Variant report

Variant	rs3803454
Chromosome Location	chr15:57241042-57241043
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	chr15:57210198..57214861-chr15:57238728..57241582,5	K562	blood:
2	chr15:57213053..57214861-chr15:57239551..57242181,2	K562	blood:

Variant related genes	Relation type
ENSG00000137871	Chromatin interaction
ENSG00000140262	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10518894	0.84[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs10518895	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11630195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11631228	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11631541	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes]
rs11631732	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11632592	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11852340	0.84[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs11853331	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes]
rs11855648	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11858471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12898327	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12898844	0.82[EUR][1000 genomes]
rs12899187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12899915	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12900589	0.89[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs12900874	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs12900986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12901780	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12904070	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12904784	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12905900	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12906873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12906936	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12908670	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12909811	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12910094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes]
rs12914410	0.82[AMR][1000 genomes]
rs12914625	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12916237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12916958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12917247	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13313455	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs1430823	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1628067	0.85[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17239040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17819700	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1820995	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2053472	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2111891	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2116065	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2116066	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213149	0.89[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap]
rs213164	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2165461	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2169466	0.82[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs2414490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2464429	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2464430	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2470079	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2470082	0.91[JPT][hapmap]
rs2583108	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2585082	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2585087	0.82[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2585088	0.91[JPT][hapmap]
rs2585102	0.82[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2585112	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs2615231	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs2703576	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs2703580	0.91[JPT][hapmap]
rs2733170	0.91[JPT][hapmap]
rs2733171	0.81[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2733174	0.82[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2733176	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2733181	0.82[AMR][1000 genomes]
rs2733188	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs2733332	0.81[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap]
rs2920267	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2951899	0.81[JPT][hapmap]
rs2951901	0.91[JPT][hapmap]
rs2951903	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs2951904	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs2962990	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2962991	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2962992	0.85[JPT][hapmap]
rs2962993	0.82[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34262415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35646942	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3803455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4399497	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4774898	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4774899	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4774902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774910	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs62022986	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62022988	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62025331	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6493901	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs715338	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7170133	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7175436	0.86[JPT][hapmap]
rs7496293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8037901	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs967514	0.84[CHB][hapmap];0.86[JPT][hapmap]

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:74 , 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	chr15:57216400-57241800	Weak transcription	Fetal Brain Male	brain
4	chr15:57222600-57250200	Weak transcription	NH-A	brain
5	chr15:57222800-57255000	Weak transcription	HMEC	breast
6	chr15:57224600-57248600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:57225000-57244200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:57225000-57249000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:57226400-57242000	Weak transcription	HUVEC	blood vessel
10	chr15:57227000-57249800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:57227600-57260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:57228000-57242400	Weak transcription	Fetal Intestine Small	intestine
13	chr15:57228200-57260600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:57229400-57255800	Weak transcription	Fetal Stomach	stomach
15	chr15:57232000-57256000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr15:57233000-57250200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:57233800-57242000	Weak transcription	Ovary	ovary
18	chr15:57234400-57249000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr15:57236800-57249800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:57237000-57242000	Weak transcription	Brain Anterior Caudate	brain
21	chr15:57237200-57241800	Weak transcription	Fetal Heart	heart
22	chr15:57238200-57249000	Weak transcription	HSMM	muscle
23	chr15:57238400-57241200	Weak transcription	Fetal Kidney	kidney
24	chr15:57238400-57241600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:57238400-57242800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:57238400-57243400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:57238400-57247800	Weak transcription	NHDF-Ad	bronchial
28	chr15:57238400-57249000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr15:57238400-57256200	Weak transcription	K562	blood
30	chr15:57238600-57241200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:57238600-57243200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr15:57238600-57245000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:57238600-57248200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:57238800-57241200	Enhancers	HepG2	liver
35	chr15:57238800-57241800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr15:57238800-57244000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr15:57238800-57244000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:57239000-57246400	Weak transcription	Fetal Intestine Large	intestine
39	chr15:57239400-57242200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:57239600-57241400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:57239600-57242000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr15:57239600-57242200	Enhancers	Primary T cells from cord blood	blood
43	chr15:57239600-57250200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:57240200-57241400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr15:57240200-57242000	Enhancers	Colon Smooth Muscle	Colon
46	chr15:57240200-57242000	Weak transcription	Thymus	Thymus
47	chr15:57240200-57242200	Weak transcription	Dnd41	blood
48	chr15:57240200-57243600	Strong transcription	Fetal Thymus	thymus
49	chr15:57240200-57249200	Weak transcription	Psoas Muscle	Psoas
50	chr15:57240200-57250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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