Variant report

Variant	rs59676254
Chromosome Location	chr14:65942840-65942841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65942071..65945290-chr14:65946975..65950511,4	K562	blood:
2	chr14:65937464..65939011-chr14:65942451..65944028,2	K562	blood:
3	chr14:65942437..65944231-chr14:65945915..65948475,2	K562	blood:
4	chr14:65935399..65938391-chr14:65940482..65942968,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207781	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10138765	0.85[EUR][1000 genomes]
rs11844747	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11849252	0.82[EUR][1000 genomes]
rs11849862	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11850847	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11851013	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11851772	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12431420	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12433827	0.89[EUR][1000 genomes]
rs12434585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12434854	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12437427	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17246007	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17246035	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17246042	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17246259	0.83[EUR][1000 genomes]
rs17826580	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17826724	0.82[EUR][1000 genomes]
rs17826790	0.85[EUR][1000 genomes]
rs17826796	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17826820	0.81[AMR][1000 genomes]
rs1953417	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1998035	0.81[AMR][1000 genomes]
rs2073294	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2152375	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2184602	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268957	0.81[AMR][1000 genomes]
rs56156482	0.80[AFR][1000 genomes];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	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59117465	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59204447	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59561356	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59685862	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59822422	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59921977	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60396689	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60554055	0.87[EUR][1000 genomes]
rs60852857	0.83[ASN][1000 genomes]
rs60927973	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60942639	0.85[EUR][1000 genomes]
rs61315421	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61533229	0.89[EUR][1000 genomes]
rs7140261	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7145574	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7150362	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7150564	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7153679	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73284133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73284143	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73286118	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73286169	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73286173	0.83[EUR][1000 genomes]
rs8005309	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8018909	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs884247	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9635251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	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
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65923400-65945000	Weak transcription	NHDF-Ad	bronchial
2	chr14:65925800-65943200	Weak transcription	Thymus	Thymus
3	chr14:65928600-65949400	Weak transcription	Psoas Muscle	Psoas
4	chr14:65929800-65943600	Weak transcription	HSMMtube	muscle
5	chr14:65929800-65944800	Weak transcription	NH-A	brain
6	chr14:65929800-65945400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:65931400-65966200	Weak transcription	Aorta	Aorta
8	chr14:65934000-65944400	Weak transcription	HMEC	breast
9	chr14:65936600-65957400	Weak transcription	Primary B cells from cord blood	blood
10	chr14:65937200-65949600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:65937400-65944800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:65937400-65961600	Weak transcription	Fetal Intestine Large	intestine
13	chr14:65937600-65943800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:65937600-65944200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:65937600-65949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:65937800-65943800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr14:65937800-65944400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:65937800-65946000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:65938000-65952000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:65938200-65944800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:65938400-65945000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr14:65938400-65963400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr14:65938600-65949600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:65938800-65952000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr14:65939000-65943000	Weak transcription	K562	blood
26	chr14:65939000-65946200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:65939000-65949000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:65939000-65949200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:65939000-65969400	Weak transcription	Dnd41	blood
30	chr14:65939200-65943000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:65939200-65944400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:65939200-65945000	Weak transcription	Brain Substantia Nigra	brain
33	chr14:65939200-65945200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:65939200-65945400	Weak transcription	Brain Germinal Matrix	brain
35	chr14:65939200-65949400	Weak transcription	Ovary	ovary
36	chr14:65939400-65944200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:65939600-65943200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:65940000-65949400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:65940600-65959400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:65942000-65943000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr14:65942000-65945400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:65942400-65943000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr14:65942400-65943000	Enhancers	Gastric	stomach
44	chr14:65942400-65943200	Enhancers	Brain Angular Gyrus	brain
45	chr14:65942400-65943200	Enhancers	Brain Hippocampus Middle	brain
46	chr14:65942400-65943400	Enhancers	Stomach Mucosa	stomach
47	chr14:65942400-65943600	Enhancers	Small Intestine	intestine
48	chr14:65942400-65946000	Enhancers	GM12878-XiMat	blood
49	chr14:65942400-65946200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr14:65942600-65943200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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