Variant report

Variant	rs4548416
Chromosome Location	chr1:165813006-165813007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165812134..165815476-chr1:165816977..165818639,3	K562	blood:
2	chr1:165740929..165742597-chr1:165810397..165813179,2	K562	blood:
3	chr1:165734875..165737199-chr1:165810836..165813345,2	K562	blood:
4	chr1:165654373..165656083-chr1:165811609..165814179,2	K562	blood:
5	chr1:165798053..165799867-chr1:165811993..165814835,2	MCF-7	breast:
6	chr1:165810645..165813480-chr1:165823292..165825548,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10737519	0.96[ASN][1000 genomes]
rs10753694	0.93[ASN][1000 genomes]
rs10800162	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs10918291	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10918294	0.88[ASN][1000 genomes]
rs11590711	0.95[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs12041574	0.87[CHB][hapmap]
rs1934275	0.93[ASN][1000 genomes]
rs2185268	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs34800847	0.97[ASN][1000 genomes]
rs4483381	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4535982	1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4657481	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs6426941	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6677965	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678380	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682894	0.94[ASN][1000 genomes]
rs6684773	1.00[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs6686237	0.88[ASN][1000 genomes]
rs6690966	0.93[ASN][1000 genomes]
rs6702462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[ASN][1000 genomes]
rs7517175	1.00[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7539793	0.92[ASN][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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
3	nsv548097	chr1:165797966-165825166	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165798800-165814200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:165799000-165818200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:165799200-165815800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:165808200-165814200	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:165810600-165813200	Enhancers	Psoas Muscle	Psoas
6	chr1:165810600-165813400	Enhancers	Stomach Mucosa	stomach
7	chr1:165810800-165813200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:165810800-165813600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:165810800-165814000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:165810800-165814000	Enhancers	Small Intestine	intestine
11	chr1:165810800-165814400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:165810800-165817000	Enhancers	Fetal Thymus	thymus
13	chr1:165811000-165814000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:165811200-165817000	Enhancers	Thymus	Thymus
15	chr1:165812000-165814200	Weak transcription	Fetal Brain Female	brain
16	chr1:165812000-165816600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:165812200-165813200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:165812200-165813200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:165812200-165813400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:165812200-165813800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:165812200-165813800	Weak transcription	Esophagus	oesophagus
22	chr1:165812200-165820200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:165812200-165820200	Weak transcription	Spleen	Spleen
24	chr1:165812200-165823200	Weak transcription	Aorta	Aorta
25	chr1:165812200-165823200	Weak transcription	Fetal Stomach	stomach
26	chr1:165812200-165823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:165812400-165813200	Enhancers	HSMM	muscle
28	chr1:165812400-165813400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:165812400-165813400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:165812400-165813600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:165812400-165814400	Enhancers	Dnd41	blood
32	chr1:165812400-165815000	Weak transcription	HepG2	liver
33	chr1:165812400-165815600	Enhancers	K562	blood
34	chr1:165812400-165818400	Weak transcription	Right Atrium	heart
35	chr1:165812400-165820200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:165812400-165820200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:165812400-165820200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:165812400-165820200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:165812400-165820200	Weak transcription	HSMMtube	muscle
40	chr1:165812400-165820400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:165812400-165820400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:165812400-165821800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:165812400-165822200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:165812400-165823200	Weak transcription	Left Ventricle	heart
45	chr1:165812400-165823200	Weak transcription	Right Ventricle	heart
46	chr1:165812400-165823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:165812600-165813600	Weak transcription	Brain Anterior Caudate	brain
48	chr1:165812600-165814400	Enhancers	A549	lung
49	chr1:165812600-165820200	Weak transcription	Fetal Intestine Small	intestine
50	chr1:165812600-165820400	Weak transcription	Fetal Heart	heart

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