Variant report

Variant	rs72859002
Chromosome Location	chr2:30832038-30832039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs57847208	1.00[EUR][1000 genomes]
rs60449073	1.00[EUR][1000 genomes]
rs6739240	1.00[EUR][1000 genomes]
rs6748456	1.00[EUR][1000 genomes]
rs72853177	1.00[EUR][1000 genomes]
rs72853183	1.00[EUR][1000 genomes]
rs72856612	1.00[EUR][1000 genomes]
rs72856616	1.00[EUR][1000 genomes]
rs72856621	1.00[EUR][1000 genomes]
rs72856644	1.00[EUR][1000 genomes]
rs72856659	1.00[EUR][1000 genomes]
rs72856689	1.00[EUR][1000 genomes]
rs72863023	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72863101	1.00[EUR][1000 genomes]
rs72865406	1.00[EUR][1000 genomes]
rs7582446	1.00[EUR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv1826356	chr2:30809843-30841108	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1003432	chr2:30814986-30849343	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2762445	chr2:30814998-30849343	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
2	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:30798400-30839600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:30808200-30844600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:30811400-30834400	Weak transcription	Psoas Muscle	Psoas
7	chr2:30811600-30863000	Weak transcription	Ovary	ovary
8	chr2:30813000-30834200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:30813200-30832800	Weak transcription	Fetal Heart	heart
10	chr2:30815000-30834400	Weak transcription	Fetal Lung	lung
11	chr2:30818800-30835000	Weak transcription	Primary B cells from cord blood	blood
12	chr2:30823000-30835400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:30823400-30834000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:30823600-30834200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:30823600-30834400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:30824000-30835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:30825800-30844200	Weak transcription	Fetal Thymus	thymus
18	chr2:30826400-30835600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:30828000-30834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:30828000-30834200	Weak transcription	Left Ventricle	heart
21	chr2:30828200-30834200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:30828200-30834800	Weak transcription	HepG2	liver
23	chr2:30828400-30836200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:30828600-30833800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:30828600-30834800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:30828800-30834400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:30828800-30834600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:30828800-30835800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:30828800-30837600	Weak transcription	Primary T cells from cord blood	blood
30	chr2:30829000-30834200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:30829000-30834400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:30829000-30834400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:30830200-30834200	Weak transcription	HSMM	muscle
34	chr2:30831000-30844800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:30831600-30844800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:30831600-30852800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:30831800-30863000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:30832000-30835600	Weak transcription	A549	lung
39	chr2:30832000-30848600	Weak transcription	K562	blood

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