Variant report

Variant	rs2814494
Chromosome Location	chr1:220427957-220427958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10863538	0.82[ASN][1000 genomes]
rs11118507	0.82[ASN][1000 genomes]
rs1397958	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1588578	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2221833	0.83[ASN][1000 genomes]
rs2667968	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2667969	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2667970	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2808008	0.86[AMR][1000 genomes]
rs2808009	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2808011	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2808012	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2808013	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2808016	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2808018	0.87[AMR][1000 genomes]
rs2808019	0.87[AMR][1000 genomes]
rs4142940	0.81[ASN][1000 genomes]
rs4511114	0.81[ASN][1000 genomes]
rs6541127	0.83[ASN][1000 genomes]
rs6696985	0.83[AMR][1000 genomes]
rs7535619	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4643	chr1:220397642-220442231	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv945297	chr1:220426814-220434679	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
2	chr1:220416000-220442600	Weak transcription	Fetal Heart	heart
3	chr1:220418200-220431400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:220421000-220436800	Weak transcription	Fetal Kidney	kidney
5	chr1:220423000-220443400	Weak transcription	Psoas Muscle	Psoas
6	chr1:220423200-220428200	Weak transcription	Stomach Mucosa	stomach
7	chr1:220423400-220443400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:220423400-220443400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:220423600-220428600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:220423600-220429000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:220423600-220440400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:220423800-220430000	Weak transcription	Fetal Brain Male	brain
13	chr1:220423800-220442600	Weak transcription	Hela-S3	cervix
14	chr1:220424400-220439600	Weak transcription	HMEC	breast
15	chr1:220425200-220431400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:220425200-220443400	Weak transcription	HUVEC	blood vessel
17	chr1:220426200-220433200	Weak transcription	Primary B cells from cord blood	blood
18	chr1:220426200-220440200	Weak transcription	Gastric	stomach
19	chr1:220426200-220441800	Weak transcription	Small Intestine	intestine
20	chr1:220426400-220439600	Weak transcription	HSMMtube	muscle
21	chr1:220426600-220429200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:220426600-220429200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:220426600-220429400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:220426600-220430400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:220426600-220435800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:220426600-220436400	Weak transcription	A549	lung
27	chr1:220426600-220436800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:220426600-220439000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:220426600-220439800	Weak transcription	NHEK	skin
30	chr1:220426600-220440000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:220426600-220440200	Weak transcription	NHLF	lung
32	chr1:220426600-220440600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:220426600-220443400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:220426600-220443400	Weak transcription	Right Ventricle	heart
35	chr1:220426600-220444400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:220426800-220428200	Weak transcription	HepG2	liver
37	chr1:220426800-220428600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:220426800-220428600	Weak transcription	Primary T cells from cord blood	blood
39	chr1:220426800-220428600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:220426800-220428800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:220426800-220428800	Weak transcription	Fetal Intestine Large	intestine
42	chr1:220426800-220429000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:220426800-220429000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:220426800-220429200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:220426800-220429400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:220426800-220429600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:220426800-220429800	Weak transcription	Brain Anterior Caudate	brain
48	chr1:220426800-220430800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:220426800-220431000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:220426800-220431000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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