Variant report

Variant	rs72853158
Chromosome Location	chr2:30671548-30671549
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30454671..30456447-chr2:30669328..30672295,2	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs72853137	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72853170	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72853176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72853186	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72856608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72856611	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72856617	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72856619	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72856654	1.00[AMR][1000 genomes]
rs72856657	1.00[AMR][1000 genomes]
rs72856658	1.00[AMR][1000 genomes]
rs72856694	1.00[AMR][1000 genomes]
rs72856700	1.00[AMR][1000 genomes]
rs72856701	1.00[AMR][1000 genomes]
rs72858905	1.00[AMR][1000 genomes]
rs72858912	1.00[AMR][1000 genomes]
rs72858921	1.00[AMR][1000 genomes]
rs72858923	1.00[AMR][1000 genomes]
rs72858973	1.00[AMR][1000 genomes]
rs72858974	1.00[AMR][1000 genomes]
rs72858999	1.00[AMR][1000 genomes]
rs72863003	1.00[AMR][1000 genomes]
rs72863010	1.00[AMR][1000 genomes]
rs72863017	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30669400-30672000	Active TSS	Right Ventricle	heart
2	chr2:30669800-30671600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:30669800-30671600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:30670200-30671600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr2:30670400-30671600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:30670600-30671600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:30670600-30671600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr2:30670600-30671800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr2:30670600-30671800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr2:30670600-30671800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:30670600-30671800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr2:30670600-30671800	Flanking Active TSS	HepG2	liver
13	chr2:30670600-30671800	Flanking Active TSS	Osteobl	bone
14	chr2:30670600-30672000	Flanking Active TSS	Dnd41	blood
15	chr2:30670600-30672000	Flanking Active TSS	K562	blood
16	chr2:30670800-30671600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:30670800-30671600	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr2:30670800-30671600	Flanking Active TSS	Hela-S3	cervix
19	chr2:30670800-30671600	Flanking Active TSS	NHEK	skin
20	chr2:30670800-30671800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:30670800-30671800	Flanking Active TSS	Fetal Heart	heart
22	chr2:30670800-30671800	Enhancers	Small Intestine	intestine
23	chr2:30670800-30672000	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr2:30671000-30671600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:30671000-30671600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:30671000-30671600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:30671000-30671600	Enhancers	Primary hematopoietic stem cells	blood
28	chr2:30671000-30671600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:30671000-30671600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:30671000-30671600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:30671000-30671600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:30671000-30671600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:30671000-30671600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:30671000-30671600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:30671000-30671600	Enhancers	Colon Smooth Muscle	Colon
36	chr2:30671000-30671600	Enhancers	Esophagus	oesophagus
37	chr2:30671000-30671600	Enhancers	Fetal Muscle Leg	muscle
38	chr2:30671000-30671600	Enhancers	Gastric	stomach
39	chr2:30671000-30671600	Active TSS	Rectal Smooth Muscle	rectum
40	chr2:30671000-30671600	Enhancers	Spleen	Spleen
41	chr2:30671000-30671800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr2:30671000-30671800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:30671000-30671800	Active TSS	HSMMtube	muscle
44	chr2:30671000-30672000	Enhancers	Primary B cells from peripheral blood	blood
45	chr2:30671000-30672000	Enhancers	Fetal Lung	lung
46	chr2:30671000-30672000	Flanking Active TSS	A549	lung
47	chr2:30671000-30674200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:30671000-30675600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:30671000-30675600	Weak transcription	Psoas Muscle	Psoas
50	chr2:30671000-30677400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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