Variant report

Variant	rs79150350
Chromosome Location	chr1:181014498-181014499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:181004788..181008643-chr1:181010792..181015908,7	K562	blood:
2	chr1:181010770..181016050-chr1:181055138..181060794,9	MCF-7	breast:
3	chr1:181013434..181015271-chr1:181059973..181061827,2	MCF-7	breast:
4	chr1:181011084..181016329-chr1:181056547..181060434,6	K562	blood:
5	chr1:181013057..181015311-chr1:181085662..181087249,2	MCF-7	breast:
6	chr1:180999745..181016101-chr1:181055432..181063450,33	K562	blood:
7	chr1:181013036..181016290-chr1:181056443..181059535,5	MCF-7	breast:
8	chr1:181007094..181009350-chr1:181012392..181014502,3	MCF-7	breast:
9	chr1:181003253..181008679-chr1:181011469..181014538,5	MCF-7	breast:
10	chr1:181012572..181014580-chr1:181108514..181110085,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162783	Chromatin interaction
ENSG00000272198	Chromatin interaction

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	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3383831	chr1:180937224-181029755	Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1011081	chr1:180973159-181135953	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
5	esv993520	chr1:181014194-181028191	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:181004000-181015600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:181004000-181025400	Weak transcription	Fetal Stomach	stomach
3	chr1:181004000-181025800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:181004000-181026200	Weak transcription	Brain Anterior Caudate	brain
5	chr1:181005600-181025800	Weak transcription	Right Ventricle	heart
6	chr1:181005600-181026000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:181005600-181026400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:181005600-181028200	Weak transcription	Gastric	stomach
9	chr1:181005600-181028600	Weak transcription	Ovary	ovary
10	chr1:181007200-181026600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:181008600-181020800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:181008600-181031400	Weak transcription	NHLF	lung
13	chr1:181008800-181022800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:181009600-181014600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:181010800-181024600	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:181011000-181018400	Weak transcription	HSMM	muscle
17	chr1:181011000-181025600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:181011000-181031400	Weak transcription	Osteobl	bone
19	chr1:181011200-181019200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:181011200-181024600	Weak transcription	Aorta	Aorta
21	chr1:181011800-181015000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:181012000-181014600	Enhancers	Primary T cells from cord blood	blood
23	chr1:181012000-181014800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:181012200-181014600	Enhancers	Fetal Thymus	thymus
25	chr1:181012200-181014800	Enhancers	Esophagus	oesophagus
26	chr1:181012400-181016200	Strong transcription	Spleen	Spleen
27	chr1:181012600-181020200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:181012600-181024400	Weak transcription	Adipose Nuclei	Adipose
29	chr1:181012800-181016400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:181012800-181016600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr1:181012800-181028400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:181013000-181015000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:181013000-181015800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:181013000-181020800	Weak transcription	Small Intestine	intestine
35	chr1:181013400-181014600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:181013400-181014600	Flanking Active TSS	NHEK	skin
37	chr1:181013600-181014600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:181013600-181014800	Enhancers	Lung	lung
39	chr1:181013600-181018800	Weak transcription	Primary B cells from cord blood	blood
40	chr1:181013800-181014600	Enhancers	HepG2	liver
41	chr1:181013800-181015800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:181013800-181019200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:181013800-181026400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:181013800-181027400	Weak transcription	Colonic Mucosa	Colon
45	chr1:181013800-181031000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:181014000-181014600	Enhancers	GM12878-XiMat	blood
47	chr1:181014000-181015000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:181014000-181015200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:181014000-181015800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:181014000-181015800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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