Variant report

Variant	esv3413417
Chromosome Location	chr7:105533756-105534068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105528969..105534140-chr7:105534279..105538473,8	MCF-7	breast:
2	chr7:105533117..105535181-chr7:105536193..105537994,2	K562	blood:
3	chr7:105529246..105532232-chr7:105533599..105537801,4	K562	blood:
4	chr7:105516995..105519157-chr7:105532768..105536422,4	MCF-7	breast:
5	chr7:105529710..105531248-chr7:105533599..105536485,2	K562	blood:

Variant related genes	Relation type
ENSG00000146776	chromatin interactions
ENSG00000128536	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187047946	chr7:105533810-105533811	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs573659186	chr7:105533831-105533832	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs531637771	chr7:105533833-105533834	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs192360130	chr7:105533844-105533845	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs369507989	chr7:105533850-105533851	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs557287259	chr7:105533851-105533852	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs76307172	chr7:105533916-105533917	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs371960814	chr7:105533948-105533949	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs532060017	chr7:105533949-105533950	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs528580165	chr7:105533951-105533952	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs138390997	chr7:105533964-105533965	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs377337644	chr7:105534012-105534013	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs60168905	chr7:105534025-105534026	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149263874	chr7:105534052-105534053	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Medulloblastoma	16783165	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105518400-105562800	Weak transcription	Aorta	Aorta
2	chr7:105518800-105548200	Weak transcription	Right Atrium	heart
3	chr7:105519000-105542600	Weak transcription	A549	lung
4	chr7:105519800-105550600	Weak transcription	NHLF	lung
5	chr7:105520000-105535400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:105520000-105545600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:105520000-105549600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:105520000-105549600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:105520200-105550400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:105522000-105537200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:105522400-105537200	Weak transcription	Gastric	stomach
12	chr7:105522400-105549600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:105524400-105536000	Weak transcription	HepG2	liver
14	chr7:105525800-105542400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:105526000-105541600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:105526200-105536200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:105526200-105537200	Weak transcription	Fetal Brain Female	brain
18	chr7:105526200-105537200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:105526200-105537400	Weak transcription	Fetal Lung	lung
20	chr7:105526400-105547200	Weak transcription	Adipose Nuclei	Adipose
21	chr7:105527800-105547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:105527800-105547000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:105528200-105537200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:105528200-105537200	Weak transcription	Stomach Mucosa	stomach
25	chr7:105528400-105537200	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:105528600-105534400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:105528600-105535600	Weak transcription	Pancreas	Pancrea
28	chr7:105528600-105537200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:105528600-105541000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:105528600-105541800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:105529200-105535400	Weak transcription	Ovary	ovary
32	chr7:105530800-105536400	Strong transcription	NHDF-Ad	bronchial
33	chr7:105531400-105533800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:105531400-105533800	Weak transcription	HMEC	breast
35	chr7:105531400-105534800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:105531400-105535000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:105531400-105535000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr7:105531400-105535600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:105531400-105536400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:105531400-105536400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:105531400-105536800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:105531400-105537000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:105531400-105542400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:105531600-105534600	Weak transcription	NHEK	skin
45	chr7:105531600-105536200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:105531600-105536400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr7:105531600-105538800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:105531800-105536200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:105531800-105537200	Weak transcription	Liver	Liver
50	chr7:105532600-105546800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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