Variant report

Variant	esv3365173
Chromosome Location	chr7:105245254-105245435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:105245255-105245527	HepG2	liver:	n/a	n/a
2	ZNF384	chr7:105245405-105245605	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105244303..105247119-chr7:105251493..105253646,2	K562	blood:
2	chr7:105244203..105246113-chr7:105248513..105250700,2	MCF-7	breast:

Variant related genes	Relation type
EFCAB10	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148852852	chr7:105245271-105245272	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs186180104	chr7:105245284-105245285	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs576868393	chr7:105245301-105245302	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs566341591	chr7:105245303-105245304	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs190162254	chr7:105245305-105245306	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs552918110	chr7:105245327-105245328	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs572521427	chr7:105245428-105245429	Weak transcription Strong transcription Enhancers	TF binding region	1 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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105222200-105253000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:105237600-105247200	Weak transcription	Fetal Brain Female	brain
3	chr7:105237600-105251000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:105237800-105246600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:105237800-105250800	Weak transcription	Brain Anterior Caudate	brain
6	chr7:105238000-105252600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:105239400-105289000	Weak transcription	Right Atrium	heart
8	chr7:105240400-105284400	Weak transcription	HSMMtube	muscle
9	chr7:105240600-105247000	Weak transcription	Brain Germinal Matrix	brain
10	chr7:105241200-105247200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:105241800-105251200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:105241800-105252800	Weak transcription	Placenta	Placenta
13	chr7:105241800-105253200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:105241800-105253400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:105242000-105247000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:105242000-105247000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:105242000-105247400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:105242000-105252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:105242000-105253800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:105242000-105254200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:105242200-105246800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:105242200-105247000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:105242200-105251200	Weak transcription	Esophagus	oesophagus
24	chr7:105242200-105254000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:105242200-105263400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:105242200-105273800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:105242400-105247000	Weak transcription	Fetal Intestine Small	intestine
28	chr7:105242400-105247200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:105242400-105247600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:105242400-105252600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr7:105242400-105254600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:105242600-105246800	Weak transcription	Primary T cells from cord blood	blood
33	chr7:105242800-105253200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:105243000-105246800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:105243000-105252800	Weak transcription	Spleen	Spleen
36	chr7:105243200-105247000	Weak transcription	Fetal Stomach	stomach
37	chr7:105243200-105247200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:105243200-105247400	Weak transcription	Lung	lung
39	chr7:105243200-105253800	Weak transcription	Adipose Nuclei	Adipose
40	chr7:105243200-105253800	Weak transcription	Fetal Lung	lung
41	chr7:105243200-105253800	Weak transcription	NHLF	lung
42	chr7:105243200-105280200	Weak transcription	Stomach Mucosa	stomach
43	chr7:105243400-105247000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:105243400-105251000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:105243400-105252400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:105243400-105252800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:105243400-105253000	Weak transcription	Liver	Liver
48	chr7:105243400-105289200	Weak transcription	NHDF-Ad	bronchial
49	chr7:105243600-105246800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr7:105243600-105247800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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