Variant report

Variant	rs55712145
Chromosome Location	chr3:142162142-142162143
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142154895..142157522-chr3:142161051..142162570,2	K562	blood:
2	chr3:142153615..142157522-chr3:142160803..142162570,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16852327	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4462984	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55720941	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55810370	0.83[AFR][1000 genomes]
rs56044159	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56791995	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58286086	1.00[AMR][1000 genomes]
rs58978582	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59954506	0.87[AMR][1000 genomes]
rs60153076	1.00[AMR][1000 genomes]
rs61076760	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61265290	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6440079	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6440080	1.00[AMR][1000 genomes]
rs6440081	0.87[AFR][1000 genomes]
rs6796807	1.00[AMR][1000 genomes]
rs6797767	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73864538	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73864539	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73864541	1.00[AMR][1000 genomes]
rs73867022	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73867024	1.00[AMR][1000 genomes]
rs73867035	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73867040	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73867041	1.00[AMR][1000 genomes]
rs7618139	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv522549	chr3:141812759-142164735	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv523945	chr3:141933649-142219542	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1000083	chr3:141956718-142172666	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv523596	chr3:142132749-142164735	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142138600-142164600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:142138800-142163000	Weak transcription	Spleen	Spleen
3	chr3:142139400-142163200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:142141600-142162400	Weak transcription	Brain Angular Gyrus	brain
5	chr3:142142200-142165400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:142146600-142164200	Weak transcription	Stomach Mucosa	stomach
7	chr3:142149000-142162600	Weak transcription	Brain Substantia Nigra	brain
8	chr3:142149800-142165000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:142150000-142162200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:142150000-142163200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:142150000-142164000	Weak transcription	NHDF-Ad	bronchial
12	chr3:142150000-142164400	Weak transcription	Aorta	Aorta
13	chr3:142150000-142164600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:142150200-142162200	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:142150200-142162600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:142150200-142163200	Weak transcription	Colonic Mucosa	Colon
17	chr3:142150200-142164000	Weak transcription	Fetal Brain Male	brain
18	chr3:142150200-142164400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:142150200-142164400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:142150200-142164600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:142150200-142164600	Weak transcription	HSMMtube	muscle
22	chr3:142150400-142163000	Weak transcription	Lung	lung
23	chr3:142150400-142163800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:142150400-142164000	Weak transcription	Primary T cells from cord blood	blood
25	chr3:142150400-142164400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr3:142150400-142164400	Weak transcription	HSMM	muscle
27	chr3:142150400-142164600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:142150400-142164600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr3:142150400-142164600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:142150600-142162600	Weak transcription	Ovary	ovary
31	chr3:142150600-142165400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:142151400-142162600	Weak transcription	Right Ventricle	heart
33	chr3:142151600-142162400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:142151600-142162800	Weak transcription	Adipose Nuclei	Adipose
35	chr3:142151600-142162800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:142151600-142163200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:142151600-142164400	Weak transcription	Osteobl	bone
38	chr3:142151600-142164600	Weak transcription	NH-A	brain
39	chr3:142151800-142162400	Weak transcription	Dnd41	blood
40	chr3:142151800-142162600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:142151800-142163200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:142151800-142163600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:142151800-142164600	Weak transcription	Fetal Lung	lung
44	chr3:142152000-142162400	Weak transcription	Hela-S3	cervix
45	chr3:142152000-142164000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr3:142152000-142164200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:142152200-142163800	Weak transcription	Primary B cells from cord blood	blood
48	chr3:142152200-142164400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr3:142152200-142164400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr3:142152200-142164400	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links