Variant report

Variant	rs283487
Chromosome Location	chr2:233644011-233644012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1022329	0.84[EUR][1000 genomes]
rs10427328	0.82[EUR][1000 genomes]
rs1078323	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10933406	0.81[EUR][1000 genomes]
rs11688166	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11689851	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11893358	0.88[EUR][1000 genomes]
rs12105766	0.85[EUR][1000 genomes]
rs12619195	0.81[EUR][1000 genomes]
rs12993791	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12999865	0.87[EUR][1000 genomes]
rs13001052	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13009957	0.81[EUR][1000 genomes]
rs13021823	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13024330	0.81[EUR][1000 genomes]
rs1446309	0.81[ASN][1000 genomes]
rs17164	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1973675	0.88[EUR][1000 genomes]
rs2289911	0.83[EUR][1000 genomes]
rs2293780	0.88[EUR][1000 genomes]
rs2344611	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2344613	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2592104	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs283465	0.90[EUR][1000 genomes]
rs283467	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs283470	0.80[EUR][1000 genomes]
rs34707169	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35491427	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4144795	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4144797	0.90[EUR][1000 genomes]
rs62193271	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6704763	0.84[EUR][1000 genomes]
rs6710294	0.83[EUR][1000 genomes]
rs6716488	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6717048	0.83[EUR][1000 genomes]
rs6733495	0.85[EUR][1000 genomes]
rs6739794	0.82[EUR][1000 genomes]
rs737027	0.88[EUR][1000 genomes]
rs7560115	0.82[EUR][1000 genomes]
rs921055	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs974321	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:233611600-233645600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:233612000-233644600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:233621400-233644400	Strong transcription	Liver	Liver
5	chr2:233627800-233645000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:233628600-233644200	Weak transcription	Ovary	ovary
7	chr2:233628600-233655400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:233629200-233655800	Weak transcription	Colonic Mucosa	Colon
9	chr2:233629400-233644200	Weak transcription	Right Ventricle	heart
10	chr2:233629400-233649600	Weak transcription	Spleen	Spleen
11	chr2:233629400-233652600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:233629400-233655200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:233629400-233655400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:233631600-233659200	Weak transcription	Psoas Muscle	Psoas
15	chr2:233633400-233652600	Weak transcription	Brain Germinal Matrix	brain
16	chr2:233633600-233649600	Weak transcription	Pancreas	Pancrea
17	chr2:233636200-233644200	Weak transcription	HMEC	breast
18	chr2:233636200-233646200	Weak transcription	HSMMtube	muscle
19	chr2:233636200-233646400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:233636200-233646400	Weak transcription	K562	blood
21	chr2:233636200-233649600	Weak transcription	Aorta	Aorta
22	chr2:233636200-233649600	Weak transcription	Lung	lung
23	chr2:233636200-233650000	Weak transcription	Fetal Brain Male	brain
24	chr2:233636200-233651400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:233636200-233655200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:233636200-233655200	Weak transcription	NHLF	lung
27	chr2:233636200-233655400	Weak transcription	Esophagus	oesophagus
28	chr2:233636400-233649200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:233636400-233651800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:233636400-233651800	Weak transcription	NH-A	brain
31	chr2:233636400-233655000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:233636800-233650000	Weak transcription	Osteobl	bone
33	chr2:233637000-233649400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:233637000-233651000	Weak transcription	Left Ventricle	heart
35	chr2:233637000-233652600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:233637400-233646200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:233637400-233649600	Weak transcription	Thymus	Thymus
38	chr2:233637400-233649800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:233637600-233644200	Weak transcription	Fetal Stomach	stomach
40	chr2:233637600-233648600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:233637600-233648800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:233637600-233649600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:233637600-233652400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:233637800-233645000	Weak transcription	Fetal Lung	lung
45	chr2:233637800-233646400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:233637800-233651800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:233637800-233652400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:233637800-233652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:233638000-233651600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:233638000-233653800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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