Variant report

Variant	rs1012851
Chromosome Location	chr5:127360241-127360242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:127360052-127360252	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127354857..127359088-chr5:127359921..127363136,4	K562	blood:

Variant related genes	Relation type
ENSG00000245937	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10045113	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10045307	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10057122	0.80[AMR][1000 genomes]
rs10060181	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10060390	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10061367	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10064098	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10064357	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10089	0.95[CEU][hapmap];0.91[JPT][hapmap]
rs1036171	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10463838	0.95[CEU][hapmap];0.95[JPT][hapmap]
rs10478796	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10478798	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10478803	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13355233	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13356473	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13357268	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13358455	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368270	0.84[CHB][hapmap]
rs1432614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1432615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559263	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs1560636	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17164310	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs17164427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17764954	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1842006	0.95[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs1864922	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1864923	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1962291	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1985268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054444	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2190797	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2228112	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2409109	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2898096	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3087889	0.95[CEU][hapmap];0.91[JPT][hapmap]
rs35212223	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3792866	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3805604	0.80[CHB][hapmap]
rs3805606	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3805607	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3805612	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs3805615	0.95[CEU][hapmap];0.95[JPT][hapmap]
rs3816006	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4835939	0.85[CHB][hapmap]
rs4835940	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4835941	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835943	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4835944	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs4836358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836359	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836360	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4836361	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4836362	0.80[CHB][hapmap]
rs4836363	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4836365	0.80[CHB][hapmap]
rs4836366	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4836367	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4836368	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4836369	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4836370	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56066100	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58433932	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60964984	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62373701	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6595798	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6595800	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6595806	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6862701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6873339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6879970	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6887847	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72794396	0.81[ASN][1000 genomes]
rs736969	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs758179	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7703634	0.95[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap]
rs7713860	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7718286	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7732599	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs883074	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs891886	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9968597	0.89[AMR][1000 genomes];0.90[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	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1806594	chr5:127336033-127410767	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1808488	chr5:127336033-127410767	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1825228	chr5:127336033-127410767	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1829119	chr5:127336033-127410767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
2	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
3	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
5	chr5:127333800-127370800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:127334600-127394000	Weak transcription	Lung	lung
7	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
8	chr5:127336800-127375000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr5:127343000-127380000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:127343800-127361600	Weak transcription	Adipose Nuclei	Adipose
11	chr5:127345600-127371400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:127347400-127362200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:127347800-127365800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:127350600-127362600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:127351000-127372800	Weak transcription	Brain Angular Gyrus	brain
16	chr5:127352000-127372800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:127352200-127366400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:127352600-127361400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:127353000-127362200	Weak transcription	Fetal Lung	lung
20	chr5:127353000-127365600	Weak transcription	Dnd41	blood
21	chr5:127353200-127397000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:127354000-127397400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:127354400-127398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:127354600-127365600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr5:127354600-127372600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:127354600-127409800	Weak transcription	Left Ventricle	heart
27	chr5:127354800-127379800	Weak transcription	Fetal Stomach	stomach
28	chr5:127355400-127361000	Weak transcription	Brain Anterior Caudate	brain
29	chr5:127355400-127362400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr5:127356000-127366200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:127356000-127372600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:127356200-127399200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:127356400-127379600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:127356400-127414000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:127357200-127373800	Weak transcription	NH-A	brain
36	chr5:127357200-127393800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:127357800-127361000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:127358000-127368800	Weak transcription	Osteobl	bone
39	chr5:127358000-127378400	Weak transcription	NHLF	lung
40	chr5:127358200-127360400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:127358800-127365600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:127358800-127365600	Weak transcription	HSMMtube	muscle
43	chr5:127358800-127365800	Weak transcription	Primary T cells from cord blood	blood
44	chr5:127358800-127365800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:127358800-127365800	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:127358800-127365800	Weak transcription	HSMM	muscle
47	chr5:127358800-127372600	Weak transcription	HMEC	breast
48	chr5:127358800-127389000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:127359000-127369000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:127359200-127365600	Weak transcription	Primary B cells from cord blood	blood

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