Variant report

Variant	rs972801
Chromosome Location	chr15:58921198-58921199
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	chr15:58919916..58921624-chr15:58929696..58932530,2	K562	blood:
2	chr15:58915714..58921238-chr15:58922986..58925558,6	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11071398	0.95[YRI][hapmap]
rs11638244	0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11854073	1.00[ASW][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12439457	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12899638	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12912003	0.84[ASN][1000 genomes]
rs12912699	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1427281	0.87[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.94[ASN][1000 genomes]
rs1427282	0.80[CEU][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1648532	0.89[CHB][hapmap];0.86[YRI][hapmap]
rs1834747	0.93[ASN][1000 genomes]
rs2555356	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2657125	1.00[YRI][hapmap]
rs28864995	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs347115	0.92[CHB][hapmap];0.84[CHD][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]
rs347117	0.92[ASW][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs383902	0.92[ASW][hapmap];0.84[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]
rs387812	1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]
rs4275799	0.85[GIH][hapmap]
rs442495	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs474875	0.92[CHB][hapmap];0.80[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]
rs4774310	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4775086	0.85[ASW][hapmap];0.81[GIH][hapmap];0.82[MKK][hapmap]
rs4775087	0.92[ASW][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4775094	0.92[CHB][hapmap];0.86[GIH][hapmap]
rs507801	1.00[JPT][hapmap]
rs593742	0.86[GIH][hapmap]
rs605928	0.82[ASW][hapmap];0.84[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap]
rs610877	0.92[CHB][hapmap];0.80[CHD][hapmap];0.89[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap]
rs6494029	0.81[GIH][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6494035	0.84[ASN][1000 genomes]
rs6494036	0.92[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs653765	0.84[ASW][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs673813	0.89[CHB][hapmap]
rs714696	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7161889	0.92[ASW][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7163162	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7168776	0.84[AFR][1000 genomes]
rs7171818	0.81[CHB][hapmap]
rs7177678	0.84[ASW][hapmap];0.91[CEU][hapmap];0.85[GIH][hapmap];0.80[TSI][hapmap]
rs7183336	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8032140	0.84[AMR][1000 genomes]
rs8043406	0.83[GIH][hapmap];0.82[MKK][hapmap]

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	nsv1551	chr15:58891639-58936580	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:120 , 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	chr15:58906400-58923000	Weak transcription	Pancreas	Pancrea
6	chr15:58906400-58976400	Weak transcription	Small Intestine	intestine
7	chr15:58907800-58952000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:58908000-58923000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:58910400-58923200	Weak transcription	Lung	lung
10	chr15:58910400-58934000	Weak transcription	Psoas Muscle	Psoas
11	chr15:58910800-58926200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:58911600-58951200	Weak transcription	Fetal Brain Male	brain
13	chr15:58911600-58958000	Weak transcription	Fetal Brain Female	brain
14	chr15:58912600-58922800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:58914200-58957600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:58914600-58957000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:58917000-58923000	Weak transcription	Fetal Stomach	stomach
18	chr15:58917000-58959600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:58917600-58925600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:58919000-58923000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr15:58919400-58921200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:58919600-58921200	Active TSS	Thymus	Thymus
23	chr15:58919600-58921600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr15:58919600-58921600	Enhancers	Fetal Intestine Large	intestine
25	chr15:58919800-58921800	Enhancers	Stomach Mucosa	stomach
26	chr15:58919800-58922200	Weak transcription	HepG2	liver
27	chr15:58919800-58923000	Weak transcription	Placenta	Placenta
28	chr15:58919800-58924200	Weak transcription	Fetal Lung	lung
29	chr15:58919800-58959200	Weak transcription	Brain Germinal Matrix	brain
30	chr15:58920000-58921400	Flanking Active TSS	HUVEC	blood vessel
31	chr15:58920000-58921600	Enhancers	Fetal Intestine Small	intestine
32	chr15:58920000-58923600	Weak transcription	K562	blood
33	chr15:58920200-58921200	Active TSS	Primary T cells fromperipheralblood	blood
34	chr15:58920200-58921200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:58920200-58921400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr15:58920200-58921600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:58920200-58921600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:58920200-58921600	Enhancers	Primary B cells from peripheral blood	blood
39	chr15:58920200-58921600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr15:58920200-58923200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:58920200-58923800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr15:58920200-58924200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr15:58920200-58930000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:58920200-58946600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:58920200-58957200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr15:58920400-58922000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:58920400-58924000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:58920400-58933000	Weak transcription	Fetal Kidney	kidney
49	chr15:58920600-58921200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr15:58920600-58921200	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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