Variant report

Variant	rs17816441
Chromosome Location	chr15:33133423-33133424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:33130834-33134325	U87	brain:	n/a	n/a
2	POLR2A	chr15:33130274-33134725	U87	brain:	n/a	n/a
3	POLR2A	chr15:33130845-33134307	IMR90	lung:	n/a	n/a
4	POLR2A	chr15:33130210-33134725	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:33131473..33134242-chr15:33135502..33137920,3	K562	blood:

Variant related genes	Relation type
ENSG00000259392	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11638794	1.00[CHB][hapmap];0.91[GIH][hapmap]
rs17228864	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62001290	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8034124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.99[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	esv2422296	chr15:32798938-33221215	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv482680	chr15:32958401-33154005	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv832961	chr15:33021177-33134988	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv832962	chr15:33111517-33239736	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33061200-33141000	Weak transcription	Placenta	Placenta
2	chr15:33096200-33154000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr15:33096400-33159000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:33103800-33139200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:33118600-33159000	Weak transcription	Gastric	stomach
6	chr15:33127000-33141400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr15:33130000-33136200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:33130400-33133600	Enhancers	NH-A	brain
9	chr15:33130800-33142000	Weak transcription	Spleen	Spleen
10	chr15:33131200-33133800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:33131200-33153800	Weak transcription	Fetal Kidney	kidney
12	chr15:33131400-33134800	Weak transcription	Brain Germinal Matrix	brain
13	chr15:33131400-33139400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:33131600-33133600	Enhancers	A549	lung
15	chr15:33131600-33134200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:33131800-33136000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:33131800-33164800	Weak transcription	Pancreas	Pancrea
18	chr15:33132000-33135800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:33132000-33148600	Weak transcription	Stomach Mucosa	stomach
20	chr15:33132400-33154000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:33132800-33133600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:33132800-33154000	Weak transcription	Brain Angular Gyrus	brain
23	chr15:33133000-33133600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:33133000-33133600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr15:33133000-33134400	Enhancers	Osteobl	bone
26	chr15:33133000-33142200	Weak transcription	HSMMtube	muscle
27	chr15:33133000-33148200	Weak transcription	Esophagus	oesophagus
28	chr15:33133000-33150400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:33133200-33134600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr15:33133200-33139200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:33133400-33133600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:33133400-33133600	Flanking Active TSS	NHLF	lung
33	chr15:33133400-33133800	Weak transcription	HSMM	muscle
34	chr15:33133400-33133800	Enhancers	NHDF-Ad	bronchial
35	chr15:33133400-33142200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:33133400-33143400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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