Variant report

Variant	rs2383673
Chromosome Location	chr14:35219194-35219195
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	chr14:35201332..35203966-chr14:35218977..35221479,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1044140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11628709	1.00[AFR][1000 genomes]
rs17527243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17592803	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs41301471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41309244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45620534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61981239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7145452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7149819	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7150746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8003689	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8005346	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8005487	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1040350	chr14:35196524-35245409	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1051540	chr14:35200858-35278635	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35209800-35222600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:35210600-35226800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:35211200-35221600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:35211800-35221000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:35211800-35227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:35212000-35221600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:35212000-35221600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:35212000-35221600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:35212000-35222000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:35212000-35222200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr14:35212000-35222600	Weak transcription	Primary T cells from cord blood	blood
12	chr14:35212000-35222600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:35212200-35221400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:35212200-35225800	Weak transcription	Lung	lung
15	chr14:35212400-35219400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr14:35212400-35219600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr14:35212400-35221400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:35212400-35221400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:35212400-35221600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:35212400-35222400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:35212600-35219400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr14:35212600-35221600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:35213800-35221600	Weak transcription	Liver	Liver
24	chr14:35215000-35221000	Weak transcription	NHEK	skin
25	chr14:35215000-35226000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:35215000-35226200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:35215200-35221000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:35215200-35225600	Weak transcription	Spleen	Spleen
29	chr14:35215800-35219400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:35215800-35219600	Weak transcription	NH-A	brain
31	chr14:35215800-35222600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr14:35216000-35225800	Weak transcription	Fetal Lung	lung
33	chr14:35216200-35219600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr14:35216200-35222400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:35216600-35221600	Weak transcription	HepG2	liver
36	chr14:35216600-35230600	Weak transcription	K562	blood
37	chr14:35216800-35221800	Weak transcription	Placenta	Placenta
38	chr14:35217000-35219600	Weak transcription	Osteobl	bone
39	chr14:35217400-35219400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:35217800-35225800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:35218000-35220800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:35218000-35221400	Weak transcription	HUVEC	blood vessel
43	chr14:35218200-35221000	Weak transcription	HSMM	muscle
44	chr14:35218200-35222600	Weak transcription	Fetal Stomach	stomach
45	chr14:35218200-35226600	Weak transcription	Aorta	Aorta
46	chr14:35218200-35232400	Weak transcription	Psoas Muscle	Psoas
47	chr14:35218400-35220000	Weak transcription	Fetal Thymus	thymus
48	chr14:35218400-35222200	Weak transcription	A549	lung
49	chr14:35218600-35221000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:35218600-35221000	Weak transcription	Primary B cells from peripheral blood	blood

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