Variant report

Variant	rs604191
Chromosome Location	chr15:57243819-57243820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57243814..57246675-chr15:57249324..57251467,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1020888	1.00[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];0.82[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs1628067	0.80[LWK][hapmap];1.00[YRI][hapmap]
rs1642932	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1642933	0.87[AFR][1000 genomes]
rs1642938	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1652734	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1652735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1652736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1657925	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16977246	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1841692	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs2011551	1.00[JPT][hapmap]
rs2116064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213145	1.00[CHB][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213146	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213147	0.91[EUR][1000 genomes]
rs213149	1.00[YRI][hapmap]
rs213150	1.00[CEU][hapmap]
rs213155	0.84[MKK][hapmap];0.90[YRI][hapmap]
rs213157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213161	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs213169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2566843	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][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];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2585084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2585087	1.00[YRI][hapmap]
rs2585110	1.00[ASW][hapmap];1.00[CHD][hapmap];0.85[MKK][hapmap]
rs2585117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2585118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes];1.00[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]
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]
rs2733171	1.00[YRI][hapmap]
rs2733194	0.91[ASW][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2733195	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2733339	0.91[ASW][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.89[MKK][hapmap];0.90[YRI][hapmap]
rs4494480	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56235870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56683633	1.00[AMR][1000 genomes]
rs56804967	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57344548	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57452003	1.00[ASN][1000 genomes]
rs57813422	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57849686	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57968080	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58388376	1.00[AMR][1000 genomes]
rs59313491	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60268394	1.00[ASN][1000 genomes]
rs7161894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7170742	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175983	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7180911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs73411246	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73413333	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73413352	1.00[AMR][1000 genomes]
rs73413365	1.00[AMR][1000 genomes]
rs74018446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74018485	1.00[AMR][1000 genomes]
rs8025829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8037469	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]
rs8040423	1.00[ASN][1000 genomes]
rs8043301	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv904250	chr15:57225766-57294085	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57212400-57256000	Weak transcription	Pancreas	Pancrea
2	chr15:57213200-57256000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:57222600-57250200	Weak transcription	NH-A	brain
4	chr15:57222800-57255000	Weak transcription	HMEC	breast
5	chr15:57224600-57248600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:57225000-57244200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:57225000-57249000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:57227000-57249800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr15:57227600-57260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:57228200-57260600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:57229400-57255800	Weak transcription	Fetal Stomach	stomach
12	chr15:57232000-57256000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr15:57233000-57250200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:57234400-57249000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr15:57236800-57249800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:57238200-57249000	Weak transcription	HSMM	muscle
17	chr15:57238400-57247800	Weak transcription	NHDF-Ad	bronchial
18	chr15:57238400-57249000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr15:57238400-57256200	Weak transcription	K562	blood
20	chr15:57238600-57245000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:57238600-57248200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:57238800-57244000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr15:57238800-57244000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr15:57239000-57246400	Weak transcription	Fetal Intestine Large	intestine
25	chr15:57239600-57250200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:57240200-57249200	Weak transcription	Psoas Muscle	Psoas
27	chr15:57240200-57250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:57240200-57250200	Weak transcription	Left Ventricle	heart
29	chr15:57241000-57249000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:57241000-57255600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:57241200-57251600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr15:57241200-57254400	Weak transcription	NHLF	lung
33	chr15:57241600-57249200	Weak transcription	Osteobl	bone
34	chr15:57241800-57247200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr15:57242200-57244200	Strong transcription	Dnd41	blood
36	chr15:57242200-57244600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:57242200-57244600	Weak transcription	Brain Substantia Nigra	brain
38	chr15:57242200-57247000	Weak transcription	Fetal Lung	lung
39	chr15:57242200-57249800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr15:57242200-57251400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:57242200-57256000	Weak transcription	Ovary	ovary
42	chr15:57242400-57244200	Strong transcription	Fetal Intestine Small	intestine
43	chr15:57242400-57249200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:57242400-57250000	Weak transcription	Thymus	Thymus
45	chr15:57242600-57244800	Weak transcription	Primary T cells from cord blood	blood
46	chr15:57242600-57252000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:57242800-57244200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:57243000-57244000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr15:57243400-57244000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr15:57243400-57244800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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