Variant report

Variant	rs227440
Chromosome Location	chr14:70448865-70448866
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	chr14:70436382..70438821-chr14:70446582..70449238,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10140220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs10140517	0.93[EUR][1000 genomes]
rs10140592	0.93[EUR][1000 genomes]
rs10140789	1.00[EUR][1000 genomes]
rs11621472	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11628205	1.00[CHB][hapmap]
rs12435324	1.00[CEU][hapmap]
rs1380433	1.00[CHB][hapmap]
rs150947	1.00[MEX][hapmap]
rs17107529	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[EUR][1000 genomes]
rs17107556	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17107580	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs172900	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs179119	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs1958081	1.00[MEX][hapmap]
rs227391	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs227409	1.00[MEX][hapmap]
rs227410	1.00[MEX][hapmap]
rs227441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227442	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs227443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227445	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs227446	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs2757704	0.80[EUR][1000 genomes]
rs3742914	1.00[CEU][hapmap]
rs7142807	1.00[MEX][hapmap]
rs7158909	1.00[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70429800-70450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:70433200-70454000	Strong transcription	Liver	Liver
3	chr14:70439000-70458800	Weak transcription	Gastric	stomach
4	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
5	chr14:70441400-70451800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:70442200-70451800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:70444600-70449000	Weak transcription	Fetal Brain Male	brain
8	chr14:70445600-70449800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:70445600-70450600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:70445800-70450400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:70446000-70449400	Enhancers	Fetal Intestine Large	intestine
12	chr14:70446000-70449600	Weak transcription	Fetal Brain Female	brain
13	chr14:70446200-70449800	Enhancers	HMEC	breast
14	chr14:70446400-70449600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:70446400-70449600	Enhancers	NHEK	skin
16	chr14:70446400-70449800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:70446800-70449200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:70446800-70449800	Enhancers	Pancreas	Pancrea
19	chr14:70447000-70449200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:70447000-70454400	Genic enhancers	Hela-S3	cervix
21	chr14:70447200-70449200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:70447400-70449200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr14:70447400-70449600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:70447600-70449600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:70447600-70450000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:70447600-70454400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:70447800-70449000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr14:70447800-70450600	Enhancers	Brain Cingulate Gyrus	brain
29	chr14:70448000-70449600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:70448000-70450200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:70448200-70449600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:70448200-70450400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:70448200-70450600	Enhancers	Fetal Stomach	stomach
34	chr14:70448200-70453000	Weak transcription	Brain Germinal Matrix	brain
35	chr14:70448200-70455000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:70448400-70449000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr14:70448400-70452000	Weak transcription	HepG2	liver
38	chr14:70448400-70453400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr14:70448400-70453600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:70448600-70449000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:70448600-70449000	Weak transcription	Brain Anterior Caudate	brain
42	chr14:70448600-70449200	Weak transcription	Brain Substantia Nigra	brain
43	chr14:70448600-70449600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr14:70448600-70449800	Enhancers	Psoas Muscle	Psoas
45	chr14:70448600-70449800	Enhancers	Right Atrium	heart
46	chr14:70448600-70453400	Weak transcription	Brain Hippocampus Middle	brain
47	chr14:70448800-70449400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:70448800-70450200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:70448800-70450600	Enhancers	Fetal Muscle Leg	muscle
50	chr14:70448800-70451000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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