Variant report

Variant	rs7546481
Chromosome Location	chr1:226918736-226918737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226914118..226916048-chr1:226918162..226920157,2	K562	blood:
2	chr1:226891053..226891553-chr1:226918292..226918793,2	Hela-S3	cervix:
3	chr1:226918577..226920487-chr1:226923925..226925523,2	K562	blood:

Variant related genes	Relation type
ENSG00000143772	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs59332746	1.00[AMR][1000 genomes]
rs74141842	1.00[AMR][1000 genomes]
rs7542073	1.00[AMR][1000 genomes]

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	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
2	chr1:226893400-226918800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:226909600-226919000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:226909800-226918800	Genic enhancers	Fetal Thymus	thymus
5	chr1:226909800-226919000	Genic enhancers	Primary B cells from cord blood	blood
6	chr1:226909800-226924200	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr1:226910000-226925000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
8	chr1:226910200-226922400	Weak transcription	Fetal Brain Male	brain
9	chr1:226910800-226920400	Weak transcription	Colonic Mucosa	Colon
10	chr1:226912000-226919000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:226912000-226920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:226912000-226920600	Weak transcription	NHEK	skin
13	chr1:226912000-226923200	Weak transcription	NH-A	brain
14	chr1:226912200-226919000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:226912200-226921800	Weak transcription	NHDF-Ad	bronchial
16	chr1:226912200-226922000	Weak transcription	HMEC	breast
17	chr1:226912200-226923600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:226912400-226920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:226912400-226920600	Weak transcription	NHLF	lung
20	chr1:226912400-226924600	Weak transcription	Ovary	ovary
21	chr1:226912600-226919000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:226912600-226920400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:226912600-226920400	Weak transcription	Fetal Intestine Large	intestine
24	chr1:226912600-226920600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:226912800-226921000	Weak transcription	HUVEC	blood vessel
26	chr1:226912800-226921800	Weak transcription	Placenta	Placenta
27	chr1:226912800-226925400	Weak transcription	Stomach Mucosa	stomach
28	chr1:226913000-226919200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:226913000-226919200	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
30	chr1:226913200-226920600	Weak transcription	Fetal Kidney	kidney
31	chr1:226913400-226920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:226913600-226920400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:226913600-226923000	Weak transcription	Gastric	stomach
34	chr1:226914200-226920800	Weak transcription	Right Ventricle	heart
35	chr1:226915000-226925000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
36	chr1:226915600-226920400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:226915600-226920400	Weak transcription	Small Intestine	intestine
38	chr1:226916000-226919400	Strong transcription	Fetal Muscle Leg	muscle
39	chr1:226916000-226920600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:226916400-226920200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr1:226916400-226920400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:226916400-226920600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:226916600-226919000	Enhancers	Brain Substantia Nigra	brain
44	chr1:226916600-226919800	Weak transcription	Fetal Intestine Small	intestine
45	chr1:226916600-226920000	Weak transcription	Lung	lung
46	chr1:226916600-226920400	Weak transcription	Fetal Lung	lung
47	chr1:226916600-226920600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:226916600-226920600	Weak transcription	Liver	Liver
49	chr1:226916600-226920600	Weak transcription	Esophagus	oesophagus
50	chr1:226916600-226920800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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