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:106923600-106933400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:106923800-106929600	Weak transcription	Primary B cells from peripheral blood	blood

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