Variant report

Variant	rs1665051
Chromosome Location	chr15:59295224-59295225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59288116..59291528-chr15:59295015..59297520,3	K562	blood:
2	chr15:59278836..59281901-chr15:59291877..59295229,4	K562	blood:
3	chr15:59287410..59289323-chr15:59293303..59295381,3	K562	blood:
4	chr15:59293658..59297788-chr15:59301854..59304801,3	K562	blood:

Variant related genes	Relation type
ENSG00000157450	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10431762	0.80[ASN][1000 genomes]
rs10431791	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10431792	0.82[ASN][1000 genomes]
rs10518996	0.84[ASW][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.81[ASN][1000 genomes]
rs10851643	0.85[CHD][hapmap];0.91[JPT][hapmap]
rs11071405	0.85[ASN][1000 genomes]
rs11635820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11852461	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11855536	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12050865	0.88[ASN][1000 genomes]
rs12101733	0.88[ASN][1000 genomes]
rs12437587	0.81[ASN][1000 genomes]
rs12438111	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12438128	0.86[ASN][1000 genomes]
rs12438208	0.82[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs12438962	0.85[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs12440692	0.85[CHD][hapmap];0.91[JPT][hapmap]
rs12441973	0.80[ASN][1000 genomes]
rs12442086	0.81[JPT][hapmap]
rs12442301	0.80[ASN][1000 genomes]
rs12906212	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs12913177	0.88[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12915899	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs1345116	1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs1374155	0.87[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs1374156	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1446237	0.87[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs1446238	0.82[ASN][1000 genomes]
rs1446239	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1446240	0.92[LWK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs1665049	0.83[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1665050	0.86[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1693532	0.89[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16940998	0.82[CHD][hapmap]
rs17236369	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17236383	0.87[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs17302142	0.82[ASN][1000 genomes]
rs17302163	0.81[ASN][1000 genomes]
rs17302191	0.85[JPT][hapmap]
rs1867757	0.81[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.81[ASN][1000 genomes]
rs1968606	0.88[ASN][1000 genomes]
rs1968607	0.88[ASN][1000 genomes]
rs1975534	0.84[ASN][1000 genomes]
rs2084161	0.87[CHD][hapmap]
rs2121236	0.90[JPT][hapmap];0.87[YRI][hapmap]
rs2289895	0.85[CHD][hapmap]
rs2414618	0.88[ASN][1000 genomes]
rs2592092	0.85[AFR][1000 genomes]
rs2899640	0.82[JPT][hapmap]
rs34718679	0.91[ASN][1000 genomes]
rs34977427	0.81[ASN][1000 genomes]
rs35066133	0.81[ASN][1000 genomes]
rs35210199	0.87[ASN][1000 genomes]
rs35658945	0.87[ASN][1000 genomes]
rs4218	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs4531679	0.84[ASW][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.88[YRI][hapmap]
rs4774320	0.87[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs4774321	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4775110	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4775111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs57557135	0.82[ASN][1000 genomes]
rs58335303	0.84[ASN][1000 genomes]
rs58417366	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs59540276	0.83[ASN][1000 genomes]
rs61022867	0.83[ASN][1000 genomes]
rs62002516	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62002543	0.80[ASN][1000 genomes]
rs62002544	0.80[ASN][1000 genomes]
rs6494054	0.84[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.92[ASN][1000 genomes]
rs6494064	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.88[YRI][hapmap];0.85[ASN][1000 genomes]
rs6494065	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6494069	0.84[ASW][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap]
rs7165028	0.84[ASN][1000 genomes]
rs7168102	0.94[ASN][1000 genomes]
rs7173135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7175215	0.87[ASN][1000 genomes]
rs7175246	0.92[ASN][1000 genomes]
rs7175490	0.87[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7176281	0.90[ASN][1000 genomes]
rs7176576	0.92[ASN][1000 genomes]
rs7178935	0.81[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs8025246	0.89[ASN][1000 genomes]
rs8026611	0.84[ASN][1000 genomes]
rs8027536	0.94[ASN][1000 genomes]
rs8028752	0.83[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.80[MEX][hapmap];0.90[ASN][1000 genomes]
rs8028764	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8029153	0.83[YRI][hapmap]
rs8029336	0.88[ASN][1000 genomes]
rs8030246	0.87[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs8030323	0.82[ASN][1000 genomes]
rs8031390	0.82[ASN][1000 genomes]
rs8037569	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8039514	0.82[JPT][hapmap]
rs8040456	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs8041221	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs8041704	0.85[ASN][1000 genomes]
rs8042516	0.88[CHD][hapmap];0.95[JPT][hapmap]
rs877269	0.82[JPT][hapmap]
rs9302206	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9788719	0.88[ASN][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	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
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59280800-59308800	Weak transcription	Esophagus	oesophagus
2	chr15:59280800-59327800	Weak transcription	Small Intestine	intestine
3	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:59281400-59305800	Weak transcription	Brain Substantia Nigra	brain
5	chr15:59281400-59323200	Weak transcription	Ovary	ovary
6	chr15:59281400-59347800	Weak transcription	Colonic Mucosa	Colon
7	chr15:59281600-59311000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:59281800-59297800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr15:59281800-59352200	Weak transcription	Aorta	Aorta
10	chr15:59281800-59353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr15:59282000-59305800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:59282000-59323000	Weak transcription	Fetal Lung	lung
13	chr15:59282000-59323200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:59282000-59323200	Weak transcription	Fetal Kidney	kidney
15	chr15:59282400-59296800	Weak transcription	NH-A	brain
16	chr15:59282400-59297400	Weak transcription	HMEC	breast
17	chr15:59282400-59305400	Weak transcription	Fetal Heart	heart
18	chr15:59282400-59308600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:59282400-59323200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:59282400-59323400	Weak transcription	NHLF	lung
21	chr15:59282600-59297600	Weak transcription	NHDF-Ad	bronchial
22	chr15:59282600-59306400	Weak transcription	Brain Angular Gyrus	brain
23	chr15:59282800-59297200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:59283600-59296200	Weak transcription	HepG2	liver
25	chr15:59283600-59305600	Weak transcription	Stomach Mucosa	stomach
26	chr15:59283800-59296400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr15:59283800-59297200	Weak transcription	NHEK	skin
28	chr15:59283800-59305600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr15:59283800-59313400	Weak transcription	Right Atrium	heart
30	chr15:59283800-59329000	Weak transcription	Pancreas	Pancrea
31	chr15:59283800-59344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
33	chr15:59284000-59296600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr15:59284000-59305600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr15:59284200-59299000	Weak transcription	Spleen	Spleen
36	chr15:59284400-59296200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr15:59284400-59297400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:59284400-59297800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr15:59284600-59298600	Weak transcription	Hela-S3	cervix
40	chr15:59284600-59305600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr15:59284600-59308800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:59284600-59323000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr15:59284800-59297800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:59284800-59308800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr15:59284800-59323000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:59285000-59296200	Weak transcription	Fetal Intestine Large	intestine
47	chr15:59285000-59296200	Weak transcription	Fetal Thymus	thymus
48	chr15:59285000-59308800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr15:59285000-59323000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:59285000-59328000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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