Variant report

Variant	rs12405995
Chromosome Location	chr1:214784114-214784115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10494983	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10494984	0.97[AMR][1000 genomes]
rs11120372	0.97[AMR][1000 genomes]
rs11805402	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12058704	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12060367	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12067133	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12071057	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12081395	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12096879	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12097817	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12097854	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12404854	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12405890	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12408129	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12408153	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12410075	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1511049	0.82[ASN][1000 genomes]
rs1511050	0.82[ASN][1000 genomes]
rs17023274	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023275	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023278	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17023282	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17023284	0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17023293	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17023299	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17023338	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17023380	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17023384	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2070066	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2280049	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2292377	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2292378	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2292379	0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2666834	0.82[ASN][1000 genomes]
rs2666840	0.84[ASN][1000 genomes]
rs2807662	0.82[ASN][1000 genomes]
rs3748692	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3748695	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3748696	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3748698	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3790646	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3790647	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3790648	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3790649	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3795514	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3795516	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3795517	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3795518	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3795519	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3795520	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3795522	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3795523	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3795524	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41303281	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58247244	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58724390	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59918378	0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60944459	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61546198	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6669573	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777600-214800400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:214777600-214810800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
4	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:214778200-214786600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:214778200-214786600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:214778200-214791200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:214778200-214791200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:214778200-214793000	Weak transcription	HSMM	muscle
11	chr1:214778200-214793600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:214778200-214793800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:214778200-214803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:214778400-214786600	Weak transcription	Osteobl	bone
15	chr1:214778400-214786800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:214778400-214794200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:214778600-214788000	Weak transcription	Hela-S3	cervix
18	chr1:214778600-214791200	Weak transcription	NHEK	skin
19	chr1:214778800-214786000	Weak transcription	NHDF-Ad	bronchial
20	chr1:214778800-214786600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:214778800-214787600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:214778800-214787800	Weak transcription	HepG2	liver
23	chr1:214778800-214788800	Weak transcription	HMEC	breast
24	chr1:214778800-214794000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:214781200-214784600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:214781200-214818000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:214781400-214786800	Weak transcription	NHLF	lung
28	chr1:214781400-214790600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:214781600-214791400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:214781800-214792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:214781800-214794000	Weak transcription	Fetal Stomach	stomach
32	chr1:214781800-214795800	Weak transcription	Fetal Intestine Small	intestine
33	chr1:214782000-214803800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:214782600-214784600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:214782600-214784800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:214782800-214792800	Weak transcription	Thymus	Thymus
37	chr1:214782800-214794000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:214783000-214785000	Weak transcription	Dnd41	blood
39	chr1:214783000-214788600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:214783000-214788800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:214783200-214785600	Weak transcription	Fetal Thymus	thymus
42	chr1:214783200-214785600	Weak transcription	K562	blood
43	chr1:214783200-214786600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:214783200-214786600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:214783200-214788000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:214783200-214788400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:214783200-214788800	Weak transcription	GM12878-XiMat	blood
48	chr1:214783200-214790600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:214783200-214790600	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:214783200-214794000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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