Variant report

Variant	rs28493313
Chromosome Location	chr15:72302956-72302957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72284044..72286331-chr15:72302500..72304124,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12101457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12101672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28368570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28375199	1.00[AMR][1000 genomes]
rs28415882	1.00[AMR][1000 genomes]
rs28446198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28475439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28478343	1.00[AMR][1000 genomes]
rs28526815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28547469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28564635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28613926	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28627195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28636457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28748021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28758400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28805409	1.00[EUR][1000 genomes]
rs28897422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764190	0.85[AMR][1000 genomes]
rs56087519	1.00[AMR][1000 genomes]
rs8192417	1.00[AMR][1000 genomes]
rs8192427	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv516871	chr15:72126034-72325595	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv904336	chr15:72145937-72329906	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv569911	chr15:72203517-72305982	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv457198	chr15:72203517-72325595	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv569912	chr15:72203517-72325595	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv457200	chr15:72261385-72325595	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv569914	chr15:72261385-72325595	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
13	nsv569915	chr15:72267164-72307691	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv569916	chr15:72268986-72325595	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv457201	chr15:72284647-72329906	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv569917	chr15:72284647-72329906	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72225000-72305200	Weak transcription	Psoas Muscle	Psoas
2	chr15:72225000-72305600	Weak transcription	Gastric	stomach
3	chr15:72226800-72343600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr15:72227800-72326200	Weak transcription	Fetal Brain Male	brain
5	chr15:72261000-72326200	Weak transcription	NH-A	brain
6	chr15:72266400-72323000	Weak transcription	Lung	lung
7	chr15:72266600-72315000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:72268600-72308200	Weak transcription	Right Ventricle	heart
9	chr15:72268600-72313200	Weak transcription	HMEC	breast
10	chr15:72272000-72323200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:72277200-72325800	Weak transcription	Fetal Heart	heart
12	chr15:72280200-72338800	Weak transcription	Hela-S3	cervix
13	chr15:72280400-72303800	Weak transcription	GM12878-XiMat	blood
14	chr15:72280800-72318200	Weak transcription	Pancreas	Pancrea
15	chr15:72282000-72311200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr15:72282000-72341800	Weak transcription	Brain Angular Gyrus	brain
17	chr15:72282200-72314200	Weak transcription	NHEK	skin
18	chr15:72282200-72337800	Weak transcription	Esophagus	oesophagus
19	chr15:72282200-72338800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:72282400-72325800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr15:72282400-72326200	Weak transcription	Fetal Brain Female	brain
22	chr15:72282400-72329000	Weak transcription	Brain Germinal Matrix	brain
23	chr15:72282600-72315800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr15:72282600-72332000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:72282800-72323000	Weak transcription	Thymus	Thymus
26	chr15:72282800-72325800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:72282800-72347000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:72282800-72349800	Weak transcription	Brain Hippocampus Middle	brain
29	chr15:72283000-72305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr15:72283000-72309400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:72283600-72329600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr15:72284200-72326400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:72288400-72314800	Strong transcription	Placenta	Placenta
34	chr15:72289200-72337800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr15:72290000-72303000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr15:72290000-72316600	Weak transcription	Fetal Stomach	stomach
37	chr15:72290800-72305400	Weak transcription	Primary T cells from cord blood	blood
38	chr15:72291000-72325800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:72291800-72323200	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:72292200-72338200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr15:72292400-72326000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:72295400-72337800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:72297600-72314000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:72297800-72303000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:72298400-72344000	Weak transcription	Spleen	Spleen
46	chr15:72298600-72315000	Weak transcription	Fetal Intestine Small	intestine
47	chr15:72298800-72325400	Weak transcription	Left Ventricle	heart
48	chr15:72299200-72303000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:72299400-72315600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:72299400-72325600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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