Variant report

Variant	rs72920550
Chromosome Location	chr2:54835633-54835634
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	chr2:54823186..54826195-chr2:54832588..54835705,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11888386	1.00[EUR][1000 genomes]
rs17045958	0.85[AMR][1000 genomes]
rs17046281	1.00[EUR][1000 genomes]
rs57381328	1.00[EUR][1000 genomes]
rs57623434	1.00[EUR][1000 genomes]
rs57749522	1.00[EUR][1000 genomes]
rs58833605	1.00[EUR][1000 genomes]
rs58920119	1.00[EUR][1000 genomes]
rs59039394	1.00[EUR][1000 genomes]
rs60282658	1.00[EUR][1000 genomes]
rs60410507	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6705313	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6714663	1.00[EUR][1000 genomes]
rs6740557	1.00[EUR][1000 genomes]
rs6743161	1.00[EUR][1000 genomes]
rs6751570	1.00[EUR][1000 genomes]
rs72906405	1.00[EUR][1000 genomes]
rs72906407	1.00[EUR][1000 genomes]
rs72906419	1.00[EUR][1000 genomes]
rs72906421	1.00[EUR][1000 genomes]
rs72906425	1.00[EUR][1000 genomes]
rs72906426	1.00[EUR][1000 genomes]
rs72911566	1.00[EUR][1000 genomes]
rs72911570	1.00[EUR][1000 genomes]
rs72911573	1.00[EUR][1000 genomes]
rs72913008	1.00[EUR][1000 genomes]
rs72913540	1.00[EUR][1000 genomes]
rs72913543	1.00[EUR][1000 genomes]
rs72913547	1.00[EUR][1000 genomes]
rs72913549	1.00[EUR][1000 genomes]
rs72913551	1.00[EUR][1000 genomes]
rs72915537	1.00[EUR][1000 genomes]
rs72915543	1.00[EUR][1000 genomes]
rs72915544	1.00[EUR][1000 genomes]
rs72915554	1.00[EUR][1000 genomes]
rs72915563	1.00[EUR][1000 genomes]
rs72915572	1.00[EUR][1000 genomes]
rs72915587	1.00[EUR][1000 genomes]
rs72915590	1.00[EUR][1000 genomes]
rs72917518	1.00[EUR][1000 genomes]
rs72917541	1.00[EUR][1000 genomes]
rs72918782	1.00[EUR][1000 genomes]
rs72918788	1.00[EUR][1000 genomes]
rs72920524	1.00[EUR][1000 genomes]
rs72920525	1.00[EUR][1000 genomes]
rs72920540	0.86[AFR][1000 genomes]
rs72920549	1.00[EUR][1000 genomes]
rs72920563	1.00[EUR][1000 genomes]
rs72920576	1.00[EUR][1000 genomes]
rs7572839	1.00[EUR][1000 genomes]
rs7580158	1.00[EUR][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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54824800-54839200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:54827200-54839000	Weak transcription	Hela-S3	cervix
3	chr2:54827600-54839200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:54827600-54839200	Weak transcription	Dnd41	blood
5	chr2:54829800-54859800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:54830200-54835800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr2:54830800-54839200	Weak transcription	Esophagus	oesophagus
8	chr2:54831000-54837800	Weak transcription	Osteobl	bone
9	chr2:54831200-54838000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:54831400-54837000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:54832200-54836200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:54832200-54838200	Enhancers	Brain Hippocampus Middle	brain
13	chr2:54832200-54839200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:54832200-54839200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:54832200-54839200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:54832200-54840800	Weak transcription	K562	blood
17	chr2:54832400-54837200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:54832400-54839200	Weak transcription	Placenta	Placenta
19	chr2:54832400-54843400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:54832400-54843800	Weak transcription	Brain Germinal Matrix	brain
21	chr2:54832600-54835800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:54832600-54837200	Weak transcription	HSMMtube	muscle
23	chr2:54832600-54839200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:54832800-54839000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr2:54832800-54839600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:54833000-54836000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:54833000-54836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:54833000-54837800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:54833000-54839400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:54833000-54839400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:54833000-54839400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:54833000-54839600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:54833000-54841000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:54833200-54836600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:54833200-54836600	Weak transcription	Small Intestine	intestine
36	chr2:54833400-54838800	Weak transcription	Primary B cells from cord blood	blood
37	chr2:54833400-54843400	Weak transcription	Fetal Brain Male	brain
38	chr2:54833600-54836200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:54833600-54836200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:54833600-54836200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:54833600-54836600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:54833600-54839200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:54833600-54839200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:54833600-54839200	Weak transcription	Psoas Muscle	Psoas
45	chr2:54833600-54839600	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:54833600-54840000	Weak transcription	Fetal Kidney	kidney
47	chr2:54833800-54835800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:54833800-54836400	Weak transcription	Aorta	Aorta
49	chr2:54833800-54836600	Weak transcription	Gastric	stomach
50	chr2:54833800-54836600	Weak transcription	Stomach Mucosa	stomach

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