Variant report

Variant	rs9920650
Chromosome Location	chr15:55545632-55545633
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	CHD1	chr15:55545388-55546491	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:55542658..55546534-chr15:55547557..55552018,8	K562	blood:
2	chr15:55542912..55546349-chr15:55547649..55552018,4	K562	blood:
3	chr15:55532304..55535313-chr15:55545055..55548758,3	K562	blood:
4	chr15:55545068..55547245-chr15:55548982..55551880,2	MCF-7	breast:

Variant related genes	Relation type
RAB27A	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16976228	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16976231	0.88[AFR][1000 genomes]
rs2414405	0.91[AMR][1000 genomes]
rs28533779	0.91[AMR][1000 genomes]
rs28594400	0.91[AMR][1000 genomes]
rs59912005	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats 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
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv1049977	chr15:55502508-55555694	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1036924	chr15:55527874-55616480	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv569522	chr15:55532211-55611126	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv904241	chr15:55534342-55611126	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55490000-55562800	Weak transcription	Ovary	ovary
2	chr15:55514800-55560400	Weak transcription	Spleen	Spleen
3	chr15:55516000-55559600	Weak transcription	Fetal Stomach	stomach
4	chr15:55520800-55574800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:55522800-55547000	Weak transcription	GM12878-XiMat	blood
6	chr15:55538600-55549000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr15:55540600-55561200	Weak transcription	Esophagus	oesophagus
8	chr15:55541200-55549000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:55541400-55547200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr15:55541600-55545800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr15:55541800-55547800	Weak transcription	Left Ventricle	heart
12	chr15:55542000-55545800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:55542400-55547200	Weak transcription	Aorta	Aorta
14	chr15:55542400-55581000	Weak transcription	Fetal Intestine Small	intestine
15	chr15:55543400-55550600	Weak transcription	Fetal Kidney	kidney
16	chr15:55543600-55547000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr15:55543600-55547000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr15:55543600-55547000	Weak transcription	Fetal Lung	lung
19	chr15:55543600-55547400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:55543600-55547400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr15:55543600-55548400	Weak transcription	NHEK	skin
22	chr15:55543600-55559200	Weak transcription	Hela-S3	cervix
23	chr15:55543800-55547000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr15:55543800-55547200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr15:55543800-55547400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:55543800-55547600	Weak transcription	Fetal Thymus	thymus
27	chr15:55543800-55547600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr15:55543800-55559400	Weak transcription	Thymus	Thymus
29	chr15:55544200-55547000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:55544200-55547000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:55544400-55545800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr15:55544400-55547000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:55544400-55548400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:55544400-55558800	Weak transcription	Right Ventricle	heart
35	chr15:55544600-55546000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr15:55544600-55547000	Weak transcription	Primary T cells from cord blood	blood
37	chr15:55544600-55547200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:55544800-55546000	Enhancers	Primary hematopoietic stem cells	blood
39	chr15:55544800-55546200	Weak transcription	Gastric	stomach
40	chr15:55544800-55557800	Weak transcription	Pancreas	Pancrea
41	chr15:55545000-55546400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr15:55545000-55546600	Enhancers	HMEC	breast
43	chr15:55545000-55547200	Weak transcription	Liver	Liver
44	chr15:55545200-55545800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr15:55545200-55546400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:55545200-55546400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:55545200-55549000	Enhancers	Stomach Mucosa	stomach
48	chr15:55545200-55561000	Weak transcription	Lung	lung
49	chr15:55545400-55546000	Enhancers	Primary B cells from cord blood	blood
50	chr15:55545400-55546000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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