Variant report

Variant	rs4886466
Chromosome Location	chr15:76200304-76200305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76195364..76197764-chr15:76200093..76201997,3	K562	blood:
2	chr15:76134186..76138083-chr15:76192925..76200499,13	K562	blood:
3	chr15:76179685..76181538-chr15:76200237..76202606,2	K562	blood:
4	chr15:76105956..76108257-chr15:76199424..76201843,2	K562	blood:
5	chr15:76198411..76200374-chr15:76209786..76212677,2	K562	blood:
6	chr15:76199053..76202024-chr15:76204080..76208580,4	K562	blood:

Variant related genes	Relation type
ENSG00000140367	Chromatin interaction
ENSG00000167196	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10444856	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10851884	0.86[EUR][1000 genomes]
rs11072562	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11072566	0.86[EUR][1000 genomes]
rs11072567	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11636251	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12437816	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593806	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1874953	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1976748	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2047866	0.88[EUR][1000 genomes]
rs2201917	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28525382	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28550045	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs28607641	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs335685	0.91[EUR][1000 genomes]
rs4886748	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886755	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7177266	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8027685	0.81[EUR][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	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1044733	chr15:76120924-76228880	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1053717	chr15:76196674-76314542	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1040053	chr15:76197988-76314542	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76197000-76200600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:76197000-76200600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:76197000-76200600	Weak transcription	Left Ventricle	heart
4	chr15:76197000-76205800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:76197000-76206200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr15:76197000-76210800	Weak transcription	Aorta	Aorta
7	chr15:76197000-76214600	Weak transcription	Small Intestine	intestine
8	chr15:76197200-76200600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:76197200-76200600	Weak transcription	Fetal Intestine Small	intestine
10	chr15:76197200-76202200	Weak transcription	Fetal Lung	lung
11	chr15:76197200-76205400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr15:76197200-76205400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr15:76197200-76205400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:76197200-76205400	Weak transcription	Brain Germinal Matrix	brain
15	chr15:76197200-76205400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:76197200-76205600	Weak transcription	Ovary	ovary
17	chr15:76197200-76206000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr15:76197200-76206000	Weak transcription	Brain Angular Gyrus	brain
19	chr15:76197200-76206200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr15:76197200-76206600	Weak transcription	Thymus	Thymus
21	chr15:76197200-76216800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:76197200-76216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:76197600-76201600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:76197600-76202400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr15:76197600-76205600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr15:76197600-76206000	Weak transcription	Brain Substantia Nigra	brain
27	chr15:76197600-76210200	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:76197800-76200600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:76197800-76200800	Weak transcription	Adipose Nuclei	Adipose
30	chr15:76197800-76200800	Weak transcription	Fetal Heart	heart
31	chr15:76197800-76202600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:76197800-76202600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:76197800-76203400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:76197800-76205600	Weak transcription	Brain Anterior Caudate	brain
35	chr15:76197800-76205600	Weak transcription	Spleen	Spleen
36	chr15:76197800-76205800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:76197800-76206600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:76197800-76206800	Weak transcription	Lung	lung
39	chr15:76197800-76214400	Weak transcription	Stomach Mucosa	stomach
40	chr15:76197800-76217400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:76198000-76200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:76198000-76201000	Strong transcription	NH-A	brain
43	chr15:76198000-76201400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr15:76198000-76201600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:76198000-76202800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr15:76198000-76203600	Weak transcription	Fetal Brain Female	brain
47	chr15:76198000-76205400	Weak transcription	Colon Smooth Muscle	Colon
48	chr15:76198000-76205600	Weak transcription	Colonic Mucosa	Colon
49	chr15:76198000-76205600	Weak transcription	HUVEC	blood vessel
50	chr15:76198000-76205800	Weak transcription	Rectal Mucosa Donor 31	rectum

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