Variant report

Variant	rs213169
Chromosome Location	chr15:57241940-57241941
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57213053..57214861-chr15:57239551..57242181,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
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];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs1628067	1.00[YRI][hapmap]
rs1642932	1.00[CEU][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1642933	0.87[AFR][1000 genomes]
rs1642938	0.89[AFR][1000 genomes];0.91[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];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1652736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1657925	1.00[ASN][1000 genomes]
rs16977246	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1841692	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs2116064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213145	1.00[CHB][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.91[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];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213147	0.82[EUR][1000 genomes]
rs213149	1.00[YRI][hapmap]
rs213155	0.90[YRI][hapmap]
rs213157	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs213158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213161	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2566843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2576928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2585084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[ASN][1000 genomes]
rs2585087	1.00[YRI][hapmap]
rs2585117	0.91[EUR][1000 genomes]
rs2585118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2615233	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	1.00[JPT][hapmap]
rs2733195	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2733339	1.00[JPT][hapmap];0.90[YRI][hapmap]
rs4494480	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs56235870	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56804967	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57344548	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57452003	1.00[ASN][1000 genomes]
rs57813422	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57849686	1.00[ASN][1000 genomes]
rs57968080	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59313491	1.00[ASN][1000 genomes]
rs60268394	1.00[ASN][1000 genomes]
rs604191	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]
rs7161894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162421	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7170742	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175983	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.91[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]
rs73411246	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413325	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74018446	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8037469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8040423	1.00[ASN][1000 genomes]
rs8043301	1.00[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	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

No data

Chromatin state (count:70 , 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	chr15:57226400-57242000	Weak transcription	HUVEC	blood vessel
9	chr15:57227000-57249800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr15:57227600-57260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:57228000-57242400	Weak transcription	Fetal Intestine Small	intestine
12	chr15:57228200-57260600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:57229400-57255800	Weak transcription	Fetal Stomach	stomach
14	chr15:57232000-57256000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr15:57233000-57250200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:57233800-57242000	Weak transcription	Ovary	ovary
17	chr15:57234400-57249000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:57236800-57249800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:57237000-57242000	Weak transcription	Brain Anterior Caudate	brain
20	chr15:57238200-57249000	Weak transcription	HSMM	muscle
21	chr15:57238400-57242800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:57238400-57243400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:57238400-57247800	Weak transcription	NHDF-Ad	bronchial
24	chr15:57238400-57249000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr15:57238400-57256200	Weak transcription	K562	blood
26	chr15:57238600-57243200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr15:57238600-57245000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:57238600-57248200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:57238800-57244000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr15:57238800-57244000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:57239000-57246400	Weak transcription	Fetal Intestine Large	intestine
32	chr15:57239400-57242200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:57239600-57242000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr15:57239600-57242200	Enhancers	Primary T cells from cord blood	blood
35	chr15:57239600-57250200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:57240200-57242000	Enhancers	Colon Smooth Muscle	Colon
37	chr15:57240200-57242000	Weak transcription	Thymus	Thymus
38	chr15:57240200-57242200	Weak transcription	Dnd41	blood
39	chr15:57240200-57243600	Strong transcription	Fetal Thymus	thymus
40	chr15:57240200-57249200	Weak transcription	Psoas Muscle	Psoas
41	chr15:57240200-57250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:57240200-57250200	Weak transcription	Left Ventricle	heart
43	chr15:57240400-57242200	Enhancers	Brain Cingulate Gyrus	brain
44	chr15:57240400-57242200	Enhancers	A549	lung
45	chr15:57240400-57243200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:57240600-57242000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:57240600-57242200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:57240800-57242200	Enhancers	Brain Hippocampus Middle	brain
49	chr15:57241000-57242400	Enhancers	Hela-S3	cervix
50	chr15:57241000-57249000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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