Variant report

Variant	rs72997684
Chromosome Location	chr3:105598148-105598149
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105595423..105598244-chr3:105600923..105603422,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12485832	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486371	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12487841	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12496588	0.80[AMR][1000 genomes]
rs2089092	0.84[AMR][1000 genomes]
rs2455887	0.86[ASN][1000 genomes]
rs3772512	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58882222	0.86[ASN][1000 genomes]
rs6437623	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778745	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6791765	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6793018	1.00[ASN][1000 genomes]
rs6796362	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72997629	1.00[ASN][1000 genomes]
rs7639888	0.80[AMR][1000 genomes]
rs7650147	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820060	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9841798	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9880744	0.80[AMR][1000 genomes];1.00[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	nsv1008564	chr3:105554580-105643435	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1008876	chr3:105554580-105645373	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv877312	chr3:105560638-105916506	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105589000-105601200	Weak transcription	Aorta	Aorta
2	chr3:105589000-105601200	Weak transcription	Thymus	Thymus
3	chr3:105589000-105601200	Weak transcription	NH-A	brain
4	chr3:105589200-105601200	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:105595800-105599400	Weak transcription	Stomach Mucosa	stomach
6	chr3:105596200-105601200	Weak transcription	Fetal Kidney	kidney
7	chr3:105596400-105601200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:105596600-105601200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr3:105596600-105601200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:105596600-105601200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:105597000-105601200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr3:105597200-105599200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:105597200-105601200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr3:105597200-105601200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:105597200-105601200	Weak transcription	NHLF	lung
16	chr3:105597200-105601400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:105597400-105599200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:105597400-105601200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:105597400-105601200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:105597400-105601200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:105597400-105601200	Weak transcription	Osteobl	bone
22	chr3:105597600-105601200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:105597600-105601200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:105597600-105601200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr3:105597600-105601200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:105597600-105601200	Weak transcription	Fetal Lung	lung
27	chr3:105597600-105601400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:105597600-105601400	Weak transcription	Primary T cells from cord blood	blood
29	chr3:105597600-105601400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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