Variant report

Variant	rs7559619
Chromosome Location	chr2:38892207-38892208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr2:38892079-38892388	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38890666..38892556-chr2:38947054..38950004,2	K562	blood:
2	chr2:38892007..38895113-chr2:38976994..38979857,4	K562	blood:
3	chr2:38824811..38832919-chr2:38891494..38898299,16	K562	blood:
4	chr2:38891821..38893324-chr2:38896247..38899182,2	K562	blood:
5	chr2:38825670..38832919-chr2:38891527..38903424,21	K562	blood:
6	chr2:38881069..38883433-chr2:38890460..38892656,2	K562	blood:
7	chr2:38891861..38895889-chr2:38976029..38979857,7	K562	blood:

No data

Variant related genes	Relation type
GALM	TF binding region
ENSG00000235586	Chromatin interaction
ENSG00000232518	Chromatin interaction
ENSG00000143889	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1469594	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs28578699	0.82[ASN][1000 genomes]
rs4670264	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs4670265	0.94[CHB][hapmap]
rs58905133	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active 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	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv873882	chr2:38858669-38921498	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv873883	chr2:38881106-38932777	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38882200-38892800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:38882800-38892800	Weak transcription	Thymus	Thymus
3	chr2:38887600-38892600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:38888400-38892800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:38888800-38892800	Weak transcription	HSMMtube	muscle
6	chr2:38889800-38892800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:38889800-38892800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:38890200-38892800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:38890200-38892800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:38890400-38892400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:38890600-38892600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:38890600-38892800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:38890800-38892600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:38890800-38892800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:38891000-38892400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:38891000-38892800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:38891200-38892800	Enhancers	K562	blood
18	chr2:38891600-38892800	Enhancers	GM12878-XiMat	blood
19	chr2:38891800-38892400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:38891800-38892400	Enhancers	Stomach Mucosa	stomach
21	chr2:38891800-38892600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:38891800-38892800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:38891800-38892800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:38891800-38892800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:38891800-38892800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:38891800-38892800	Weak transcription	Osteobl	bone
27	chr2:38892000-38892400	Flanking Active TSS	HepG2	liver
28	chr2:38892200-38892600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:38892200-38892600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:38892200-38892600	Enhancers	Brain Anterior Caudate	brain
31	chr2:38892200-38892600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr2:38892200-38892600	Enhancers	Colonic Mucosa	Colon
33	chr2:38892200-38892600	Enhancers	Fetal Stomach	stomach
34	chr2:38892200-38892600	Enhancers	Ovary	ovary
35	chr2:38892200-38892600	Enhancers	Rectal Smooth Muscle	rectum
36	chr2:38892200-38892600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:38892200-38892600	Enhancers	Stomach Smooth Muscle	stomach
38	chr2:38892200-38892600	Enhancers	Hela-S3	cervix
39	chr2:38892200-38892600	Enhancers	NHDF-Ad	bronchial
40	chr2:38892200-38892800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:38892200-38892800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr2:38892200-38892800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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