Variant report

Variant	rs4606
Chromosome Location	chr1:192781172-192781173
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10801151	0.95[EUR][1000 genomes]
rs10801152	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10801153	0.93[EUR][1000 genomes]
rs10801154	0.93[EUR][1000 genomes]
rs10801155	0.82[ASN][1000 genomes]
rs10801156	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10801157	0.90[EUR][1000 genomes]
rs10801158	0.90[EUR][1000 genomes]
rs10921266	0.85[AFR][1000 genomes]
rs10921267	0.93[EUR][1000 genomes]
rs10921268	0.95[EUR][1000 genomes]
rs11586572	0.93[EUR][1000 genomes]
rs12565835	0.94[EUR][1000 genomes]
rs1418718	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16834851	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1819741	0.98[EUR][1000 genomes]
rs1890398	0.80[ASN][1000 genomes]
rs1890399	0.82[ASN][1000 genomes]
rs2746071	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2746072	0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2746073	0.98[EUR][1000 genomes]
rs6428136	0.93[EUR][1000 genomes]
rs6669632	0.96[EUR][1000 genomes]
rs6684156	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6703040	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7525778	0.93[EUR][1000 genomes]
rs7534336	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7546861	0.93[EUR][1000 genomes]
rs7549721	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192776400-192781200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:192777000-192781200	ZNF genes & repeats	Fetal Brain Male	brain
3	chr1:192778000-192781200	Active TSS	Right Atrium	heart
4	chr1:192778200-192781200	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
5	chr1:192778600-192781200	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
6	chr1:192778600-192781400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
7	chr1:192778600-192781800	Transcr. at gene 5' and 3'	Fetal Lung	lung
8	chr1:192778800-192781200	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
9	chr1:192778800-192782200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
10	chr1:192779000-192781200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
11	chr1:192779000-192784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:192779200-192782000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:192779200-192783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:192779200-192783800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:192779400-192781200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
16	chr1:192779400-192781400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:192779400-192781400	Weak transcription	Primary T cells from cord blood	blood
18	chr1:192779400-192781600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:192779400-192781600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:192779400-192782800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:192779400-192790800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:192779600-192781200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:192779600-192781400	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:192779600-192781400	Genic enhancers	HUVEC	blood vessel
25	chr1:192779600-192781600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:192779600-192781600	Weak transcription	Fetal Thymus	thymus
27	chr1:192779600-192781800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:192779600-192782000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:192779600-192782200	Weak transcription	Liver	Liver
30	chr1:192779600-192782200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:192779600-192782600	Weak transcription	Placenta	Placenta
32	chr1:192779600-192782600	Weak transcription	Lung	lung
33	chr1:192779600-192783400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:192779600-192793200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:192779800-192781200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr1:192779800-192781200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:192779800-192781400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:192779800-192781400	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:192779800-192781400	Weak transcription	Stomach Mucosa	stomach
40	chr1:192779800-192781400	Strong transcription	HSMM	muscle
41	chr1:192779800-192781400	Strong transcription	NH-A	brain
42	chr1:192779800-192781600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:192779800-192781800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:192779800-192781800	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:192779800-192781800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:192779800-192781800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:192779800-192782000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:192779800-192782000	Weak transcription	Fetal Brain Female	brain
49	chr1:192779800-192782600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:192779800-192782600	Weak transcription	Right Ventricle	heart

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