Variant report

Variant	rs2371597
Chromosome Location	chr14:81873377-81873378
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81871880..81873578-chr14:81882062..81884053,2	MCF-7	breast:
2	chr14:81871493..81873378-chr14:81876007..81877708,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10134056	0.84[CHB][hapmap]
rs12432021	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12435764	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3742550	0.90[CHB][hapmap]
rs4083463	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59969857	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61986593	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61986597	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61986598	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61986599	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7144547	0.94[CHB][hapmap]
rs8004137	0.95[CHB][hapmap]
rs8020575	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr14:81836400-81885800	Weak transcription	Gastric	stomach
2	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:81861400-81889400	Weak transcription	Fetal Kidney	kidney
4	chr14:81862800-81881400	Weak transcription	Fetal Intestine Small	intestine
5	chr14:81864400-81893600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:81865000-81884600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:81865000-81885600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:81865000-81889400	Weak transcription	Ovary	ovary
9	chr14:81865000-81892400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:81867600-81892000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:81867800-81889800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:81868400-81884000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:81868600-81874200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:81868800-81881600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:81868800-81893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:81869200-81879200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:81869400-81880600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:81872200-81876800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr14:81872600-81874000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:81872600-81874800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:81872800-81873600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr14:81872800-81874000	Enhancers	HSMM	muscle
23	chr14:81872800-81874400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:81872800-81875400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr14:81873000-81873400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:81873000-81873400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:81873000-81873400	Enhancers	Placenta	Placenta
28	chr14:81873000-81873400	Enhancers	Spleen	Spleen
29	chr14:81873000-81873400	Bivalent Enhancer	Osteobl	bone
30	chr14:81873000-81873600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:81873000-81873600	Enhancers	Fetal Muscle Leg	muscle
32	chr14:81873000-81873600	Enhancers	HSMMtube	muscle
33	chr14:81873000-81874000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:81873000-81874000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr14:81873000-81874000	Enhancers	Liver	Liver
36	chr14:81873000-81874000	Enhancers	Brain Anterior Caudate	brain
37	chr14:81873000-81874000	Enhancers	Psoas Muscle	Psoas
38	chr14:81873000-81874000	Enhancers	HMEC	breast
39	chr14:81873000-81874000	Enhancers	NHDF-Ad	bronchial
40	chr14:81873000-81874200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr14:81873000-81874400	Enhancers	Adipose Nuclei	Adipose
42	chr14:81873000-81874400	Genic enhancers	K562	blood
43	chr14:81873000-81875400	Enhancers	HepG2	liver
44	chr14:81873200-81873400	Enhancers	Brain Hippocampus Middle	brain
45	chr14:81873200-81873400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr14:81873200-81873400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
47	chr14:81873200-81873400	Bivalent Enhancer	NH-A	brain
48	chr14:81873200-81873600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:81873200-81873800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
50	chr14:81873200-81874000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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