Variant report

Variant	esv3372747
Chromosome Location	chr7:105211235-105211484
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	CEBPB	chr7:105211344-105211514	K562	blood:	n/a	n/a
2	CEBPB	chr7:105211427-105211454	IMR90	lung:	n/a	n/a
3	CTCF	chr7:105211340-105211395	Fibrobl	skin:	n/a	n/a
4	CTCF	chr7:105211200-105211253	GM10248	blood:	n/a	n/a
5	POLR2A	chr7:105211395-105211432	ProgFib	skin:	n/a	n/a
6	POLR2A	chr7:105211266-105211464	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105171919..105174630-chr7:105210042..105212382,2	K562	blood:
2	chr7:105171171..105172915-chr7:105209648..105211277,2	K562	blood:

Variant related genes	Relation type
ENSG00000272604	TF binding region
ENSG00000135249	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 79 )

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	rs113397616	chr7:105211238-105211239	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs555226171	chr7:105211242-105211243	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs111705675	chr7:105211255-105211256	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543967567	chr7:105211270-105211271	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs146767805	chr7:105211298-105211299	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs79507349	chr7:105211340-105211341	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544692379	chr7:105211341-105211342	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564682719	chr7:105211380-105211381	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs145272432	chr7:105211428-105211429	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs540687627	chr7:105211429-105211430	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs184027601	chr7:105211458-105211459	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs62487001	chr7:105211464-105211465	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530191297	chr7:105211475-105211476	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549908102	chr7:105211484-105211485	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105174000-105212200	Weak transcription	Fetal Heart	heart
2	chr7:105174200-105213800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:105174600-105213200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:105188000-105214200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:105193200-105221400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:105193200-105221600	Weak transcription	Aorta	Aorta
7	chr7:105196000-105221600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:105196200-105212200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:105199400-105221600	Weak transcription	Pancreas	Pancrea
10	chr7:105201000-105217600	Weak transcription	HSMMtube	muscle
11	chr7:105201000-105221600	Weak transcription	Colonic Mucosa	Colon
12	chr7:105202000-105221600	Weak transcription	Esophagus	oesophagus
13	chr7:105205200-105212600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:105205400-105221400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:105205600-105221600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:105206200-105221600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:105206200-105221600	Weak transcription	HUVEC	blood vessel
18	chr7:105206400-105212600	Weak transcription	Fetal Brain Male	brain
19	chr7:105206400-105218200	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:105206400-105221400	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:105206400-105221600	Weak transcription	Fetal Kidney	kidney
22	chr7:105206600-105218200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:105207000-105221400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:105207000-105221400	Weak transcription	Fetal Brain Female	brain
25	chr7:105207000-105221800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:105208200-105221600	Weak transcription	HepG2	liver
27	chr7:105208400-105212000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:105208400-105214400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:105208400-105221400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:105208400-105221600	Weak transcription	NHDF-Ad	bronchial
31	chr7:105208600-105211600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:105208600-105211600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:105208600-105212400	Weak transcription	Spleen	Spleen
34	chr7:105208600-105213000	Weak transcription	Placenta	Placenta
35	chr7:105208600-105213400	Weak transcription	HMEC	breast
36	chr7:105208600-105214000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:105208600-105217600	Weak transcription	Fetal Lung	lung
38	chr7:105208600-105218800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:105208600-105219600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:105208600-105221200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:105208600-105221400	Weak transcription	Brain Germinal Matrix	brain
42	chr7:105208600-105221400	Weak transcription	NH-A	brain
43	chr7:105208600-105221600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:105208600-105221600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr7:105208600-105221600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:105208600-105221600	Weak transcription	Right Ventricle	heart
47	chr7:105208800-105215200	Weak transcription	Hela-S3	cervix
48	chr7:105208800-105216400	Weak transcription	Ovary	ovary
49	chr7:105208800-105220600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:105209000-105211600	Weak transcription	Primary T cells from cord blood	blood

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