Variant report

Variant	rs8039750
Chromosome Location	chr15:58953369-58953370
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58953177..58955880-chr15:58958454..58961862,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12102264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12591291	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs16940594	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs16940629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.90[ASN][1000 genomes]
rs16940682	1.00[CEU][hapmap]
rs16940684	1.00[CEU][hapmap]
rs16940725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs17236229	1.00[JPT][hapmap]
rs28420235	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56044573	0.88[ASN][1000 genomes]
rs56063727	0.90[ASN][1000 genomes]
rs57887445	0.90[ASN][1000 genomes]
rs59962817	0.82[ASN][1000 genomes]
rs60944445	0.92[ASN][1000 genomes]
rs7162921	1.00[JPT][hapmap]
rs7168421	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap]
rs7172364	1.00[CEU][hapmap]
rs7176539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap]
rs7180487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7181998	1.00[TSI][hapmap]
rs720273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap]
rs74017263	0.96[ASN][1000 genomes]
rs74017267	0.92[ASN][1000 genomes]
rs74017282	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74017291	0.90[ASN][1000 genomes]
rs8026646	1.00[CEU][hapmap]
rs8027622	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs8028647	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv904269	chr15:58906145-58992591	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv569602	chr15:58914326-58964437	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58891400-58959600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr15:58905000-58983200	Weak transcription	Esophagus	oesophagus
3	chr15:58905400-58971800	Weak transcription	Spleen	Spleen
4	chr15:58905600-58976400	Weak transcription	Gastric	stomach
5	chr15:58906400-58976400	Weak transcription	Small Intestine	intestine
6	chr15:58911600-58958000	Weak transcription	Fetal Brain Female	brain
7	chr15:58914200-58957600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:58914600-58957000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr15:58917000-58959600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:58919800-58959200	Weak transcription	Brain Germinal Matrix	brain
11	chr15:58920200-58957200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:58921000-58957600	Weak transcription	Colonic Mucosa	Colon
13	chr15:58921200-58959600	Weak transcription	Aorta	Aorta
14	chr15:58921200-58968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr15:58921600-58959200	Weak transcription	NHLF	lung
16	chr15:58921600-58976600	Weak transcription	Right Ventricle	heart
17	chr15:58921800-58970400	Weak transcription	Stomach Mucosa	stomach
18	chr15:58922200-58959000	Weak transcription	HUVEC	blood vessel
19	chr15:58923400-58971800	Weak transcription	Pancreas	Pancrea
20	chr15:58923400-58982800	Weak transcription	Lung	lung
21	chr15:58924000-58960000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:58926400-58957600	Weak transcription	Brain Substantia Nigra	brain
23	chr15:58927000-58956600	Weak transcription	Ovary	ovary
24	chr15:58933000-58987000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:58933400-58954800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr15:58933400-58955600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:58933400-58956000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr15:58933600-58959000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr15:58934200-58954800	Weak transcription	Osteobl	bone
30	chr15:58934200-58957600	Weak transcription	Brain Angular Gyrus	brain
31	chr15:58934200-58957800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr15:58934200-58958200	Weak transcription	Colon Smooth Muscle	Colon
33	chr15:58934200-58976400	Weak transcription	Psoas Muscle	Psoas
34	chr15:58936000-58977000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr15:58936200-58954200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:58936200-58991400	Weak transcription	HMEC	breast
37	chr15:58942800-58956000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:58942800-58957400	Weak transcription	Brain Hippocampus Middle	brain
39	chr15:58943600-58954400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:58945600-58959400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr15:58945800-58958200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:58946000-58956800	Strong transcription	Primary B cells from cord blood	blood
43	chr15:58946000-58957600	Strong transcription	HSMM	muscle
44	chr15:58946400-58957400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr15:58946400-58958200	Strong transcription	Liver	Liver
46	chr15:58946400-58958600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:58947000-58956800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr15:58947000-58958400	Strong transcription	Dnd41	blood
49	chr15:58947000-58959000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:58947200-58959600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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