Variant report

Variant	rs60378247
Chromosome Location	chr15:76201621-76201622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:76201601-76201935	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr15:76200985-76201993	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:76195364..76197764-chr15:76200093..76201997,3	K562	blood:
2	chr15:76197876..76200191-chr15:76201024..76203742,3	K562	blood:
3	chr15:76179685..76181538-chr15:76200237..76202606,2	K562	blood:
4	chr15:76105956..76108257-chr15:76199424..76201843,2	K562	blood:
5	chr15:76197909..76200277-chr15:76201455..76203414,2	MCF-7	breast:
6	chr15:76199053..76202024-chr15:76204080..76208580,4	K562	blood:

No data

Variant related genes	Relation type
FBXO22	TF binding region
ENSG00000167196	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10152136	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10152476	1.00[AMR][1000 genomes]
rs10152926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12324675	1.00[AMR][1000 genomes]
rs1910511	1.00[AMR][1000 genomes]
rs2675219	1.00[AMR][1000 genomes]
rs28431332	1.00[AMR][1000 genomes]
rs28517446	1.00[AMR][1000 genomes]
rs2955755	1.00[AMR][1000 genomes]
rs334932	1.00[AMR][1000 genomes]
rs56670053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57021331	1.00[AMR][1000 genomes]
rs57509763	1.00[AMR][1000 genomes]
rs58897892	1.00[AMR][1000 genomes]
rs60841857	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60882949	1.00[AMR][1000 genomes]
rs60973512	1.00[AMR][1000 genomes]
rs61710441	1.00[AMR][1000 genomes]
rs8024490	1.00[AMR][1000 genomes]
rs8027221	1.00[AMR][1000 genomes]
rs8029590	1.00[AMR][1000 genomes]
rs8040692	1.00[AMR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76197000-76205800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:76197000-76206200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:76197000-76210800	Weak transcription	Aorta	Aorta
4	chr15:76197000-76214600	Weak transcription	Small Intestine	intestine
5	chr15:76197200-76202200	Weak transcription	Fetal Lung	lung
6	chr15:76197200-76205400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr15:76197200-76205400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr15:76197200-76205400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr15:76197200-76205400	Weak transcription	Brain Germinal Matrix	brain
10	chr15:76197200-76205400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:76197200-76205600	Weak transcription	Ovary	ovary
12	chr15:76197200-76206000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr15:76197200-76206000	Weak transcription	Brain Angular Gyrus	brain
14	chr15:76197200-76206200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr15:76197200-76206600	Weak transcription	Thymus	Thymus
16	chr15:76197200-76216800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:76197200-76216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:76197600-76202400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr15:76197600-76205600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr15:76197600-76206000	Weak transcription	Brain Substantia Nigra	brain
21	chr15:76197600-76210200	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:76197800-76202600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:76197800-76202600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:76197800-76203400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr15:76197800-76205600	Weak transcription	Brain Anterior Caudate	brain
26	chr15:76197800-76205600	Weak transcription	Spleen	Spleen
27	chr15:76197800-76205800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:76197800-76206600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr15:76197800-76206800	Weak transcription	Lung	lung
30	chr15:76197800-76214400	Weak transcription	Stomach Mucosa	stomach
31	chr15:76197800-76217400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr15:76198000-76202800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr15:76198000-76203600	Weak transcription	Fetal Brain Female	brain
34	chr15:76198000-76205400	Weak transcription	Colon Smooth Muscle	Colon
35	chr15:76198000-76205600	Weak transcription	Colonic Mucosa	Colon
36	chr15:76198000-76205600	Weak transcription	HUVEC	blood vessel
37	chr15:76198000-76205800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr15:76198000-76206800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:76198000-76206800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr15:76198000-76214400	Weak transcription	Esophagus	oesophagus
41	chr15:76198000-76214400	Weak transcription	Pancreas	Pancrea
42	chr15:76198000-76214600	Weak transcription	Right Ventricle	heart
43	chr15:76198000-76231600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:76198200-76202200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr15:76198200-76202200	Strong transcription	A549	lung
46	chr15:76198200-76205400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr15:76198200-76206000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr15:76198200-76206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:76198200-76208000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:76198200-76232200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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