Variant report

Variant	rs11628650
Chromosome Location	chr14:64323520-64323521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64318739..64321542-chr14:64322571..64324157,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11158515	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11158518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11626911	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12161903	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12431956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12432760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12435958	0.87[CHB][hapmap]
rs12586461	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12590842	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17750888	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17750906	0.92[ASN][1000 genomes]
rs1958413	0.85[JPT][hapmap]
rs2357001	0.87[CHB][hapmap]
rs4899121	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902253	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56376318	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56401218	0.82[ASN][1000 genomes]
rs60305436	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61985718	0.81[ASN][1000 genomes]
rs61985726	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61985748	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6573535	0.87[CHB][hapmap]
rs66460676	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66764453	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67011590	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67106029	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67975797	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7140278	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7143794	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7145302	0.86[CHB][hapmap]
rs7145736	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7146469	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7149405	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73276854	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8008800	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8010312	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs8010385	0.90[ASN][1000 genomes]
rs8013611	0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8015374	0.81[ASN][1000 genomes]
rs8016321	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8017009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs951249	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs951250	0.87[CHB][hapmap]
rs998242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	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
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3355344	chr14:64268248-64323934	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64321200-64327000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:64321200-64333800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:64321200-64334600	Weak transcription	Pancreas	Pancrea
4	chr14:64321200-64340600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:64321400-64323600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:64321400-64323800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:64321400-64324200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:64321400-64324200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:64321400-64324800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr14:64321400-64324800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr14:64321400-64330600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:64321400-64331200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:64321400-64350200	Weak transcription	Fetal Stomach	stomach
14	chr14:64321600-64323800	Weak transcription	HSMM	muscle
15	chr14:64321600-64326200	Weak transcription	HSMMtube	muscle
16	chr14:64321600-64326800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:64322000-64324600	Enhancers	Stomach Mucosa	stomach
18	chr14:64322200-64323800	Enhancers	Lung	lung
19	chr14:64322200-64323800	Weak transcription	HMEC	breast
20	chr14:64322200-64327600	Weak transcription	Psoas Muscle	Psoas
21	chr14:64322400-64323800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:64322400-64324000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:64322400-64326600	Weak transcription	Gastric	stomach
24	chr14:64322400-64327800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:64322400-64334400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:64322600-64323600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:64322600-64324200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:64322600-64324400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:64322600-64325000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr14:64322600-64326200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr14:64322600-64327000	Weak transcription	Fetal Intestine Large	intestine
32	chr14:64322600-64331200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:64322600-64331200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr14:64322800-64323800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr14:64322800-64324400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:64322800-64324400	Enhancers	Dnd41	blood
37	chr14:64322800-64325800	Weak transcription	Placenta	Placenta
38	chr14:64322800-64326800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:64322800-64329000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr14:64322800-64330000	Weak transcription	Fetal Kidney	kidney
41	chr14:64322800-64330000	Weak transcription	HepG2	liver
42	chr14:64322800-64330600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:64322800-64330800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr14:64322800-64340400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:64322800-64340600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:64323000-64323600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:64323000-64324000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:64323000-64324000	Weak transcription	Hela-S3	cervix
49	chr14:64323000-64324200	Enhancers	Brain Germinal Matrix	brain
50	chr14:64323000-64324600	Enhancers	GM12878-XiMat	blood

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