Variant report

Variant	rs73394720
Chromosome Location	chr15:40887098-40887099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40856304..40858832-chr15:40886132..40888060,2	K562	blood:
2	chr15:40885583..40887494-chr15:40985320..40988301,2	K562	blood:
3	chr15:40886701..40889426-chr15:40891344..40893759,6	K562	blood:
4	chr15:40884808..40888126-chr15:40896275..40900248,4	K562	blood:
5	chr15:40763032..40765951-chr15:40886754..40888811,2	K562	blood:
6	chr15:40854296..40857804-chr15:40884735..40887632,3	K562	blood:
7	chr15:40884637..40889853-chr15:40895293..40899936,6	K562	blood:

Variant related genes	Relation type
ENSG00000245849	Chromatin interaction
ENSG00000128891	Chromatin interaction
ENSG00000051180	Chromatin interaction
ENSG00000169105	Chromatin interaction
ENSG00000238559	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs58511821	1.00[AMR][1000 genomes]
rs60063059	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60566163	1.00[AMR][1000 genomes]
rs73394717	1.00[AFR][1000 genomes]
rs73394719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394739	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394763	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394793	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396506	1.00[AMR][1000 genomes]
rs73396508	1.00[AMR][1000 genomes]
rs8027048	0.88[AFR][1000 genomes];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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40885600-40887200	Active TSS	Fetal Brain Male	brain
2	chr15:40885600-40887400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:40885600-40887400	Active TSS	Fetal Kidney	kidney
4	chr15:40885600-40888200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:40885600-40888200	Active TSS	NHDF-Ad	bronchial
6	chr15:40885600-40888400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:40885800-40887200	Active TSS	Monocytes-CD14+_RO01746	blood
8	chr15:40885800-40887400	Active TSS	Fetal Thymus	thymus
9	chr15:40885800-40887800	Active TSS	K562	blood
10	chr15:40885800-40888000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr15:40885800-40888000	Active TSS	Thymus	Thymus
12	chr15:40885800-40888400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:40886000-40887200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:40886000-40887200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:40886000-40887200	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr15:40886000-40887200	Active TSS	Brain Angular Gyrus	brain
17	chr15:40886000-40887200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr15:40886000-40887200	Active TSS	Esophagus	oesophagus
19	chr15:40886000-40887200	Active TSS	Fetal Intestine Small	intestine
20	chr15:40886000-40887200	Active TSS	Fetal Lung	lung
21	chr15:40886000-40887200	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr15:40886000-40887400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr15:40886000-40887400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr15:40886000-40887400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr15:40886000-40887400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:40886000-40887400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:40886000-40887400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:40886000-40887400	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr15:40886000-40887400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr15:40886000-40887400	Active TSS	Dnd41	blood
31	chr15:40886000-40887400	Active TSS	Osteobl	bone
32	chr15:40886000-40887600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr15:40886000-40887600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:40886000-40887600	Active TSS	Duodenum Mucosa	Duodenum
35	chr15:40886000-40887600	Active TSS	Fetal Muscle Trunk	muscle
36	chr15:40886000-40887600	Active TSS	Placenta	Placenta
37	chr15:40886000-40887800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr15:40886000-40887800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:40886000-40887800	Active TSS	Fetal Muscle Leg	muscle
40	chr15:40886000-40888000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:40886000-40888000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:40886000-40888000	Active TSS	Colonic Mucosa	Colon
43	chr15:40886000-40888000	Active TSS	GM12878-XiMat	blood
44	chr15:40886000-40888000	Active TSS	Hela-S3	cervix
45	chr15:40886000-40888000	Active TSS	HSMM	muscle
46	chr15:40886000-40888200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:40886000-40888200	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr15:40886000-40888200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:40886000-40888200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:40886000-40888200	Active TSS	Fetal Brain Female	brain

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