Variant report

Variant	rs72799277
Chromosome Location	chr2:54190332-54190333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54188266..54193064-chr2:54193123..54200059,18	K562	blood:

Variant related genes	Relation type
ENSG00000068878	Chromatin interaction
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2287339	1.00[AFR][1000 genomes]
rs3755115	1.00[AFR][1000 genomes]
rs72799278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72799293	1.00[AFR][1000 genomes]
rs72800707	1.00[AFR][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	esv2762257	chr2:54187617-54192015	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
2	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:54173400-54191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:54174200-54195600	Weak transcription	Thymus	Thymus
5	chr2:54175200-54193000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:54175200-54195400	Weak transcription	Fetal Stomach	stomach
7	chr2:54176200-54191600	Weak transcription	NHDF-Ad	bronchial
8	chr2:54176200-54192000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:54176200-54194200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:54176200-54194600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:54176200-54195400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:54176200-54195400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:54176200-54196000	Weak transcription	Fetal Thymus	thymus
14	chr2:54176200-54196200	Weak transcription	Placenta	Placenta
15	chr2:54176400-54194800	Weak transcription	NHLF	lung
16	chr2:54176400-54195000	Weak transcription	HSMM	muscle
17	chr2:54176800-54192200	Weak transcription	Hela-S3	cervix
18	chr2:54177000-54194800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:54177400-54191000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:54177400-54194400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:54177800-54195400	Weak transcription	Right Ventricle	heart
22	chr2:54180000-54195400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:54180400-54191800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:54183200-54190400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:54187600-54190400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:54187600-54190600	Enhancers	Primary B cells from peripheral blood	blood
27	chr2:54187600-54192600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:54187800-54191000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:54187800-54191600	Weak transcription	Osteobl	bone
30	chr2:54188000-54190600	Enhancers	HUVEC	blood vessel
31	chr2:54188000-54192800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:54188200-54190600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:54188200-54191000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:54188200-54192400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:54188200-54192400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:54188200-54192400	Enhancers	Brain Substantia Nigra	brain
37	chr2:54188200-54192600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:54188200-54192800	Enhancers	Primary T cells from cord blood	blood
39	chr2:54188400-54191000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:54188400-54193000	Enhancers	Primary B cells from cord blood	blood
41	chr2:54188400-54195400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:54188600-54190600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:54188600-54191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:54188600-54195200	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:54188800-54190400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:54188800-54190600	Enhancers	Brain Hippocampus Middle	brain
47	chr2:54188800-54190800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr2:54188800-54191000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:54188800-54192200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:54188800-54192200	Weak transcription	Stomach Mucosa	stomach

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