Variant report

Variant	rs8037469
Chromosome Location	chr15:57320719-57320720
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	chr15:57316485..57318733-chr15:57320688..57323136,2	K562	blood:
2	chr15:57315197..57318733-chr15:57320688..57324516,3	K562	blood:

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

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

rs_ID	r²[population]
rs1020888	0.91[ASW][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs13329610	1.00[JPT][hapmap]
rs1430821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1542508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1642932	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs1642938	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1652734	0.81[ASN][1000 genomes]
rs1652735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1652736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1657925	0.87[ASN][1000 genomes]
rs16977246	1.00[JPT][hapmap]
rs16977269	1.00[JPT][hapmap]
rs1841692	1.00[JPT][hapmap]
rs2011551	1.00[JPT][hapmap];0.82[YRI][hapmap]
rs2116064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs213145	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs213146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs213147	0.82[EUR][1000 genomes]
rs213157	0.87[ASN][1000 genomes]
rs213158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs213159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs213161	1.00[CEU][hapmap]
rs213169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2566843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2576928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs2585084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2585110	0.91[ASW][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs2585117	0.91[EUR][1000 genomes]
rs2585118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2593230	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2593246	1.00[JPT][hapmap]
rs2615233	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs2703587	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2703589	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2703620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733194	0.83[ASW][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[ASN][1000 genomes]
rs2733195	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2733339	0.83[ASW][hapmap];1.00[JPT][hapmap]
rs4494480	0.91[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs4774911	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4774912	1.00[JPT][hapmap]
rs56235870	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56804967	0.91[EUR][1000 genomes]
rs57344548	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57452003	0.87[ASN][1000 genomes]
rs57813422	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57849686	0.87[ASN][1000 genomes]
rs57968080	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59313491	0.87[ASN][1000 genomes]
rs60268394	0.87[ASN][1000 genomes]
rs604191	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6493902	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs6493904	1.00[JPT][hapmap]
rs7161894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7162421	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7170742	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7175983	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7180911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73411246	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73413325	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413333	0.87[ASN][1000 genomes]
rs73413352	0.87[ASN][1000 genomes]
rs74018446	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74018485	0.87[ASN][1000 genomes]
rs8025829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040423	0.87[ASN][1000 genomes]
rs8040557	1.00[JPT][hapmap]
rs8043301	0.87[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	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1052052	chr15:57232111-57344561	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv542394	chr15:57232111-57344561	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57307800-57323400	Weak transcription	Pancreas	Pancrea
2	chr15:57308000-57328000	Weak transcription	Gastric	stomach
3	chr15:57308800-57323400	Weak transcription	Small Intestine	intestine
4	chr15:57309200-57323400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:57309400-57323000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr15:57309400-57334600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:57309600-57323200	Weak transcription	Thymus	Thymus
8	chr15:57310800-57323400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:57311000-57347000	Weak transcription	Fetal Intestine Large	intestine
10	chr15:57312400-57323000	Weak transcription	K562	blood
11	chr15:57315600-57328200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:57315600-57328600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr15:57315800-57323000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr15:57316000-57323400	Weak transcription	Primary B cells from cord blood	blood
15	chr15:57316200-57323000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr15:57316200-57323400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:57316200-57323400	Weak transcription	Fetal Muscle Leg	muscle
18	chr15:57316400-57324000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:57316400-57328200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:57316400-57345400	Weak transcription	Fetal Intestine Small	intestine
21	chr15:57316600-57327800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr15:57317600-57322400	Weak transcription	Psoas Muscle	Psoas
23	chr15:57317600-57326200	Weak transcription	Esophagus	oesophagus
24	chr15:57317800-57323000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:57318200-57323200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr15:57318200-57323400	Weak transcription	Left Ventricle	heart
27	chr15:57318400-57322600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:57318400-57323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:57318400-57323000	Weak transcription	HepG2	liver
30	chr15:57318400-57323200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr15:57318400-57323200	Weak transcription	Brain Germinal Matrix	brain
32	chr15:57318400-57323400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:57318400-57323400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr15:57318600-57321800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:57318600-57322400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:57318600-57322800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr15:57318600-57323000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:57318600-57323000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr15:57318600-57323000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr15:57318600-57323000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:57318600-57323000	Weak transcription	NHDF-Ad	bronchial
42	chr15:57318600-57323200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:57318600-57323200	Weak transcription	HSMM	muscle
44	chr15:57318600-57323200	Weak transcription	Osteobl	bone
45	chr15:57318600-57323400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:57318600-57323400	Weak transcription	Fetal Stomach	stomach
47	chr15:57318600-57323400	Weak transcription	Ovary	ovary
48	chr15:57318600-57323400	Weak transcription	Right Ventricle	heart
49	chr15:57318600-57323400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:57318600-57323800	Weak transcription	Monocytes-CD14+_RO01746	blood

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