Variant report

Variant	rs10133618
Chromosome Location	chr14:67981403-67981404
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67980933..67983898-chr14:67998089..68001326,3	MCF-7	breast:
2	chr14:67954053..67956925-chr14:67980005..67982672,2	MCF-7	breast:
3	chr14:67981257..67983579-chr14:67998739..68001743,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10134444	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10143518	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873204	0.84[ASN][1000 genomes]
rs11158675	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158676	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11158677	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158678	0.84[ASN][1000 genomes]
rs11621977	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627207	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12878981	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12879556	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12887115	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1555397	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555398	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555399	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980614	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273596	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899206	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902477	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140327	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140470	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144333	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144624	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154258	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7155830	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7155911	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7156144	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7160654	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160944	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161368	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011307	0.83[ASN][1000 genomes]
rs8019176	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019974	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3357417	chr14:67980624-67983572	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67979800-67982600	Enhancers	Fetal Brain Male	brain
2	chr14:67980200-67981600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:67980400-67981600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr14:67980600-67981600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
5	chr14:67980600-67982600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:67980800-67981600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:67980800-67981600	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr14:67980800-67981600	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr14:67980800-67981600	Flanking Active TSS	Placenta	Placenta
10	chr14:67980800-67981600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr14:67980800-67981600	Bivalent/Poised TSS	NH-A	brain
12	chr14:67980800-67981800	Flanking Active TSS	Colonic Mucosa	Colon
13	chr14:67980800-67982400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:67980800-67982600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr14:67980800-67982600	Active TSS	Rectal Smooth Muscle	rectum
16	chr14:67981000-67981600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:67981000-67981600	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr14:67981000-67981600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr14:67981000-67981600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:67981000-67981600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr14:67981000-67981600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:67981000-67981600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:67981000-67981600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:67981000-67981600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr14:67981000-67981600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr14:67981000-67981600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr14:67981000-67981600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
28	chr14:67981000-67981600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr14:67981000-67981800	Flanking Bivalent TSS/Enh	Dnd41	blood
30	chr14:67981000-67982000	Active TSS	Primary hematopoietic stem cells	blood
31	chr14:67981000-67982000	Active TSS	Thymus	Thymus
32	chr14:67981000-67982400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr14:67981000-67982400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:67981000-67982400	Active TSS	Fetal Intestine Large	intestine
35	chr14:67981000-67982600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr14:67981000-67982600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr14:67981000-67982600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr14:67981000-67982600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr14:67981000-67982600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr14:67981000-67982600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:67981200-67981600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:67981200-67981600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:67981200-67981600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:67981200-67981600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr14:67981200-67981600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
46	chr14:67981200-67981600	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr14:67981200-67981600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:67981200-67981600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr14:67981200-67981600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:67981200-67981600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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