Variant report

Variant	esv3366564
Chromosome Location	chr7:6635258-6635673
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	POLR2A	chr7:6635583-6635627	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6630176..6632392-chr7:6634480..6637119,2	K562	blood:
2	chr7:6632840..6635452-chr7:6636875..6640304,4	K562	blood:
3	chr7:6630383..6633367-chr7:6634117..6636987,2	K562	blood:
4	chr7:6632840..6635572-chr7:6638804..6641530,2	K562	blood:
5	chr7:6629361..6631109-chr7:6633004..6635792,5	MCF-7	breast:

Variant related genes	Relation type
C7orf26	TF binding region
ENSG00000146576	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140841430	chr7:6635260-6635261	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34178244	chr7:6635266-6635267	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs74334682	chr7:6635286-6635287	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144740870	chr7:6635350-6635351	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191367385	chr7:6635352-6635353	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs57676132	chr7:6635368-6635369	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564294493	chr7:6635387-6635388	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553505384	chr7:6635396-6635397	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576170882	chr7:6635409-6635410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146758927	chr7:6635451-6635452	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377596277	chr7:6635489-6635490	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561677594	chr7:6635544-6635545	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528879343	chr7:6635556-6635557	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188514070	chr7:6635562-6635563	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7795522	chr7:6635573-6635574	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs80332875	chr7:6635589-6635590	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs551533074	chr7:6635595-6635596	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs35946698	chr7:6635629-6635630	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6630600-6641800	Weak transcription	NHDF-Ad	bronchial
2	chr7:6630800-6636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:6630800-6639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:6630800-6641600	Weak transcription	K562	blood
5	chr7:6631000-6646200	Strong transcription	Brain Anterior Caudate	brain
6	chr7:6631000-6646800	Strong transcription	Fetal Intestine Large	intestine
7	chr7:6631200-6635800	Strong transcription	GM12878-XiMat	blood
8	chr7:6631200-6636800	Weak transcription	Fetal Heart	heart
9	chr7:6631200-6642600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:6631200-6644200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:6631200-6644600	Strong transcription	Fetal Lung	lung
12	chr7:6631200-6648200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:6631200-6648400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:6631200-6648400	Strong transcription	Placenta	Placenta
15	chr7:6631200-6648600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:6631200-6649200	Strong transcription	Fetal Muscle Leg	muscle
17	chr7:6631200-6649200	Strong transcription	Fetal Thymus	thymus
18	chr7:6631200-6649400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:6631200-6649400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:6631200-6649400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:6631200-6649400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr7:6631400-6635800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:6631400-6638200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:6631400-6640000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:6631400-6640200	Strong transcription	Brain Substantia Nigra	brain
26	chr7:6631400-6641800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:6631400-6641800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr7:6631400-6642400	Strong transcription	Left Ventricle	heart
29	chr7:6631400-6642800	Strong transcription	Brain Hippocampus Middle	brain
30	chr7:6631400-6644600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:6631400-6647600	Weak transcription	Stomach Mucosa	stomach
32	chr7:6631400-6648400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:6631400-6649000	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr7:6631400-6649400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:6631400-6649400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:6631400-6649600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:6631400-6649600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr7:6631400-6649800	Strong transcription	Fetal Intestine Small	intestine
39	chr7:6631400-6649800	Strong transcription	Fetal Stomach	stomach
40	chr7:6631600-6636600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:6631600-6640800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:6631600-6642000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:6631600-6645000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:6631600-6647200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr7:6631600-6648400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr7:6631600-6648800	Strong transcription	Lung	lung
47	chr7:6631600-6649400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:6631600-6649400	Strong transcription	Liver	Liver
49	chr7:6631600-6650800	Strong transcription	Thymus	Thymus
50	chr7:6631800-6648800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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