Variant report

Variant	rs2555356
Chromosome Location	chr15:59016431-59016432
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59006673..59008255-chr15:59014528..59016960,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10152558	0.86[JPT][hapmap]
rs11071398	0.89[YRI][hapmap]
rs11638244	0.87[YRI][hapmap]
rs11854073	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12439457	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12899638	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs12911832	0.84[ASN][1000 genomes]
rs12911961	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12912003	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12912699	0.83[AFR][1000 genomes]
rs1427281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1427282	0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs1648532	0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs17190727	0.83[EUR][1000 genomes]
rs17269397	0.83[CHB][hapmap]
rs1834747	0.86[ASN][1000 genomes]
rs2657125	0.94[YRI][hapmap];0.85[AFR][1000 genomes]
rs28864995	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs347115	1.00[CHB][hapmap];0.87[YRI][hapmap]
rs347117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs383902	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs387812	0.87[YRI][hapmap]
rs442495	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs474875	1.00[CHB][hapmap];0.87[YRI][hapmap]
rs4774310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4775087	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4775094	1.00[CHB][hapmap]
rs507801	1.00[JPT][hapmap]
rs596379	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs605928	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs610877	1.00[CHB][hapmap];0.87[YRI][hapmap]
rs6494029	0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs6494035	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6494036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6494037	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs653765	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs673813	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs714696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7161889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7163162	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7183336	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs972801	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.82[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	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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58977200-59039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:58983200-59016600	Weak transcription	Small Intestine	intestine
3	chr15:58986600-59016600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr15:58989800-59016800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:58990000-59023400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:58992000-59023000	Weak transcription	Esophagus	oesophagus
7	chr15:58992000-59023800	Weak transcription	Aorta	Aorta
8	chr15:58992600-59016600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr15:58992600-59021000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr15:58996000-59016600	Weak transcription	Colonic Mucosa	Colon
11	chr15:58996200-59016800	Weak transcription	Psoas Muscle	Psoas
12	chr15:58996600-59016600	Weak transcription	NHLF	lung
13	chr15:58996600-59016800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:58998400-59016600	Weak transcription	Osteobl	bone
15	chr15:58998600-59016600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:58998600-59016800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:58999000-59023800	Weak transcription	Gastric	stomach
18	chr15:59003800-59016600	Weak transcription	NH-A	brain
19	chr15:59005200-59022400	Weak transcription	Fetal Muscle Leg	muscle
20	chr15:59005600-59021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:59005600-59023000	Weak transcription	Spleen	Spleen
22	chr15:59005600-59023600	Weak transcription	NHEK	skin
23	chr15:59005800-59022800	Weak transcription	HMEC	breast
24	chr15:59005800-59025200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr15:59006200-59023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:59006200-59024000	Weak transcription	Pancreas	Pancrea
27	chr15:59006400-59016600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr15:59006400-59016800	Weak transcription	HSMMtube	muscle
29	chr15:59006400-59017000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:59006400-59017000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:59006400-59021600	Weak transcription	Fetal Stomach	stomach
32	chr15:59006400-59022800	Weak transcription	Fetal Intestine Small	intestine
33	chr15:59007400-59026400	Weak transcription	Fetal Intestine Large	intestine
34	chr15:59008600-59028400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:59009400-59016600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr15:59009600-59016800	Weak transcription	Stomach Mucosa	stomach
37	chr15:59009600-59029600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr15:59009800-59016600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:59009800-59016600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr15:59009800-59016600	Weak transcription	Placenta	Placenta
41	chr15:59009800-59016800	Weak transcription	Fetal Kidney	kidney
42	chr15:59009800-59018000	Weak transcription	Liver	Liver
43	chr15:59009800-59021000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:59009800-59035400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:59010000-59016600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr15:59010000-59016600	Weak transcription	HSMM	muscle
47	chr15:59010000-59021800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:59010200-59016600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr15:59010200-59024000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr15:59010200-59024200	Weak transcription	HepG2	liver

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