Variant report

Variant	rs72863027
Chromosome Location	chr2:30853548-30853549
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	chr2:30852777..30854319-chr2:30913782..30915873,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17009647	0.85[AMR][1000 genomes]
rs17009802	0.87[AMR][1000 genomes]
rs17009815	1.00[AMR][1000 genomes]
rs57890362	1.00[AMR][1000 genomes]
rs58730941	1.00[AMR][1000 genomes]
rs59120669	1.00[AMR][1000 genomes]
rs59228351	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59450374	1.00[AMR][1000 genomes]
rs60821673	0.87[AMR][1000 genomes]
rs60847386	1.00[AMR][1000 genomes]
rs61006780	0.85[AMR][1000 genomes]
rs61232451	1.00[AMR][1000 genomes]
rs6714637	1.00[AMR][1000 genomes]
rs6718986	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6738751	0.83[AFR][1000 genomes]
rs6761612	1.00[AMR][1000 genomes]
rs72856691	1.00[AMR][1000 genomes]
rs72858915	1.00[AMR][1000 genomes]
rs72858918	1.00[AMR][1000 genomes]
rs72858941	1.00[AMR][1000 genomes]
rs72858988	1.00[AMR][1000 genomes]
rs72858990	0.85[AMR][1000 genomes]
rs72863005	0.85[AMR][1000 genomes]
rs72863019	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72863050	0.83[AFR][1000 genomes]
rs7557310	0.87[AMR][1000 genomes]
rs7578150	0.87[AMR][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:67 , 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	chr2:30811600-30863000	Weak transcription	Ovary	ovary
4	chr2:30831800-30863000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:30834600-30863800	Weak transcription	Aorta	Aorta
6	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
7	chr2:30836000-30854000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:30836000-30855200	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:30837600-30863000	Weak transcription	HepG2	liver
10	chr2:30839000-30854000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:30840000-30861600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
13	chr2:30843400-30864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:30845000-30853600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:30845200-30853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:30845200-30855200	Weak transcription	Primary B cells from cord blood	blood
17	chr2:30845400-30853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:30845400-30862600	Weak transcription	Left Ventricle	heart
19	chr2:30845400-30862800	Weak transcription	Right Ventricle	heart
20	chr2:30845400-30863000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:30845600-30853600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:30845600-30854000	Weak transcription	Fetal Thymus	thymus
23	chr2:30845600-30861200	Weak transcription	Fetal Lung	lung
24	chr2:30845600-30861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:30845600-30861600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:30845600-30863000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:30845600-30863000	Weak transcription	A549	lung
28	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:30846200-30863000	Weak transcription	Fetal Intestine Large	intestine
31	chr2:30849000-30863800	Weak transcription	K562	blood
32	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:30850400-30853800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr2:30850400-30865000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:30850400-30869200	Weak transcription	Gastric	stomach
36	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:30851400-30854200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:30851400-30865000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:30851600-30863000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:30851800-30862800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:30851800-30863200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:30851800-30865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:30852000-30859600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:30852400-30854400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr2:30852400-30855600	Enhancers	HSMMtube	muscle
46	chr2:30852400-30863000	Weak transcription	Esophagus	oesophagus
47	chr2:30852600-30854400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:30852800-30853800	Weak transcription	NH-A	brain
49	chr2:30852800-30854400	Enhancers	Primary T cells from cord blood	blood
50	chr2:30852800-30854400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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