Variant report

Variant	rs7546155
Chromosome Location	chr1:78115343-78115344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17100817	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17100819	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34351666	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34974859	1.00[EUR][1000 genomes]
rs41313399	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6603957	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6659285	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6662245	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677011	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6678173	0.93[EUR][1000 genomes]
rs6701361	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7525538	1.00[EUR][1000 genomes]
rs7532455	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7546605	0.97[EUR][1000 genomes]
rs7550587	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7555421	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7555864	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9659817	0.94[AMR][1000 genomes]

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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic 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 target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' 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
6	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78098400-78116800	Weak transcription	Right Ventricle	heart
2	chr1:78099000-78147200	Weak transcription	Gastric	stomach
3	chr1:78099200-78120800	Weak transcription	Small Intestine	intestine
4	chr1:78099200-78132400	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:78099600-78116800	Weak transcription	Aorta	Aorta
6	chr1:78100800-78115800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:78100800-78116600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:78100800-78133200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:78105200-78117000	Weak transcription	HSMMtube	muscle
10	chr1:78105200-78131800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:78105400-78120600	Weak transcription	NH-A	brain
12	chr1:78105800-78122400	Weak transcription	HMEC	breast
13	chr1:78107600-78146000	Weak transcription	Fetal Kidney	kidney
14	chr1:78110400-78138000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:78111200-78116600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:78111200-78116600	Weak transcription	NHEK	skin
17	chr1:78111200-78116800	Weak transcription	Ovary	ovary
18	chr1:78111200-78116800	Weak transcription	Osteobl	bone
19	chr1:78111200-78117200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:78111200-78117800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:78111200-78120200	Weak transcription	Placenta	Placenta
22	chr1:78111200-78125600	Weak transcription	HSMM	muscle
23	chr1:78111200-78147200	Weak transcription	Esophagus	oesophagus
24	chr1:78111400-78116600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:78111400-78116600	Weak transcription	HepG2	liver
26	chr1:78111400-78116800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:78111400-78116800	Weak transcription	NHDF-Ad	bronchial
28	chr1:78111400-78117000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:78111400-78118400	Weak transcription	NHLF	lung
30	chr1:78111400-78118600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:78111400-78120600	Weak transcription	Lung	lung
32	chr1:78111400-78123200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:78111400-78125400	Weak transcription	Left Ventricle	heart
34	chr1:78111400-78127200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:78111400-78128000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:78111400-78130800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:78111400-78137400	Weak transcription	HUVEC	blood vessel
38	chr1:78111400-78137600	Weak transcription	Hela-S3	cervix
39	chr1:78111600-78116600	Weak transcription	Thymus	Thymus
40	chr1:78112000-78116600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:78112000-78118400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:78112200-78139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:78112400-78118000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:78112800-78115600	Weak transcription	Dnd41	blood
45	chr1:78112800-78118800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:78113000-78115600	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr1:78113400-78117000	ZNF genes & repeats	Fetal Lung	lung
48	chr1:78113600-78117200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
49	chr1:78113600-78117400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr1:78114000-78115600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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