Variant report

Variant	rs384322
Chromosome Location	chr15:59080862-59080863
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11631244	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11631334	0.88[EUR][1000 genomes]
rs11632492	0.83[AMR][1000 genomes]
rs11638416	1.00[CEU][hapmap]
rs11639208	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs16940571	1.00[CEU][hapmap]
rs16940810	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17190720	0.88[EUR][1000 genomes]
rs2555787	0.91[AMR][1000 genomes]
rs2657126	0.91[AMR][1000 genomes]
rs347118	0.91[AMR][1000 genomes]
rs347119	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs347121	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs347122	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs387005	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs390390	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs415403	0.91[AMR][1000 genomes]
rs422259	0.83[YRI][hapmap]
rs424346	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs432978	0.81[AFR][1000 genomes]
rs437549	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs602921	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs625510	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs664783	0.94[EUR][1000 genomes]
rs678020	1.00[YRI][hapmap]
rs793417	1.00[CEU][hapmap];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer 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 target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59064600-59081000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:59064600-59085000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:59064600-59102800	Weak transcription	Lung	lung
4	chr15:59064600-59102800	Weak transcription	Pancreas	Pancrea
5	chr15:59064600-59103200	Weak transcription	Esophagus	oesophagus
6	chr15:59064600-59145600	Weak transcription	Gastric	stomach
7	chr15:59064800-59095400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr15:59065200-59117800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:59065600-59082600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:59065800-59082600	Weak transcription	Placenta	Placenta
11	chr15:59065800-59094600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:59065800-59095000	Weak transcription	Fetal Thymus	thymus
13	chr15:59065800-59102800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr15:59065800-59103200	Weak transcription	NH-A	brain
15	chr15:59065800-59142800	Weak transcription	Aorta	Aorta
16	chr15:59066000-59085200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:59066000-59095000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:59066000-59102400	Weak transcription	HSMM	muscle
19	chr15:59066200-59081600	Weak transcription	Fetal Muscle Leg	muscle
20	chr15:59066200-59084200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:59066200-59095000	Weak transcription	Osteobl	bone
22	chr15:59066200-59095600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:59066400-59084200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:59066400-59085200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:59066400-59091000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:59066400-59095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:59066400-59095000	Weak transcription	Fetal Intestine Large	intestine
28	chr15:59066600-59102400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr15:59067000-59082600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:59067000-59083600	Weak transcription	HMEC	breast
31	chr15:59067000-59094600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:59067000-59094800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr15:59067000-59102400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:59067000-59102800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr15:59067000-59102800	Weak transcription	NHDF-Ad	bronchial
36	chr15:59067000-59157800	Weak transcription	Hela-S3	cervix
37	chr15:59067200-59094800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr15:59067200-59095000	Weak transcription	Fetal Lung	lung
39	chr15:59067200-59103200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr15:59067400-59085400	Weak transcription	NHEK	skin
41	chr15:59067400-59102600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr15:59067400-59102800	Weak transcription	Brain Angular Gyrus	brain
43	chr15:59067400-59111400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr15:59067800-59094800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr15:59067800-59105000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr15:59068000-59082800	Weak transcription	Dnd41	blood
47	chr15:59068000-59086000	Weak transcription	Fetal Kidney	kidney
48	chr15:59068600-59085800	Weak transcription	HepG2	liver
49	chr15:59068600-59088000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:59068600-59090000	Weak transcription	Small Intestine	intestine

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