Variant report

Variant	rs2299929
Chromosome Location	chr14:78078759-78078760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78070489..78072668-chr14:78077080..78079522,2	MCF-7	breast:
2	chr14:78078614..78081375-chr14:78084834..78087635,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10139059	0.80[ASN][1000 genomes]
rs10139852	0.82[ASN][1000 genomes]
rs10140195	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10148189	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10148244	0.82[ASN][1000 genomes]
rs10162458	0.84[ASN][1000 genomes]
rs11626892	0.84[ASN][1000 genomes]
rs12432164	0.91[ASN][1000 genomes]
rs12587835	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13379058	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs176897	1.00[ASN][1000 genomes]
rs176898	1.00[ASN][1000 genomes]
rs176901	0.99[ASN][1000 genomes]
rs176903	1.00[ASN][1000 genomes]
rs176907	0.98[ASN][1000 genomes]
rs1861942	0.80[ASN][1000 genomes]
rs1990806	0.95[CEU][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299922	0.94[ASN][1000 genomes]
rs2299927	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299928	0.80[ASN][1000 genomes]
rs28460392	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28472502	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903614	0.82[ASN][1000 genomes]
rs58598324	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61990852	0.81[ASN][1000 genomes]
rs7144314	0.95[CEU][hapmap]
rs7157536	0.92[ASN][1000 genomes]
rs7158771	0.94[ASN][1000 genomes]
rs8018203	0.82[ASN][1000 genomes]
rs9944097	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[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	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78055000-78081600	Weak transcription	Right Ventricle	heart
2	chr14:78057600-78081400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:78063400-78081600	Weak transcription	Fetal Stomach	stomach
4	chr14:78065600-78081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:78066000-78079600	Weak transcription	Dnd41	blood
6	chr14:78069200-78081600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:78070200-78081600	Weak transcription	Liver	Liver
8	chr14:78070400-78079800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:78070400-78081400	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:78070600-78081400	Weak transcription	Ovary	ovary
11	chr14:78070600-78081600	Weak transcription	Esophagus	oesophagus
12	chr14:78072400-78081200	Weak transcription	Fetal Heart	heart
13	chr14:78072400-78081600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:78072800-78081400	Weak transcription	Colonic Mucosa	Colon
15	chr14:78073400-78081600	Weak transcription	Psoas Muscle	Psoas
16	chr14:78074200-78081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:78074600-78079400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:78074600-78079600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:78074600-78081200	Weak transcription	Fetal Intestine Large	intestine
20	chr14:78074600-78081400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:78074600-78081400	Weak transcription	Right Atrium	heart
22	chr14:78074600-78081600	Weak transcription	Fetal Thymus	thymus
23	chr14:78074800-78081400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:78075000-78079600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:78075000-78079600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:78075200-78079400	Weak transcription	Primary T cells from cord blood	blood
27	chr14:78075200-78079800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr14:78075200-78080400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:78075600-78079800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:78075600-78082000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:78076600-78078800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:78076600-78082000	Weak transcription	Gastric	stomach
33	chr14:78076800-78079800	Enhancers	HSMM	muscle
34	chr14:78076800-78081600	Weak transcription	Lung	lung
35	chr14:78077000-78079800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:78077000-78080200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr14:78077000-78080400	Enhancers	Brain Substantia Nigra	brain
38	chr14:78077200-78080600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr14:78077200-78082000	Weak transcription	Spleen	Spleen
40	chr14:78077400-78079000	Enhancers	Primary B cells from peripheral blood	blood
41	chr14:78077600-78079600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:78077600-78081200	Enhancers	Brain Hippocampus Middle	brain
43	chr14:78077800-78080000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:78077800-78080600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr14:78078000-78079600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:78078000-78080400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr14:78078200-78079000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:78078200-78079600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr14:78078200-78079600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr14:78078200-78079800	Enhancers	Primary hematopoietic stem cells	blood

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