Variant report

Variant	rs74010796
Chromosome Location	chr15:40554854-40554855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40554698..40556971-chr15:40557750..40559311,2	K562	blood:

Variant related genes	Relation type
ENSG00000137843	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55738516	1.00[EUR][1000 genomes]
rs56874918	1.00[EUR][1000 genomes]
rs57314452	1.00[EUR][1000 genomes]
rs57767693	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57856697	1.00[EUR][1000 genomes]
rs7174686	1.00[EUR][1000 genomes]
rs7180770	1.00[EUR][1000 genomes]
rs73391360	1.00[EUR][1000 genomes]
rs73391377	1.00[EUR][1000 genomes]
rs74010790	1.00[EUR][1000 genomes]
rs74010791	1.00[EUR][1000 genomes]
rs74010792	1.00[EUR][1000 genomes]
rs74010793	1.00[EUR][1000 genomes]
rs74010794	1.00[EUR][1000 genomes]
rs8039484	1.00[EUR][1000 genomes]
rs8041180	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv904095	chr15:40525430-40591570	Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv471240	chr15:40528155-40595627	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	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
5	nsv904096	chr15:40550149-40604777	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40546000-40558400	Weak transcription	Brain Anterior Caudate	brain
2	chr15:40546000-40558600	Weak transcription	Brain Angular Gyrus	brain
3	chr15:40546000-40571800	Weak transcription	Right Ventricle	heart
4	chr15:40546200-40568200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr15:40546800-40559200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr15:40550000-40568000	Weak transcription	Spleen	Spleen
7	chr15:40550400-40555200	Weak transcription	HSMMtube	muscle
8	chr15:40550400-40566800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:40550800-40558200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:40551200-40558800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:40551400-40556600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:40551400-40558800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:40551400-40561600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr15:40551400-40571000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr15:40551600-40555000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:40551600-40555000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:40551600-40555000	Weak transcription	NH-A	brain
18	chr15:40551600-40555200	Weak transcription	Esophagus	oesophagus
19	chr15:40551600-40556600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:40551600-40557000	Weak transcription	Placenta	Placenta
21	chr15:40551600-40557200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:40551600-40557200	Weak transcription	HMEC	breast
23	chr15:40551600-40557600	Weak transcription	Pancreas	Pancrea
24	chr15:40551600-40558200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr15:40551600-40558600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr15:40551600-40560000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr15:40551600-40561800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr15:40552400-40555200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:40552600-40555000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr15:40553800-40558400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:40553800-40570400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:40554600-40555200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:40554600-40556400	Enhancers	Fetal Intestine Large	intestine
34	chr15:40554600-40557600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:40554600-40557800	Strong transcription	NHEK	skin
36	chr15:40554800-40555200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:40554800-40555200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:40554800-40555200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:40554800-40555600	Strong transcription	Gastric	stomach
40	chr15:40554800-40555800	Enhancers	HSMM	muscle
41	chr15:40554800-40555800	Enhancers	Osteobl	bone
42	chr15:40554800-40556000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:40554800-40556200	Genic enhancers	Fetal Intestine Small	intestine
44	chr15:40554800-40559000	Enhancers	Hela-S3	cervix
45	chr15:40554800-40559200	Weak transcription	Fetal Brain Female	brain

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