Variant report

Variant	rs3783743
Chromosome Location	chr14:63910330-63910331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63896920..63899129-chr14:63908243..63911707,3	MCF-7	breast:
2	chr14:63904337..63908229-chr14:63908991..63915546,7	MCF-7	breast:
3	chr14:63908908..63911199-chr14:63912596..63917527,4	K562	blood:
4	chr14:63909330..63911199-chr14:63914051..63916914,2	K562	blood:
5	chr14:63910095..63912903-chr14:63913173..63914686,2	MCF-7	breast:

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1012145	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10129170	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10130074	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10132996	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10133014	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10137243	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10137259	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10137279	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10138187	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10138274	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10138372	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10138832	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10139028	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10139725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140679	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10140710	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10140718	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10141179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10144700	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10145422	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10146848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10148185	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10149549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10152067	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1033742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1033744	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1033745	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1033747	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs10483773	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11158492	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11158493	0.88[EUR][1000 genomes]
rs11850626	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12323479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12433708	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs12434321	0.87[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes]
rs1475040	1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17093492	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17101205	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17101207	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17101238	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17101239	0.95[EUR][1000 genomes]
rs17101242	0.89[EUR][1000 genomes]
rs17225252	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17225266	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17825105	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1951212	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes]
rs1951213	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.99[EUR][1000 genomes]
rs1957045	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes]
rs2016629	0.97[EUR][1000 genomes]
rs2064953	0.89[EUR][1000 genomes]
rs2064954	0.89[EUR][1000 genomes]
rs2180876	0.89[EUR][1000 genomes]
rs28372244	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28394515	0.98[EUR][1000 genomes]
rs28496722	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28522688	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28560307	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28579385	0.99[EUR][1000 genomes]
rs28592209	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28620591	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28683743	1.00[EUR][1000 genomes]
rs28696283	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28711489	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28758626	0.99[EUR][1000 genomes]
rs3783741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4391977	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs4899113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902227	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902229	0.89[EUR][1000 genomes]
rs4902232	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs55859128	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57760311	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60644154	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61627079	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6573517	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs6573518	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6573519	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6573520	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573521	0.81[EUR][1000 genomes]
rs67442217	0.95[EUR][1000 genomes]
rs7140763	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7143816	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7144120	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7146069	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147222	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7152839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153764	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes]
rs7154559	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161634	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714239	0.99[EUR][1000 genomes]
rs72714243	0.82[EUR][1000 genomes]
rs72714258	0.97[EUR][1000 genomes]
rs72714280	0.96[EUR][1000 genomes]
rs72714283	0.95[EUR][1000 genomes]
rs8003115	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8003144	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8003246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003647	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8003956	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8004170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8006981	1.00[EUR][1000 genomes]
rs8007996	0.82[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.98[EUR][1000 genomes]
rs8008684	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes]
rs8014486	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8016306	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8017184	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8018107	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8018128	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8018307	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8018721	1.00[EUR][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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv832815	chr14:63750058-63913900	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63851200-63922000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:63854800-63922400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:63887400-63918600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:63887400-63918800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:63900600-63921800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:63905000-63921600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:63905000-63925800	Weak transcription	Stomach Mucosa	stomach
8	chr14:63905200-63910800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:63905200-63915600	Weak transcription	Dnd41	blood
10	chr14:63905200-63918000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:63905200-63918200	Weak transcription	Thymus	Thymus
12	chr14:63905200-63919000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:63905200-63919200	Weak transcription	K562	blood
14	chr14:63905200-63919600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:63905200-63937600	Weak transcription	Fetal Intestine Small	intestine
16	chr14:63905400-63910400	Weak transcription	Brain Anterior Caudate	brain
17	chr14:63905400-63910400	Weak transcription	Brain Substantia Nigra	brain
18	chr14:63905400-63912800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:63905400-63913800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr14:63905400-63917600	Weak transcription	Fetal Brain Female	brain
21	chr14:63905400-63917600	Weak transcription	Fetal Thymus	thymus
22	chr14:63905400-63918200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:63905400-63918200	Weak transcription	Fetal Intestine Large	intestine
24	chr14:63905400-63918400	Weak transcription	Fetal Stomach	stomach
25	chr14:63905400-63918800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:63905400-63918800	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:63905400-63918800	Weak transcription	Placenta	Placenta
28	chr14:63905400-63921600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:63905400-63926400	Weak transcription	Aorta	Aorta
30	chr14:63905400-63937400	Weak transcription	HUVEC	blood vessel
31	chr14:63905600-63912800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:63905600-63915000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:63905600-63915000	Weak transcription	HMEC	breast
34	chr14:63905600-63915200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:63905600-63917600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:63905600-63918200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr14:63905600-63918200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:63905600-63918200	Weak transcription	NHLF	lung
39	chr14:63905600-63918800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:63905600-63918800	Weak transcription	HSMM	muscle
41	chr14:63905600-63919000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:63905600-63919000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:63905600-63919200	Weak transcription	NH-A	brain
44	chr14:63905600-63919600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:63905600-63920200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr14:63905600-63921600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr14:63905600-63921600	Weak transcription	NHDF-Ad	bronchial
48	chr14:63905600-63927000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:63905800-63917600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:63905800-63922000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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