Variant report

Variant	rs2073550
Chromosome Location	chr7:104757483-104757484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104716447..104718430-chr7:104756348..104758155,2	K562	blood:
2	chr7:104757007..104759673-chr7:105027481..105029991,2	MCF-7	breast:
3	chr7:104748748..104753813-chr7:104754456..104758355,8	K562	blood:

Variant related genes	Relation type
ENSG00000005483	Chromatin interaction
ENSG00000135250	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs2240456	1.00[EUR][1000 genomes]
rs2240462	0.83[ASN][1000 genomes]
rs2240464	0.80[ASN][1000 genomes]
rs2299296	1.00[EUR][1000 genomes]
rs2299300	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299301	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299302	0.80[ASN][1000 genomes]
rs2299307	0.83[ASN][1000 genomes]
rs2299310	1.00[JPT][hapmap]
rs2299317	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2299318	0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs2299329	0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs28722876	0.83[ASN][1000 genomes]
rs3735370	0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs3735371	0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs3735378	1.00[EUR][1000 genomes]
rs3779211	1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3801280	1.00[JPT][hapmap]
rs3801287	0.83[ASN][1000 genomes]
rs56300169	1.00[EUR][1000 genomes]
rs56654846	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56666353	0.83[ASN][1000 genomes]
rs56676421	0.83[ASN][1000 genomes]
rs56851478	1.00[EUR][1000 genomes]
rs57323610	0.83[ASN][1000 genomes]
rs57369490	0.80[ASN][1000 genomes]
rs57492989	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58469240	1.00[EUR][1000 genomes]
rs59242356	1.00[EUR][1000 genomes]
rs59263503	1.00[EUR][1000 genomes]
rs59290277	1.00[EUR][1000 genomes]
rs59581221	0.83[ASN][1000 genomes]
rs60714423	0.80[ASN][1000 genomes]
rs61262987	0.83[ASN][1000 genomes]
rs61383544	1.00[EUR][1000 genomes]
rs61677699	0.83[ASN][1000 genomes]
rs61705676	0.83[ASN][1000 genomes]
rs73404094	0.83[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	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2073550	DDAH1	trans	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104678000-104812200	Strong transcription	Dnd41	blood
3	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:104703600-104759000	Strong transcription	Fetal Intestine Large	intestine
9	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:104712400-104758800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:104722200-104759400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:104727800-104758200	Strong transcription	Fetal Thymus	thymus
13	chr7:104727800-104759200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:104727800-104759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:104727800-104760400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:104728000-104760200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr7:104728200-104758400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:104728200-104758400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr7:104728400-104758400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:104728400-104758400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:104737000-104757800	Strong transcription	Adipose Nuclei	Adipose
22	chr7:104737800-104758800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:104738600-104758400	Strong transcription	Fetal Lung	lung
24	chr7:104738800-104760200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:104739000-104759200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr7:104739800-104757800	Strong transcription	HSMM	muscle
27	chr7:104740000-104758400	Strong transcription	NHDF-Ad	bronchial
28	chr7:104740200-104759000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:104740200-104759400	Strong transcription	Primary B cells from cord blood	blood
30	chr7:104740400-104758200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:104740400-104759200	Strong transcription	Primary T cells from cord blood	blood
32	chr7:104740400-104787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:104740800-104758400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:104740800-104760200	Strong transcription	HMEC	breast
35	chr7:104741400-104757800	Strong transcription	HUVEC	blood vessel
36	chr7:104741600-104758600	Strong transcription	Placenta	Placenta
37	chr7:104742200-104759800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:104742400-104760200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:104742800-104758400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:104743800-104758600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:104743800-104758600	Strong transcription	GM12878-XiMat	blood
42	chr7:104745200-104758600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr7:104750200-104777000	Weak transcription	Right Atrium	heart
44	chr7:104752800-104759400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:104752800-104763200	Weak transcription	Fetal Heart	heart
46	chr7:104752800-104807400	Weak transcription	Fetal Brain Male	brain
47	chr7:104753200-104758400	Strong transcription	Colon Smooth Muscle	Colon
48	chr7:104753200-104758800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr7:104753200-104760800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:104753600-104759000	Strong transcription	Brain Anterior Caudate	brain

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