Variant report

Variant	rs72863023
Chromosome Location	chr2:30850926-30850927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30848701..30851520-chr2:30857233..30859467,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
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]
rs72859002	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:1 , 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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

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	chr2:30811600-30863000	Weak transcription	Ovary	ovary
5	chr2:30831600-30852800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:30831800-30863000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:30834600-30863800	Weak transcription	Aorta	Aorta
8	chr2:30835600-30851200	Weak transcription	HSMMtube	muscle
9	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
10	chr2:30836000-30854000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:30836000-30855200	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:30837600-30863000	Weak transcription	HepG2	liver
13	chr2:30839000-30854000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:30840000-30861600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
16	chr2:30843400-30864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:30844800-30852400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:30845000-30852800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:30845000-30853600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:30845200-30853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:30845200-30855200	Weak transcription	Primary B cells from cord blood	blood
22	chr2:30845400-30853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:30845400-30862600	Weak transcription	Left Ventricle	heart
24	chr2:30845400-30862800	Weak transcription	Right Ventricle	heart
25	chr2:30845400-30863000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:30845600-30852800	Weak transcription	Primary T cells from cord blood	blood
27	chr2:30845600-30853600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:30845600-30854000	Weak transcription	Fetal Thymus	thymus
29	chr2:30845600-30861200	Weak transcription	Fetal Lung	lung
30	chr2:30845600-30861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:30845600-30861600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:30845600-30863000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:30845600-30863000	Weak transcription	A549	lung
34	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:30846200-30863000	Weak transcription	Fetal Intestine Large	intestine
37	chr2:30848600-30851000	Flanking Active TSS	GM12878-XiMat	blood
38	chr2:30849000-30863800	Weak transcription	K562	blood
39	chr2:30849600-30851400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:30849600-30851800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:30849800-30851800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:30850000-30851600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:30850200-30851000	Weak transcription	Fetal Heart	heart
44	chr2:30850200-30851400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:30850400-30853800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:30850400-30865000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:30850400-30869200	Weak transcription	Gastric	stomach
49	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:30850600-30851200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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