Variant report

Variant	rs548542365
Chromosome Location	chr1:101404344-101404345
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522064	chr1:101181342-101539866	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1012496	chr1:101295719-101466511	Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv535033	chr1:101295719-101466511	Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1001142	chr1:101399403-101783520	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535034	chr1:101399403-101783520	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv946098	chr1:101403971-101415950	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:101362400-101406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:101362400-101414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:101362600-101406800	Weak transcription	Gastric	stomach
4	chr1:101362600-101414800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:101362600-101414800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:101363000-101489600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:101363200-101406600	Weak transcription	Right Ventricle	heart
8	chr1:101363200-101406800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:101363200-101416400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:101372200-101414800	Weak transcription	Esophagus	oesophagus
11	chr1:101372600-101406800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:101373800-101406600	Weak transcription	Aorta	Aorta
13	chr1:101373800-101407600	Weak transcription	Small Intestine	intestine
14	chr1:101378200-101414600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:101378400-101407200	Weak transcription	Ovary	ovary
16	chr1:101378800-101406800	Weak transcription	Fetal Stomach	stomach
17	chr1:101379400-101416400	Weak transcription	Brain Angular Gyrus	brain
18	chr1:101379800-101414600	Weak transcription	Colonic Mucosa	Colon
19	chr1:101381600-101428800	Weak transcription	Fetal Brain Female	brain
20	chr1:101381600-101431200	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:101382400-101407400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:101382400-101431600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:101383000-101434200	Weak transcription	Fetal Brain Male	brain
24	chr1:101383200-101414800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:101383400-101407000	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:101385000-101414200	Weak transcription	Stomach Mucosa	stomach
27	chr1:101387400-101409000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:101387800-101405800	Weak transcription	A549	lung
29	chr1:101389400-101406400	Weak transcription	Fetal Intestine Small	intestine
30	chr1:101389600-101418000	Weak transcription	HMEC	breast
31	chr1:101390200-101407200	Weak transcription	Brain Substantia Nigra	brain
32	chr1:101392000-101414600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:101392000-101416400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:101392200-101406800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:101392200-101431200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:101392400-101406400	Weak transcription	Brain Germinal Matrix	brain
37	chr1:101392600-101406600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:101392600-101414600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:101392600-101463800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:101393200-101406400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:101393200-101407200	Weak transcription	HepG2	liver
42	chr1:101393200-101415400	Weak transcription	NHLF	lung
43	chr1:101393200-101430000	Weak transcription	Hela-S3	cervix
44	chr1:101394000-101406400	Weak transcription	Thymus	Thymus
45	chr1:101394000-101406600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:101394000-101420000	Weak transcription	NHDF-Ad	bronchial
47	chr1:101396600-101409200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:101396600-101409200	Strong transcription	Dnd41	blood
49	chr1:101397600-101406000	Weak transcription	NHEK	skin
50	chr1:101397600-101406400	Weak transcription	Fetal Lung	lung

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