Variant report

Variant	rs547623417
Chromosome Location	chr1:225999904-225999905
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225998808..226002827-chr1:226008223..226011228,3	MCF-7	breast:
2	chr1:225975459..225978007-chr1:225998232..226000787,2	K562	blood:
3	chr1:225999613..226001373-chr1:226068706..226071488,3	MCF-7	breast:
4	chr1:225962862..225967352-chr1:225996084..226002774,11	MCF-7	breast:
5	chr1:225998663..226000298-chr1:226028489..226031143,2	MCF-7	breast:
6	chr1:225969259..225971858-chr1:225998628..226000469,2	K562	blood:
7	chr1:225998339..226001333-chr1:226013491..226015022,2	K562	blood:
8	chr1:225962294..225967531-chr1:225994011..226002080,11	K562	blood:
9	chr1:225963904..225970275-chr1:225994893..226001084,15	K562	blood:
10	chr1:225993353..225995844-chr1:225998707..226001448,2	K562	blood:
11	chr1:225963814..225970754-chr1:225996230..226002908,14	MCF-7	breast:
12	chr1:225999526..226002981-chr1:226005681..226008708,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143742	Chromatin interaction
ENSG00000196187	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	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription 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	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv947519	chr1:225998770-226034631	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225997400-226000000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:225998400-226000000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:225998400-226001000	Enhancers	K562	blood
4	chr1:225998400-226001600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr1:225998400-226007800	Enhancers	Spleen	Spleen
6	chr1:225998600-226000000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr1:225998600-226000200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:225998600-226000200	Flanking Active TSS	Liver	Liver
9	chr1:225998600-226000200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:225998600-226000400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr1:225998600-226005600	Enhancers	Stomach Mucosa	stomach
12	chr1:225998800-226000000	Flanking Active TSS	Fetal Lung	lung
13	chr1:225998800-226000000	Flanking Active TSS	A549	lung
14	chr1:225998800-226000400	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr1:225998800-226000400	Weak transcription	Small Intestine	intestine
16	chr1:225998800-226001800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:225999000-226000000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:225999000-226000000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:225999000-226000200	Flanking Active TSS	HepG2	liver
20	chr1:225999000-226000400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:225999000-226000600	Enhancers	Fetal Brain Male	brain
22	chr1:225999000-226001200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:225999000-226002800	Enhancers	Placenta	Placenta
24	chr1:225999200-226000000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:225999200-226000000	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr1:225999200-226000200	Enhancers	Gastric	stomach
27	chr1:225999200-226000600	Weak transcription	Fetal Heart	heart
28	chr1:225999200-226000800	Genic enhancers	Fetal Stomach	stomach
29	chr1:225999200-226001000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:225999200-226001000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:225999200-226001000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:225999200-226001000	Weak transcription	Aorta	Aorta
33	chr1:225999200-226001000	Weak transcription	HSMM	muscle
34	chr1:225999200-226001200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:225999200-226001200	Weak transcription	Primary B cells from cord blood	blood
36	chr1:225999200-226001200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:225999200-226001200	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:225999200-226001200	Weak transcription	HUVEC	blood vessel
39	chr1:225999200-226001200	Weak transcription	NH-A	brain
40	chr1:225999200-226001400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:225999200-226001400	Weak transcription	NHEK	skin
42	chr1:225999200-226001600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:225999200-226001800	Enhancers	Fetal Kidney	kidney
44	chr1:225999200-226001800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:225999200-226002400	Enhancers	Esophagus	oesophagus
46	chr1:225999200-226002400	Enhancers	Fetal Intestine Large	intestine
47	chr1:225999200-226004800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:225999200-226006400	Enhancers	Lung	lung
49	chr1:225999200-226006600	Enhancers	Psoas Muscle	Psoas
50	chr1:225999400-226000000	Enhancers	HUES6 Cell Line	embryonic stem cell

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