Variant report

Variant	rs16940771
Chromosome Location	chr15:59066335-59066336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59002723..59004883-chr15:59065189..59066915,2	K562	blood:
2	chr15:59040077..59045685-chr15:59061303..59067063,14	K562	blood:
3	chr15:59064062..59066974-chr15:59068078..59069600,2	MCF-7	breast:
4	chr15:59065749..59068993-chr15:59071498..59074723,3	K562	blood:

Variant related genes	Relation type
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs16940570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940638	1.00[EUR][1000 genomes]
rs16940723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940751	0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16940766	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940768	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16953381	1.00[AMR][1000 genomes]
rs2414609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4277293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56039925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56357958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56935364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56942476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57083702	1.00[EUR][1000 genomes]
rs57845422	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58667875	1.00[AMR][1000 genomes]
rs58937576	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61678411	1.00[EUR][1000 genomes]
rs6494024	1.00[EUR][1000 genomes]
rs7163948	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7164104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7166901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7167240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168066	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7172673	1.00[EUR][1000 genomes]
rs7173048	1.00[EUR][1000 genomes]
rs7174279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7175610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7176715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7183811	1.00[AMR][1000 genomes]
rs74016920	1.00[EUR][1000 genomes]
rs74016943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017270	1.00[EUR][1000 genomes]
rs74017281	1.00[EUR][1000 genomes]
rs74017286	1.00[EUR][1000 genomes]
rs74017293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017301	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74018920	1.00[EUR][1000 genomes]
rs74021007	1.00[AMR][1000 genomes]
rs74021013	1.00[AMR][1000 genomes]
rs8025475	1.00[EUR][1000 genomes]
rs8027618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8028872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8029869	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8032451	1.00[EUR][1000 genomes]
rs8033613	1.00[EUR][1000 genomes]
rs8043275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs881117	1.00[AMR][1000 genomes];1.00[EUR][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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59062200-59067800	Active TSS	GM12878-XiMat	blood
2	chr15:59062400-59066400	Active TSS	Right Ventricle	heart
3	chr15:59062400-59066600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr15:59062400-59067400	Active TSS	Right Atrium	heart
5	chr15:59062400-59067800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:59062600-59066400	Active TSS	Ovary	ovary
7	chr15:59062800-59066800	Active TSS	NHDF-Ad	bronchial
8	chr15:59062800-59067000	Active TSS	Stomach Smooth Muscle	stomach
9	chr15:59063000-59067400	Active TSS	NHEK	skin
10	chr15:59064200-59066400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr15:59064600-59067200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr15:59064600-59069000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:59064600-59081000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:59064600-59085000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:59064600-59102800	Weak transcription	Lung	lung
16	chr15:59064600-59102800	Weak transcription	Pancreas	Pancrea
17	chr15:59064600-59103200	Weak transcription	Esophagus	oesophagus
18	chr15:59064600-59145600	Weak transcription	Gastric	stomach
19	chr15:59064800-59066400	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr15:59064800-59066400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr15:59064800-59066600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr15:59064800-59067200	Enhancers	Primary B cells from peripheral blood	blood
23	chr15:59064800-59067600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr15:59064800-59095400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr15:59065000-59066400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:59065000-59066400	Flanking Active TSS	K562	blood
27	chr15:59065000-59069000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr15:59065200-59066400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:59065200-59066600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:59065200-59067000	Enhancers	Liver	Liver
31	chr15:59065200-59067200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr15:59065200-59069600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr15:59065200-59117800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:59065400-59066400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:59065400-59066400	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr15:59065400-59066600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:59065400-59066600	Flanking Active TSS	HepG2	liver
38	chr15:59065400-59068000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr15:59065600-59066400	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr15:59065600-59066400	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr15:59065600-59066400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr15:59065600-59066400	Flanking Active TSS	HMEC	breast
43	chr15:59065600-59066600	Enhancers	Spleen	Spleen
44	chr15:59065600-59068600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr15:59065600-59082600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr15:59065800-59066400	Active TSS	Fetal Brain Female	brain
47	chr15:59065800-59066400	Enhancers	HUVEC	blood vessel
48	chr15:59065800-59066600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr15:59065800-59066800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr15:59065800-59067000	Enhancers	Rectal Smooth Muscle	rectum

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