Variant report

Variant	rs1823697
Chromosome Location	chr15:58819228-58819229
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58818144..58821107-chr15:58827941..58830725,2	K562	blood:
2	chr15:58800980..58802725-chr15:58817478..58819244,2	K562	blood:
3	chr15:58816638..58820223-chr15:58821126..58823355,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12898984	1.00[YRI][hapmap]
rs12900448	1.00[YRI][hapmap]
rs1823698	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1839929	1.00[YRI][hapmap]
rs1968688	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1968690	1.00[YRI][hapmap]
rs2034613	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2414580	1.00[AMR][1000 genomes]
rs261340	1.00[AMR][1000 genomes]
rs2899631	1.00[YRI][hapmap]
rs4503731	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4775068	1.00[YRI][hapmap]
rs504846	1.00[AMR][1000 genomes]
rs7165736	1.00[AMR][1000 genomes]
rs7167672	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7180936	1.00[YRI][hapmap]
rs73420505	1.00[AMR][1000 genomes]
rs8029789	1.00[AMR][1000 genomes]
rs8037479	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1043041	chr15:58744505-58876327	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv569601	chr15:58800766-58866156	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58807800-58820200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:58814600-58819400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:58814600-58819600	Weak transcription	Fetal Kidney	kidney
4	chr15:58815000-58819400	Weak transcription	Lung	lung
5	chr15:58815000-58819600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:58815200-58820000	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:58815400-58819600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:58815400-58820000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:58815400-58820800	Weak transcription	Spleen	Spleen
10	chr15:58815600-58820800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:58815600-58821000	Weak transcription	NHEK	skin
12	chr15:58815800-58820000	Weak transcription	Psoas Muscle	Psoas
13	chr15:58816000-58820200	Enhancers	A549	lung
14	chr15:58816200-58820000	Enhancers	Liver	Liver
15	chr15:58816800-58819600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr15:58817400-58820000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr15:58817600-58820000	Enhancers	HepG2	liver
18	chr15:58817600-58821600	Enhancers	Right Ventricle	heart
19	chr15:58817600-58822000	Enhancers	Pancreas	Pancrea
20	chr15:58817800-58819400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr15:58818000-58821400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:58818000-58821400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:58818000-58825200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr15:58818200-58821200	Enhancers	Left Ventricle	heart
25	chr15:58818200-58821600	Enhancers	Right Atrium	heart
26	chr15:58818400-58821600	Enhancers	Adipose Nuclei	Adipose
27	chr15:58818600-58819400	Weak transcription	Primary B cells from cord blood	blood
28	chr15:58818600-58819600	Weak transcription	Brain Substantia Nigra	brain
29	chr15:58818600-58821200	Enhancers	Gastric	stomach
30	chr15:58818600-58822600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:58818800-58819800	Weak transcription	NHDF-Ad	bronchial
32	chr15:58818800-58820000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr15:58818800-58821000	Weak transcription	Aorta	Aorta
34	chr15:58819000-58819800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr15:58819000-58820800	Enhancers	Fetal Intestine Large	intestine
36	chr15:58819000-58821000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr15:58819000-58821000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr15:58819000-58821600	Enhancers	Stomach Mucosa	stomach
39	chr15:58819200-58819600	Weak transcription	Ovary	ovary
40	chr15:58819200-58819800	Enhancers	Esophagus	oesophagus
41	chr15:58819200-58820400	Enhancers	Fetal Intestine Small	intestine
42	chr15:58819200-58821400	Enhancers	Duodenum Mucosa	Duodenum
43	chr15:58819200-58821400	Enhancers	Placenta	Placenta
44	chr15:58819200-58821400	Enhancers	Rectal Mucosa Donor 31	rectum

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