Variant report

Variant	nsv524191
Chromosome Location	chr7:105386461-105390559
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	chr7:105292608..105293444-chr7:105386023..105387129,5	MCF-7	breast:
2	chr7:105377810..105380833-chr7:105386333..105389611,3	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587741	chr7:105386461-105386462	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12536717	chr7:105386465-105386466	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs528198992	chr7:105386508-105386509	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546344171	chr7:105386509-105386510	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150104552	chr7:105386518-105386519	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559392526	chr7:105386545-105386546	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184346719	chr7:105386548-105386549	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189273078	chr7:105386595-105386596	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541699253	chr7:105386609-105386610	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562190202	chr7:105386621-105386622	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529218740	chr7:105386631-105386632	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532345842	chr7:105386632-105386633	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116081168	chr7:105386713-105386714	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180880131	chr7:105386737-105386738	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375582828	chr7:105386764-105386765	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547266377	chr7:105386770-105386771	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138465235	chr7:105386796-105386797	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536027433	chr7:105386815-105386816	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148968526	chr7:105386876-105386877	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571244066	chr7:105386927-105386928	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530830878	chr7:105386957-105386958	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569132885	chr7:105387015-105387016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550518392	chr7:105387056-105387057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145795121	chr7:105387115-105387116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369076999	chr7:105387150-105387151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138448223	chr7:105387158-105387159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538233613	chr7:105387202-105387203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576383151	chr7:105387205-105387206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545528777	chr7:105387216-105387217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372812997	chr7:105387280-105387281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373287275	chr7:105387353-105387354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553223111	chr7:105387385-105387386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573089938	chr7:105387387-105387388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186125886	chr7:105387416-105387417	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189430033	chr7:105387426-105387427	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143047182	chr7:105387467-105387468	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114435639	chr7:105387481-105387482	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564616012	chr7:105387482-105387483	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533352154	chr7:105387508-105387509	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34537428	chr7:105387527-105387528	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146161701	chr7:105387542-105387543	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560820320	chr7:105387543-105387544	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376070390	chr7:105387553-105387554	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148291897	chr7:105387565-105387566	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568800540	chr7:105387574-105387575	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371084906	chr7:105387588-105387589	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181481075	chr7:105387593-105387594	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569071392	chr7:105387594-105387595	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73717269	chr7:105387615-105387616	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187132806	chr7:105387649-105387650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105352600-105388600	Weak transcription	Aorta	Aorta
2	chr7:105352800-105392400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:105354400-105390000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr7:105354400-105399800	Weak transcription	Ovary	ovary
5	chr7:105354600-105392000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:105354800-105387600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:105355000-105401000	Weak transcription	NHEK	skin
8	chr7:105359800-105406200	Weak transcription	Gastric	stomach
9	chr7:105359800-105438600	Weak transcription	Pancreas	Pancrea
10	chr7:105360000-105391400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:105360600-105388200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:105360800-105406200	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:105361200-105394400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:105364400-105402000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:105364600-105390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:105364600-105393000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:105364600-105416400	Weak transcription	Brain Angular Gyrus	brain
18	chr7:105366600-105390200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:105367200-105428800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:105367400-105391600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:105374400-105390400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:105375000-105386800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:105375600-105400200	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:105375600-105400400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:105378400-105391800	Weak transcription	Fetal Intestine Large	intestine
26	chr7:105379400-105416200	Weak transcription	Left Ventricle	heart
27	chr7:105381600-105399000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:105382400-105388800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:105382400-105388800	Weak transcription	Fetal Intestine Small	intestine
30	chr7:105382600-105410400	Weak transcription	Right Atrium	heart
31	chr7:105382800-105393200	Weak transcription	Brain Substantia Nigra	brain
32	chr7:105383000-105388800	Weak transcription	Primary T cells from cord blood	blood
33	chr7:105383000-105398800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:105383400-105400200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:105384000-105388800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:105384000-105399800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:105384200-105389000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:105384200-105389200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:105384200-105389800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:105384200-105393400	Weak transcription	Lung	lung
41	chr7:105384400-105388800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:105384400-105390200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:105384400-105398400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:105384400-105399000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr7:105384600-105386600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:105384600-105390800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:105384600-105391200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:105384600-105393600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:105384600-105438600	Weak transcription	Spleen	Spleen
50	chr7:105384800-105388800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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