Variant report

Variant	rs73005300
Chromosome Location	chr2:149310914-149310915
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	chr2:149308756..149311819-chr2:149312294..149315148,3	K562	blood:
2	chr2:149310604..149312256-chr2:149400996..149403979,2	K562	blood:

Variant related genes	Relation type
ENSG00000135999	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12615627	0.85[EUR][1000 genomes]
rs12620020	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622366	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12691800	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12691802	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13014625	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13014829	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1550858	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1868396	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1868397	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1975596	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4609986	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4972284	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972376	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4972379	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4972382	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4972385	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55933306	0.85[EUR][1000 genomes]
rs56797270	1.00[EUR][1000 genomes]
rs57835656	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6708007	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73005293	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005302	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73007306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73007314	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73007341	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73016733	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7579702	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9287418	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv527539	chr2:149283070-149330251	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149303200-149311000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:149309000-149311000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:149309200-149312000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:149310000-149311400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:149310200-149311000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr2:149310200-149311000	Active TSS	Aorta	Aorta
7	chr2:149310200-149311000	Active TSS	Brain Cingulate Gyrus	brain
8	chr2:149310200-149311000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:149310200-149311000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:149310200-149311000	Active TSS	Rectal Smooth Muscle	rectum
11	chr2:149310200-149311000	Flanking Active TSS	GM12878-XiMat	blood
12	chr2:149310200-149311200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:149310200-149311200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr2:149310200-149311200	Active TSS	Primary B cells from cord blood	blood
15	chr2:149310200-149311200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr2:149310200-149311200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr2:149310200-149311200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr2:149310200-149311200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:149310200-149311200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:149310200-149311200	Active TSS	Muscle Satellite Cultured Cells	--
21	chr2:149310200-149311200	Active TSS	Brain Hippocampus Middle	brain
22	chr2:149310200-149311200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:149310200-149311200	Active TSS	Colonic Mucosa	Colon
24	chr2:149310200-149311200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr2:149310200-149311200	Flanking Active TSS	Fetal Lung	lung
26	chr2:149310200-149311200	Active TSS	Ovary	ovary
27	chr2:149310200-149311200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr2:149310200-149311200	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr2:149310200-149311200	Active TSS	Stomach Smooth Muscle	stomach
30	chr2:149310200-149311200	Active TSS	NHLF	lung
31	chr2:149310200-149311200	Active TSS	Osteobl	bone
32	chr2:149310200-149311400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr2:149310200-149311400	Active TSS	Duodenum Mucosa	Duodenum
34	chr2:149310200-149311400	Flanking Active TSS	Dnd41	blood
35	chr2:149310400-149311000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:149310400-149311000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:149310400-149311000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:149310400-149311000	Active TSS	Primary T cells from cord blood	blood
39	chr2:149310400-149311000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:149310400-149311000	Active TSS	Liver	Liver
41	chr2:149310400-149311000	Active TSS	Brain Anterior Caudate	brain
42	chr2:149310400-149311000	Active TSS	Left Ventricle	heart
43	chr2:149310400-149311000	Active TSS	Right Atrium	heart
44	chr2:149310400-149311000	Active TSS	A549	lung
45	chr2:149310400-149311000	Active TSS	HSMM	muscle
46	chr2:149310400-149311000	Active TSS	HUVEC	blood vessel
47	chr2:149310400-149311000	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr2:149310400-149311000	Active TSS	NHDF-Ad	bronchial
49	chr2:149310400-149311200	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr2:149310400-149311200	Active TSS	Brain Substantia Nigra	brain

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