Variant report

Variant	rs11627861
Chromosome Location	chr14:70448390-70448391
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	chr14:70430216..70432462-chr14:70446233..70448527,2	MCF-7	breast:
2	chr14:70436382..70438821-chr14:70446582..70449238,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10136272	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136306	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136530	1.00[ASN][1000 genomes]
rs10139476	1.00[ASN][1000 genomes]
rs10149688	1.00[MEX][hapmap]
rs10483829	1.00[ASN][1000 genomes]
rs11158825	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620760	1.00[ASN][1000 genomes]
rs11621903	1.00[ASN][1000 genomes]
rs11623388	1.00[ASN][1000 genomes]
rs11629028	1.00[ASN][1000 genomes]
rs11629320	1.00[ASN][1000 genomes]
rs11847692	1.00[ASN][1000 genomes]
rs17765431	1.00[ASN][1000 genomes]
rs35141280	1.00[ASN][1000 genomes]
rs66884428	1.00[ASN][1000 genomes]
rs68165911	1.00[ASN][1000 genomes]
rs7161219	1.00[ASN][1000 genomes]
rs73289085	1.00[ASN][1000 genomes]
rs8003186	1.00[ASN][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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70418800-70448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:70429800-70450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:70433200-70454000	Strong transcription	Liver	Liver
4	chr14:70439000-70458800	Weak transcription	Gastric	stomach
5	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
6	chr14:70441200-70448600	Weak transcription	Right Atrium	heart
7	chr14:70441400-70451800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70442200-70451800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:70444200-70448400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:70444600-70449000	Weak transcription	Fetal Brain Male	brain
11	chr14:70445600-70449800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:70445600-70450600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:70445800-70448400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr14:70445800-70450400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:70446000-70449400	Enhancers	Fetal Intestine Large	intestine
16	chr14:70446000-70449600	Weak transcription	Fetal Brain Female	brain
17	chr14:70446200-70449800	Enhancers	HMEC	breast
18	chr14:70446400-70449600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:70446400-70449600	Enhancers	NHEK	skin
20	chr14:70446400-70449800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:70446600-70448800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:70446800-70449200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:70446800-70449800	Enhancers	Pancreas	Pancrea
24	chr14:70447000-70448400	Enhancers	Fetal Muscle Trunk	muscle
25	chr14:70447000-70448400	Enhancers	HepG2	liver
26	chr14:70447000-70448600	Enhancers	Fetal Intestine Small	intestine
27	chr14:70447000-70449200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:70447000-70454400	Genic enhancers	Hela-S3	cervix
29	chr14:70447200-70448600	Weak transcription	Psoas Muscle	Psoas
30	chr14:70447200-70449200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:70447400-70448600	Enhancers	Brain Anterior Caudate	brain
32	chr14:70447400-70449200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr14:70447400-70449600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:70447600-70448600	Enhancers	Brain Hippocampus Middle	brain
35	chr14:70447600-70448600	Enhancers	Brain Substantia Nigra	brain
36	chr14:70447600-70449600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:70447600-70450000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr14:70447600-70454400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:70447800-70449000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr14:70447800-70450600	Enhancers	Brain Cingulate Gyrus	brain
41	chr14:70448000-70448400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr14:70448000-70448800	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr14:70448000-70449600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:70448000-70450200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:70448200-70448800	Enhancers	A549	lung
46	chr14:70448200-70449600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:70448200-70450400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr14:70448200-70450600	Enhancers	Fetal Stomach	stomach
49	chr14:70448200-70453000	Weak transcription	Brain Germinal Matrix	brain
50	chr14:70448200-70455000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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