Variant report

Variant	rs547848290
Chromosome Location	chr13:30912085-30912086
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	chr13:30905394..30908859-chr13:30911466..30914534,3	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530602	chr13:30911025-31404272	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv455853	chr13:30911531-30951514	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv561394	chr13:30911531-30951514	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30892800-30913400	Weak transcription	Psoas Muscle	Psoas
2	chr13:30903600-30914000	Weak transcription	Aorta	Aorta
3	chr13:30905800-30913600	Weak transcription	Fetal Stomach	stomach
4	chr13:30905800-30913600	Weak transcription	Right Atrium	heart
5	chr13:30905800-30913600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr13:30905800-30914000	Weak transcription	Fetal Lung	lung
7	chr13:30905800-30914000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr13:30906600-30913800	Weak transcription	Right Ventricle	heart
9	chr13:30907000-30913800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr13:30907400-30914000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr13:30908000-30914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:30909000-30919800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr13:30909200-30913600	Weak transcription	Adipose Nuclei	Adipose
14	chr13:30909400-30914000	Weak transcription	Brain Anterior Caudate	brain
15	chr13:30909600-30912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:30909600-30913800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr13:30909600-30914000	Weak transcription	Brain Angular Gyrus	brain
18	chr13:30909800-30913400	Weak transcription	Spleen	Spleen
19	chr13:30909800-30914000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr13:30909800-30914000	Weak transcription	Brain Hippocampus Middle	brain
21	chr13:30909800-30919000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:30909800-30919400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr13:30910000-30912400	Weak transcription	Pancreas	Pancrea
24	chr13:30910000-30919000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr13:30910000-30920600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr13:30910600-30916400	Enhancers	Hela-S3	cervix
27	chr13:30910800-30919200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr13:30911000-30912200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:30911000-30913800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr13:30911000-30914400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr13:30911000-30914800	Enhancers	K562	blood
32	chr13:30911000-30917400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr13:30911000-30919000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr13:30911200-30919600	Weak transcription	Primary B cells from cord blood	blood
35	chr13:30911400-30917600	Enhancers	Colon Smooth Muscle	Colon
36	chr13:30911600-30912800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr13:30911600-30912800	Weak transcription	Thymus	Thymus
38	chr13:30911600-30913600	Weak transcription	Fetal Thymus	thymus
39	chr13:30911600-30914000	Weak transcription	Liver	Liver
40	chr13:30911600-30917400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:30911800-30912200	Weak transcription	Fetal Muscle Leg	muscle
42	chr13:30911800-30914200	Weak transcription	Dnd41	blood
43	chr13:30911800-30915200	Enhancers	Rectal Smooth Muscle	rectum
44	chr13:30912000-30912200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:30912000-30914000	Enhancers	NHDF-Ad	bronchial
46	chr13:30912000-30914200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:30912000-30914200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:30912000-30914600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:30912000-30914600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr13:30912000-30914600	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links