Variant report

Variant	rs2184602
Chromosome Location	chr14:65915672-65915673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65913368..65916336-chr14:65927007..65928955,2	K562	blood:
2	chr14:65913553..65916302-chr14:65929744..65931459,2	MCF-7	breast:
3	chr14:65877806..65879770-chr14:65914236..65915887,2	MCF-7	breast:
4	chr14:65912946..65915806-chr14:65916268..65918794,2	K562	blood:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10138765	0.85[EUR][1000 genomes]
rs11844747	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11845794	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs11849252	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11849862	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11850160	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs11850163	1.00[CEU][hapmap]
rs11850847	1.00[CEU][hapmap];0.83[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11851013	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11851772	1.00[CEU][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12431420	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12433827	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs12434585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12434854	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12437427	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17246007	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17246035	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17246042	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17246259	0.83[EUR][1000 genomes]
rs17826580	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]
rs17826724	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17826736	1.00[CEU][hapmap]
rs17826790	0.85[EUR][1000 genomes]
rs17826796	0.85[EUR][1000 genomes]
rs17826820	0.81[AMR][1000 genomes]
rs1953417	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1998035	0.81[AMR][1000 genomes]
rs2073294	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2152375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268957	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs56156482	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57201867	0.85[EUR][1000 genomes]
rs57451368	0.87[EUR][1000 genomes]
rs58032513	0.81[EUR][1000 genomes]
rs58115860	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59117465	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59204447	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59561356	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59676254	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59685862	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59822422	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59921977	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60396689	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60554055	0.87[EUR][1000 genomes]
rs60852857	0.81[ASN][1000 genomes]
rs60927973	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60942639	0.85[EUR][1000 genomes]
rs61315421	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61533229	0.89[EUR][1000 genomes]
rs7140261	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7145574	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7150362	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7150564	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7153679	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73268512	0.83[EUR][1000 genomes]
rs73268521	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73268524	0.85[EUR][1000 genomes]
rs73282260	0.81[EUR][1000 genomes]
rs73284121	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73284133	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73284143	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73286118	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73286169	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73286173	0.83[EUR][1000 genomes]
rs8005309	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8018909	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs884247	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9635251	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65892800-65929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:65893000-65917600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:65897000-65925600	Weak transcription	Aorta	Aorta
4	chr14:65898400-65935600	Weak transcription	Gastric	stomach
5	chr14:65899600-65929000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:65899800-65917600	Weak transcription	Thymus	Thymus
7	chr14:65900000-65917400	Weak transcription	Fetal Thymus	thymus
8	chr14:65901200-65917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:65901200-65920200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:65901800-65917600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:65901800-65920200	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:65902200-65927000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:65902400-65928400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:65903000-65917800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:65903200-65917600	Weak transcription	Fetal Stomach	stomach
16	chr14:65903200-65922600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:65903200-65925200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:65905000-65917600	Weak transcription	Brain Germinal Matrix	brain
19	chr14:65905600-65916200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr14:65905600-65918000	Weak transcription	Primary T cells from cord blood	blood
21	chr14:65905800-65918000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:65905800-65936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:65906000-65923800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:65906000-65926800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:65906200-65919800	Weak transcription	Ovary	ovary
26	chr14:65906200-65922000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr14:65906600-65922800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:65907000-65920400	Weak transcription	K562	blood
29	chr14:65911200-65917800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:65911200-65942400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:65912200-65916000	Strong transcription	GM12878-XiMat	blood
32	chr14:65912200-65917200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:65912200-65917600	Weak transcription	Fetal Intestine Small	intestine
34	chr14:65912200-65917800	Weak transcription	Fetal Intestine Large	intestine
35	chr14:65912200-65922400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr14:65912400-65917600	Weak transcription	Primary B cells from cord blood	blood
37	chr14:65913000-65916200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:65913000-65917400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:65913000-65924000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:65913200-65916000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr14:65913200-65920200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:65913200-65920400	Weak transcription	Fetal Lung	lung
43	chr14:65913200-65922400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:65913200-65927000	Weak transcription	NH-A	brain
45	chr14:65913200-65928000	Weak transcription	Osteobl	bone
46	chr14:65913400-65918400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr14:65913600-65917400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:65913600-65917600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:65913600-65920400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:65913800-65915800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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