Variant report

Variant	rs56319654
Chromosome Location	chr2:98466178-98466179
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55804443	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55887737	0.80[AFR][1000 genomes]
rs56954126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58576615	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60567628	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960406	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960407	1.00[AMR][1000 genomes]
rs73960426	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960430	1.00[AMR][1000 genomes]
rs73960434	1.00[AMR][1000 genomes]
rs7576509	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98406400-98469200	Weak transcription	A549	lung
2	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
3	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
4	chr2:98424000-98475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:98428000-98466600	Weak transcription	K562	blood
6	chr2:98428800-98485000	Weak transcription	NHLF	lung
7	chr2:98429000-98470600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:98430000-98467800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:98431000-98466400	Weak transcription	NH-A	brain
10	chr2:98434200-98484000	Weak transcription	NHDF-Ad	bronchial
11	chr2:98434400-98466400	Weak transcription	Brain Substantia Nigra	brain
12	chr2:98434400-98485800	Weak transcription	Lung	lung
13	chr2:98446000-98475000	Weak transcription	Gastric	stomach
14	chr2:98447800-98466200	Weak transcription	Psoas Muscle	Psoas
15	chr2:98447800-98479600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:98447800-98502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:98449600-98482000	Weak transcription	Fetal Kidney	kidney
18	chr2:98451800-98466200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:98457000-98466400	Weak transcription	Osteobl	bone
20	chr2:98457000-98477400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:98457000-98477400	Weak transcription	Esophagus	oesophagus
22	chr2:98457000-98478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:98457000-98485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:98457200-98466200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:98457200-98467600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:98457200-98485800	Weak transcription	Brain Anterior Caudate	brain
27	chr2:98457400-98466600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:98457400-98485800	Weak transcription	Aorta	Aorta
29	chr2:98457600-98468200	Weak transcription	Fetal Thymus	thymus
30	chr2:98457600-98469000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:98457600-98475000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:98457600-98475000	Weak transcription	Fetal Stomach	stomach
33	chr2:98457600-98475000	Weak transcription	Pancreas	Pancrea
34	chr2:98457600-98475000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:98457600-98475000	Weak transcription	Spleen	Spleen
36	chr2:98457600-98475200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:98457600-98477600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:98457600-98485400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:98457800-98466400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:98457800-98467600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:98457800-98467600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:98457800-98467800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:98457800-98473600	Weak transcription	Left Ventricle	heart
44	chr2:98457800-98474800	Weak transcription	Adipose Nuclei	Adipose
45	chr2:98457800-98475000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:98457800-98475200	Weak transcription	Thymus	Thymus
47	chr2:98457800-98478000	Weak transcription	Colonic Mucosa	Colon
48	chr2:98457800-98485200	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:98458000-98468400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:98458000-98475000	Weak transcription	Colon Smooth Muscle	Colon

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