Variant report

Variant	rs17597580
Chromosome Location	chr4:100468793-100468794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11097669	0.92[CEU][hapmap]
rs12647527	0.92[CEU][hapmap]
rs17029142	0.92[CEU][hapmap]
rs17597208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs881980	0.83[CEU][hapmap]

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	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv3584519	chr4:100323870-100477462	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3584523	chr4:100437553-100476549	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100458600-100484000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:100459400-100472200	Weak transcription	Liver	Liver
3	chr4:100459400-100477000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:100462200-100472800	Weak transcription	Psoas Muscle	Psoas
5	chr4:100462200-100483800	Weak transcription	Fetal Intestine Large	intestine
6	chr4:100463000-100472000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:100464600-100483800	Weak transcription	Primary T cells from cord blood	blood
8	chr4:100464800-100484000	Weak transcription	HMEC	breast
9	chr4:100465200-100473600	Weak transcription	Adipose Nuclei	Adipose
10	chr4:100465400-100484000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:100465800-100473200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:100466600-100470200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:100466600-100484000	Weak transcription	Aorta	Aorta
14	chr4:100466800-100476400	Weak transcription	Left Ventricle	heart
15	chr4:100466800-100479600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:100466800-100483800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:100467200-100472200	Weak transcription	Primary B cells from cord blood	blood
18	chr4:100467200-100484200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:100468000-100483600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr4:100468200-100476800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:100468400-100472400	Weak transcription	Fetal Lung	lung
22	chr4:100468400-100475800	Weak transcription	HSMM	muscle
23	chr4:100468400-100484000	Weak transcription	Brain Anterior Caudate	brain
24	chr4:100468600-100483800	Weak transcription	Pancreas	Pancrea
25	chr4:100468600-100483800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:100468600-100484000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:100468600-100484200	Weak transcription	Ovary	ovary

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