Variant report

Variant	rs148397008
Chromosome Location	chr1:184858785-184858786
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv947555	chr1:184857808-184861749	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184816800-184874200	Weak transcription	Esophagus	oesophagus
2	chr1:184831400-184874200	Weak transcription	Lung	lung
3	chr1:184837200-184859800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:184837200-184869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:184838000-184859200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:184843000-184866800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:184844200-184874200	Weak transcription	Adipose Nuclei	Adipose
8	chr1:184851600-184859600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:184852000-184874200	Weak transcription	Spleen	Spleen
10	chr1:184852600-184859000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:184852600-184859600	Weak transcription	Gastric	stomach
12	chr1:184852800-184875800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:184853400-184859000	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:184853800-184859800	Weak transcription	GM12878-XiMat	blood
15	chr1:184854000-184868600	Weak transcription	Fetal Stomach	stomach
16	chr1:184854200-184861200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:184854800-184859000	Weak transcription	Aorta	Aorta
18	chr1:184855000-184859600	Weak transcription	Primary T cells from cord blood	blood
19	chr1:184855400-184860000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:184855400-184860000	Enhancers	NHDF-Ad	bronchial
21	chr1:184855600-184859200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:184855600-184868800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:184855600-184869200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:184855800-184860000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:184855800-184868600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:184856000-184859000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:184856200-184859200	Enhancers	NHEK	skin
28	chr1:184856600-184859200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:184856600-184859400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:184856600-184860000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:184857000-184858800	Enhancers	Colon Smooth Muscle	Colon
32	chr1:184857000-184859200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:184857000-184859400	Enhancers	NH-A	brain
34	chr1:184857000-184860200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:184857000-184860400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:184857200-184859200	Enhancers	Fetal Heart	heart
37	chr1:184857200-184860400	Enhancers	HMEC	breast
38	chr1:184857200-184875000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:184857400-184859000	Weak transcription	Left Ventricle	heart
40	chr1:184857400-184859000	Weak transcription	Pancreas	Pancrea
41	chr1:184857400-184859000	Weak transcription	Psoas Muscle	Psoas
42	chr1:184857400-184859400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:184857400-184860600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:184857400-184860800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr1:184857400-184861400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr1:184857400-184861400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr1:184857600-184859400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr1:184857600-184859600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:184857800-184858800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:184857800-184859200	Weak transcription	NHLF	lung

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