Variant report

Variant	rs28491813
Chromosome Location	chr15:43849414-43849415
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16943304	1.00[AFR][1000 genomes]
rs17724631	0.84[EUR][1000 genomes]
rs17782608	0.92[EUR][1000 genomes]
rs28379460	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28438815	0.87[EUR][1000 genomes]
rs28464256	0.84[EUR][1000 genomes]
rs28470226	0.96[EUR][1000 genomes]
rs28717706	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv437799	chr15:43784000-43989518	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv832988	chr15:43804641-43976862	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv428304	chr15:43823158-44008580	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
8	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
10	nsv428633	chr15:43823160-44008580	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1039949	chr15:43831879-43992646	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv2757598	chr15:43831923-44058634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	esv2761766	chr15:43834318-44014255	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv524910	chr15:43836478-43939642	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv904148	chr15:43836478-43961204	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
16	nsv904149	chr15:43836478-44011113	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv904150	chr15:43836478-44040965	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
18	nsv1039818	chr15:43845410-43988541	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	nsv1048041	chr15:43845410-43991014	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
20	esv2760393	chr15:43845422-44024490	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43818000-43852600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:43818200-43851600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr15:43823800-43852600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr15:43824800-43853000	Weak transcription	GM12878-XiMat	blood
5	chr15:43824800-43853200	Weak transcription	Hela-S3	cervix
6	chr15:43827200-43849800	Weak transcription	Colonic Mucosa	Colon
7	chr15:43827400-43852600	Weak transcription	Left Ventricle	heart
8	chr15:43827400-43854000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:43827600-43851200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:43827600-43851400	Weak transcription	Right Ventricle	heart
11	chr15:43827600-43851800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr15:43827600-43852800	Weak transcription	Lung	lung
13	chr15:43827600-43854000	Weak transcription	Aorta	Aorta
14	chr15:43827600-43855400	Weak transcription	Ovary	ovary
15	chr15:43827800-43849600	Weak transcription	Spleen	Spleen
16	chr15:43827800-43850000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:43827800-43850400	Weak transcription	Primary B cells from cord blood	blood
18	chr15:43827800-43850800	Weak transcription	Esophagus	oesophagus
19	chr15:43827800-43851600	Weak transcription	Thymus	Thymus
20	chr15:43827800-43852800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr15:43828000-43851400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr15:43829000-43850400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr15:43829000-43852600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:43837000-43851200	Strong transcription	Fetal Intestine Small	intestine
25	chr15:43837200-43851400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:43839800-43853000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:43840200-43852600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:43840200-43853200	Weak transcription	HMEC	breast
29	chr15:43840400-43851800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:43840800-43853200	Weak transcription	Psoas Muscle	Psoas
31	chr15:43841600-43850200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:43842000-43852600	Weak transcription	NHEK	skin
33	chr15:43842600-43851400	Weak transcription	Colon Smooth Muscle	Colon
34	chr15:43843200-43852600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:43843400-43852400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:43843400-43852600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:43845000-43850400	Weak transcription	Gastric	stomach
38	chr15:43845000-43852400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:43845200-43851200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:43845200-43851800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:43845400-43851400	Strong transcription	Brain Anterior Caudate	brain
42	chr15:43846600-43849600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:43846600-43850800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:43846800-43849600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr15:43846800-43851400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:43847200-43853000	Weak transcription	Fetal Muscle Leg	muscle
47	chr15:43847400-43851400	Weak transcription	Small Intestine	intestine
48	chr15:43848000-43850400	Weak transcription	Right Atrium	heart
49	chr15:43848000-43851000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:43848200-43849800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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