Variant report

Variant	rs7994127
Chromosome Location	chr13:79946828-79946829
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:79944448..79946891-chr13:79951431..79952941,2	MCF-7	breast:
2	chr13:79945909..79948690-chr13:79954494..79956111,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900586	chr13:79892722-79968467	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv900587	chr13:79894736-79956691	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	esv3330376	chr13:79945976-79948724	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3420791	chr13:79946451-79948499	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79886600-79950200	Weak transcription	Fetal Brain Male	brain
2	chr13:79888200-79947000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr13:79888400-79947000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr13:79891600-79947000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr13:79891600-79947000	Strong transcription	Dnd41	blood
6	chr13:79893200-79957800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:79894400-79950200	Weak transcription	Stomach Mucosa	stomach
8	chr13:79921200-79947000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr13:79922400-79947000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:79923000-79950600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:79924000-79947000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr13:79924400-79947000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr13:79925600-79947000	Strong transcription	Fetal Intestine Large	intestine
14	chr13:79926800-79947000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:79935400-79947000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:79936800-79948600	Weak transcription	Fetal Heart	heart
17	chr13:79938000-79947000	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr13:79938600-79947000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:79941200-79948000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr13:79941200-79950200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:79941200-79951000	Weak transcription	Aorta	Aorta
22	chr13:79941800-79956600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:79942000-79950200	Weak transcription	Small Intestine	intestine
24	chr13:79942000-79950400	Weak transcription	Gastric	stomach
25	chr13:79942000-79967400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:79942400-79948200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:79942400-79948200	Weak transcription	Right Ventricle	heart
28	chr13:79942400-79950600	Weak transcription	Pancreas	Pancrea
29	chr13:79943000-79957800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:79943200-79947000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:79943800-79948000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr13:79944400-79950400	Weak transcription	Spleen	Spleen
33	chr13:79944400-79951000	Weak transcription	Esophagus	oesophagus
34	chr13:79944800-79950200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:79944800-79950200	Weak transcription	Brain Angular Gyrus	brain
36	chr13:79945000-79949400	Weak transcription	Brain Hippocampus Middle	brain
37	chr13:79945200-79948200	Weak transcription	Fetal Brain Female	brain
38	chr13:79945200-79950400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr13:79945400-79948000	Weak transcription	K562	blood
40	chr13:79945400-79948200	Weak transcription	Fetal Stomach	stomach
41	chr13:79945400-79948200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr13:79945400-79949600	Weak transcription	Brain Germinal Matrix	brain
43	chr13:79945400-79950600	Weak transcription	Brain Substantia Nigra	brain
44	chr13:79945800-79948800	Weak transcription	Brain Anterior Caudate	brain
45	chr13:79946000-79948000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:79946000-79948000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr13:79946000-79948400	Weak transcription	Psoas Muscle	Psoas
48	chr13:79946000-79949400	Weak transcription	NH-A	brain
49	chr13:79946000-79949600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr13:79946000-79949600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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