Variant report

Variant	nsv819773
Chromosome Location	chr7:104741979-104742295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104738367..104742450-chr7:104745588..104750008,6	MCF-7	breast:
2	chr7:104742223..104744250-chr7:104770729..104772974,2	K562	blood:
3	chr7:104653228..104656123-chr7:104741244..104743296,2	K562	blood:
4	chr7:104740053..104743335-chr7:104744660..104749506,6	K562	blood:

Variant related genes	Relation type
ENSG00000005483	chromatin interactions
ENSG00000272918	chromatin interactions
ENSG00000239569	chromatin interactions
ENSG00000228393	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540893678	chr7:104741990-104741991	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs202000671	chr7:104742044-104742045	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs11976329	chr7:104742054-104742055	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs377251242	chr7:104742059-104742060	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs142450104	chr7:104742111-104742112	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs150214752	chr7:104742133-104742134	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs570172703	chr7:104742136-104742137	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs532482922	chr7:104742145-104742146	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs181856770	chr7:104742146-104742147	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs76426333	chr7:104742199-104742200	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs535353136	chr7:104742211-104742212	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs567679302	chr7:104742231-104742232	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs201361658	chr7:104742283-104742284	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	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
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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104678000-104812200	Strong transcription	Dnd41	blood
3	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr7:104702200-104747800	Weak transcription	Stomach Mucosa	stomach
8	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:104703600-104759000	Strong transcription	Fetal Intestine Large	intestine
10	chr7:104704000-104745200	Weak transcription	Psoas Muscle	Psoas
11	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:104709600-104744400	Weak transcription	Right Ventricle	heart
13	chr7:104712400-104758800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:104718200-104750600	Weak transcription	Fetal Brain Male	brain
15	chr7:104720600-104746200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:104721400-104744600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:104721600-104744800	Weak transcription	Spleen	Spleen
18	chr7:104721600-104749400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:104722200-104759400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:104724000-104743200	Weak transcription	Brain Angular Gyrus	brain
21	chr7:104724200-104744400	Weak transcription	Aorta	Aorta
22	chr7:104724200-104748000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:104724800-104743200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:104724800-104744000	Weak transcription	Small Intestine	intestine
25	chr7:104726400-104744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:104726800-104743800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:104726800-104744800	Weak transcription	Gastric	stomach
28	chr7:104726800-104747800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:104727800-104758200	Strong transcription	Fetal Thymus	thymus
30	chr7:104727800-104759200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:104727800-104759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:104727800-104760400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:104728000-104760200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr7:104728200-104758400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:104728200-104758400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr7:104728400-104756800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:104728400-104758400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:104728400-104758400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:104728600-104756000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr7:104729600-104744800	Weak transcription	NHEK	skin
41	chr7:104732800-104743200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:104732800-104744000	Weak transcription	Pancreas	Pancrea
43	chr7:104732800-104744600	Weak transcription	Ovary	ovary
44	chr7:104733600-104743000	Weak transcription	Colonic Mucosa	Colon
45	chr7:104733600-104743600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:104733600-104744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:104733600-104744600	Weak transcription	Thymus	Thymus
48	chr7:104733800-104742400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:104733800-104743400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:104733800-104743800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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