Variant report

Variant	rs12119411
Chromosome Location	chr1:86860894-86860895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86854491..86856100-chr1:86858979..86861323,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10493790	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11161810	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11161812	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11161814	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11161816	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11161817	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1158833	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1182098	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1182099	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1182101	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12123660	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12125965	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12130284	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12145243	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12403033	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12406320	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1413431	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1413432	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17409213	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17409304	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17449526	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1931360	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1931361	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1931362	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs272488	0.92[ASN][1000 genomes]
rs272489	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs272490	0.94[ASN][1000 genomes]
rs272493	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272495	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272496	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272497	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272499	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272500	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs272501	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272505	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272506	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs272509	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272512	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272514	0.89[EUR][1000 genomes]
rs272515	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272518	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35489949	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3737673	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3765983	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs421105	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs423991	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5026277	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56104000	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56408800	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57210989	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61124915	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72720129	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs977919	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[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	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86844800-86861000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:86848800-86861000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:86855800-86861000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:86857200-86861000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:86858800-86861000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:86859000-86861200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:86859200-86861000	Enhancers	Fetal Stomach	stomach
8	chr1:86859400-86861400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr1:86859600-86861000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:86859600-86861000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:86859600-86862800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:86859800-86861000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:86859800-86862200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:86859800-86862400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:86859800-86862800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:86860000-86861000	Weak transcription	Brain Substantia Nigra	brain
17	chr1:86860200-86861000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:86860200-86862400	Active TSS	HMEC	breast
19	chr1:86860200-86862600	Active TSS	NHLF	lung
20	chr1:86860200-86862800	Active TSS	Right Atrium	heart
21	chr1:86860400-86861000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:86860400-86861400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:86860400-86862400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:86860400-86862400	Active TSS	NHDF-Ad	bronchial
25	chr1:86860400-86862600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:86860600-86861200	Flanking Active TSS	HSMM	muscle
27	chr1:86860600-86862600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:86860800-86861000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:86860800-86861000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:86860800-86861000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:86860800-86861000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:86860800-86861000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:86860800-86861000	Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr1:86860800-86861000	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:86860800-86861000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:86860800-86861000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr1:86860800-86861000	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr1:86860800-86861000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:86860800-86861000	Enhancers	Liver	Liver
40	chr1:86860800-86861000	Active TSS	Brain Anterior Caudate	brain
41	chr1:86860800-86861000	Active TSS	Brain Germinal Matrix	brain
42	chr1:86860800-86861000	Active TSS	Brain Hippocampus Middle	brain
43	chr1:86860800-86861000	Active TSS	Duodenum Mucosa	Duodenum
44	chr1:86860800-86861000	Enhancers	Fetal Heart	heart
45	chr1:86860800-86861000	Enhancers	Fetal Muscle Leg	muscle
46	chr1:86860800-86861000	Enhancers	Right Ventricle	heart
47	chr1:86860800-86861000	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr1:86860800-86861000	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr1:86860800-86861000	Flanking Active TSS	Thymus	Thymus
50	chr1:86860800-86861000	Flanking Active TSS	A549	lung

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