Variant report

Variant	rs4277293
Chromosome Location	chr15:58991474-58991475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58990755..58993550-chr15:58994892..58997699,2	K562	blood:

Variant related genes	Relation type
ENSG00000199730	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs16940570	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940574	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940584	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940586	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940602	0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940614	0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940638	1.00[EUR][1000 genomes]
rs16940723	0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940751	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs16940766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16953381	0.95[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2013878	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs2414609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939313	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56039925	0.84[AFR][1000 genomes];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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57083702	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57845422	1.00[EUR][1000 genomes]
rs58667875	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58937576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61678411	1.00[EUR][1000 genomes]
rs6494024	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7163948	1.00[EUR][1000 genomes]
rs7164104	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7166901	0.95[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7167240	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168066	1.00[EUR][1000 genomes]
rs7172673	1.00[EUR][1000 genomes]
rs7173048	1.00[EUR][1000 genomes]
rs7174279	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7175610	0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7176715	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7183811	1.00[AMR][1000 genomes]
rs74016920	1.00[EUR][1000 genomes]
rs74016943	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016946	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016947	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017259	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017261	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017264	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017265	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017270	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74017281	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74017286	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74017293	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017296	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017297	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017298	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017300	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017301	1.00[EUR][1000 genomes]
rs74017302	0.83[AFR][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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8028872	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8029869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031250	0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031412	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8032451	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8033613	1.00[EUR][1000 genomes]
rs8043275	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs881117	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58977200-58996400	Weak transcription	NHLF	lung
2	chr15:58977200-58998200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:58977200-59004400	Weak transcription	Ovary	ovary
4	chr15:58977200-59007800	Weak transcription	HepG2	liver
5	chr15:58977200-59039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:58982400-59005000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:58982600-59008000	Weak transcription	Fetal Brain Male	brain
8	chr15:58983200-59016600	Weak transcription	Small Intestine	intestine
9	chr15:58983800-58991600	Weak transcription	Esophagus	oesophagus
10	chr15:58983800-58991800	Weak transcription	Aorta	Aorta
11	chr15:58985200-59005000	Weak transcription	HSMMtube	muscle
12	chr15:58985400-58992200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr15:58985400-58993400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr15:58985600-58995600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:58986600-59016600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr15:58986800-58992800	Weak transcription	Osteobl	bone
17	chr15:58987400-58991800	Weak transcription	NHEK	skin
18	chr15:58987400-58993600	Weak transcription	Brain Angular Gyrus	brain
19	chr15:58987400-59012000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:58987600-58995800	Weak transcription	Hela-S3	cervix
21	chr15:58987600-59005000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr15:58987600-59007800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:58988600-58991600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:58989000-58991600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:58989000-58992000	Genic enhancers	Fetal Thymus	thymus
26	chr15:58989000-58992400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:58989000-58997200	ZNF genes & repeats	GM12878-XiMat	blood
28	chr15:58989400-58996000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr15:58989600-58992000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:58989600-58993200	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr15:58989800-58992800	ZNF genes & repeats	A549	lung
32	chr15:58989800-58994200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:58989800-59016800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:58990000-58994000	Weak transcription	Psoas Muscle	Psoas
35	chr15:58990000-58994600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr15:58990000-58996000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:58990000-58996000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:58990000-58996200	Weak transcription	Right Atrium	heart
39	chr15:58990000-58997600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:58990000-58998400	Weak transcription	Gastric	stomach
41	chr15:58990000-58998400	Weak transcription	Right Ventricle	heart
42	chr15:58990000-58998800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:58990000-59004800	Weak transcription	Pancreas	Pancrea
44	chr15:58990000-59005000	Weak transcription	Spleen	Spleen
45	chr15:58990000-59005200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:58990000-59023400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:58990200-58991600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:58990200-58991600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr15:58990200-58991600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr15:58990200-58992400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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