Variant report

Variant	rs3738717
Chromosome Location	chr1:226793428-226793429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226789700..226792954-chr1:226793236..226797673,6	K562	blood:
2	chr1:226787500..226789120-chr1:226793109..226795221,2	K562	blood:
3	chr1:226784528..226786182-chr1:226793038..226795397,2	K562	blood:

Variant related genes	Relation type
ENSG00000203685	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10799362	0.82[CHB][hapmap]
rs10916012	0.87[ASN][1000 genomes]
rs12086425	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12086463	0.94[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3820632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6663978	0.82[CHB][hapmap]
rs6664080	0.82[CHB][hapmap]
rs6667555	0.82[CHB][hapmap]
rs6697883	0.82[CHB][hapmap]
rs7512486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470779	chr1:226778432-226833304	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3437833	chr1:226780025-226810577	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226789600-226795200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr1:226789800-226795600	Enhancers	Placenta	Placenta
3	chr1:226790000-226793600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:226790000-226794800	Enhancers	Fetal Heart	heart
5	chr1:226790000-226794800	Enhancers	Ovary	ovary
6	chr1:226790200-226793600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:226790200-226795200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:226790400-226794800	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:226790400-226795400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:226790600-226794000	Weak transcription	Lung	lung
11	chr1:226791200-226793800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:226791200-226794400	Enhancers	Fetal Brain Male	brain
13	chr1:226791200-226794800	Enhancers	Adipose Nuclei	Adipose
14	chr1:226791400-226793800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:226791400-226793800	Weak transcription	Stomach Mucosa	stomach
16	chr1:226791400-226794200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:226791400-226794800	Enhancers	Fetal Muscle Leg	muscle
18	chr1:226791400-226794800	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:226791600-226793600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:226791600-226794200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:226791600-226794800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:226791600-226795000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:226791600-226796400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:226791800-226793800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:226792000-226795200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:226792200-226794400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr1:226792400-226793600	Weak transcription	Fetal Brain Female	brain
28	chr1:226792400-226796400	Weak transcription	Fetal Intestine Small	intestine
29	chr1:226792600-226794600	Weak transcription	Fetal Thymus	thymus
30	chr1:226792800-226793600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:226792800-226794000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:226792800-226794000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:226792800-226794000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:226792800-226794000	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:226792800-226794000	Weak transcription	Fetal Lung	lung
36	chr1:226792800-226794000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:226792800-226795800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:226792800-226796200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:226793000-226793800	Bivalent Enhancer	Fetal Stomach	stomach
40	chr1:226793000-226794000	Weak transcription	Brain Germinal Matrix	brain
41	chr1:226793000-226794200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:226793000-226796000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:226793000-226797600	Weak transcription	Right Atrium	heart
44	chr1:226793000-226797800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:226793000-226797800	Weak transcription	Right Ventricle	heart
46	chr1:226793000-226798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:226793200-226793800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:226793200-226796200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:226793200-226796400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:226793200-226796800	Weak transcription	NHDF-Ad	bronchial

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