Variant report

Variant	esv3448952
Chromosome Location	chr7:100856780-100857019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:100856953-100857067	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr7:100856629-100857522	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100847669..100852607-chr7:100855025..100859313,4	MCF-7	breast:
2	chr7:100853413..100857189-chr7:100859048..100862216,5	K562	blood:
3	chr7:100852895..100855541-chr7:100856233..100859274,3	MCF-7	breast:
4	chr7:100846805..100850556-chr7:100852421..100856995,5	K562	blood:
5	chr7:100850699..100858131-chr7:100858977..100863722,10	K562	blood:
6	chr7:100853184..100857478-chr7:100859517..100863375,8	MCF-7	breast:
7	chr7:100807035..100811166-chr7:100854328..100856818,4	MCF-7	breast:
8	chr7:100820974..100823753-chr7:100856302..100857950,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLOD3	TF binding region
ZNHIT1	TF binding region
ENSG00000128564	chromatin interactions
ENSG00000106397	chromatin interactions
ENSG00000106400	chromatin interactions
ENSG00000213394	chromatin interactions
ENSG00000205267	chromatin interactions
ENSG00000167011	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375060630	chr7:100856787-100856788	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs369461469	chr7:100856788-100856789	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs528819695	chr7:100856796-100856797	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs577414649	chr7:100856797-100856798	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs5886171	chr7:100856800-100856801	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs397842199	chr7:100856802-100856803	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs11525848	chr7:100856859-100856860	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559832568	chr7:100856867-100856868	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs529623403	chr7:100856877-100856878	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs533028950	chr7:100856885-100856886	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs115779102	chr7:100856909-100856910	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs570475314	chr7:100856952-100856953	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs551300227	chr7:100856979-100856980	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs552040187	chr7:100856984-100856985	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs398087996	chr7:100856990-100856991	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs917112	chr7:100856991-100856992	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:93)

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
Gastric cancer	24379144	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
Prostate cancer	16461572	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
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19214233	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100844600-100856800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:100844600-100859000	Weak transcription	Hela-S3	cervix
3	chr7:100845800-100859600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:100846600-100858200	Weak transcription	NHDF-Ad	bronchial
5	chr7:100847000-100858000	Weak transcription	HepG2	liver
6	chr7:100847000-100858200	Weak transcription	GM12878-XiMat	blood
7	chr7:100847000-100859400	Weak transcription	HSMM	muscle
8	chr7:100847000-100859800	Weak transcription	Primary B cells from cord blood	blood
9	chr7:100847000-100859800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:100847600-100859400	Weak transcription	Stomach Mucosa	stomach
11	chr7:100847800-100858200	Weak transcription	K562	blood
12	chr7:100847800-100859600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:100847800-100859800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:100848000-100858200	Weak transcription	NH-A	brain
15	chr7:100848200-100859400	Strong transcription	Fetal Intestine Small	intestine
16	chr7:100848600-100859400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:100848800-100856800	Strong transcription	Fetal Brain Female	brain
18	chr7:100848800-100859400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:100848800-100859400	Strong transcription	Fetal Stomach	stomach
20	chr7:100849000-100857000	Strong transcription	Right Ventricle	heart
21	chr7:100849000-100858000	Strong transcription	Fetal Muscle Leg	muscle
22	chr7:100849000-100858000	Strong transcription	Ovary	ovary
23	chr7:100849000-100858200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:100849000-100858200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:100849000-100858400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:100849000-100859400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:100849200-100856800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr7:100849200-100857000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:100849200-100857200	Strong transcription	Liver	Liver
30	chr7:100849200-100857800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:100849200-100858200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:100849200-100858200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr7:100849200-100858400	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr7:100849200-100859000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr7:100849200-100859000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:100849200-100859000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:100849200-100859000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr7:100849200-100859200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:100849200-100859200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:100849200-100859200	Strong transcription	Spleen	Spleen
41	chr7:100849200-100859400	Strong transcription	Adipose Nuclei	Adipose
42	chr7:100849200-100859400	Strong transcription	Brain Hippocampus Middle	brain
43	chr7:100849200-100859400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:100849400-100857000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr7:100849400-100857200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:100849400-100857200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr7:100849400-100857600	Strong transcription	Pancreas	Pancrea
48	chr7:100849400-100858200	Strong transcription	Brain Cingulate Gyrus	brain
49	chr7:100849400-100858400	Strong transcription	Left Ventricle	heart
50	chr7:100849400-100858600	Strong transcription	Brain Anterior Caudate	brain

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