Variant report

Variant	rs6573033
Chromosome Location	chr14:55919060-55919061
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	chr14:55917476..55919752-chr14:55927927..55929751,2	MCF-7	breast:
2	chr14:55911475..55914836-chr14:55916178..55919121,4	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10131672	0.80[ASN][1000 genomes]
rs10134905	0.96[ASN][1000 genomes]
rs10137395	0.96[ASN][1000 genomes]
rs10144034	0.96[ASN][1000 genomes]
rs10146713	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10150596	0.96[ASN][1000 genomes]
rs11158040	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11627405	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11627790	0.91[ASN][1000 genomes]
rs11845228	0.91[ASN][1000 genomes]
rs12431542	0.96[ASN][1000 genomes]
rs12886860	0.91[ASN][1000 genomes]
rs12887653	0.96[ASN][1000 genomes]
rs12887846	0.83[ASN][1000 genomes]
rs12888181	0.96[ASN][1000 genomes]
rs12888191	0.90[ASN][1000 genomes]
rs12888234	0.95[ASN][1000 genomes]
rs12888361	0.96[ASN][1000 genomes]
rs1572613	0.96[ASN][1000 genomes]
rs2152975	0.96[ASN][1000 genomes]
rs2152976	0.96[ASN][1000 genomes]
rs2185036	0.96[ASN][1000 genomes]
rs28478984	0.96[ASN][1000 genomes]
rs34652660	0.83[ASN][1000 genomes]
rs4243600	0.96[ASN][1000 genomes]
rs4898864	0.87[ASN][1000 genomes]
rs4898865	0.96[ASN][1000 genomes]
rs4901563	0.96[ASN][1000 genomes]
rs4901564	0.96[ASN][1000 genomes]
rs4901565	0.96[ASN][1000 genomes]
rs4901566	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4901568	0.96[ASN][1000 genomes]
rs4901569	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4901570	0.96[ASN][1000 genomes]
rs61976569	0.89[ASN][1000 genomes]
rs61976570	0.93[ASN][1000 genomes]
rs61976571	0.96[ASN][1000 genomes]
rs6573028	0.96[ASN][1000 genomes]
rs6573030	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573031	0.96[ASN][1000 genomes]
rs6573032	0.96[ASN][1000 genomes]
rs7142204	0.96[ASN][1000 genomes]
rs7143800	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7146080	0.89[ASN][1000 genomes]
rs7146170	0.96[ASN][1000 genomes]
rs7146269	0.93[ASN][1000 genomes]
rs7146306	0.88[ASN][1000 genomes]
rs7146472	0.93[ASN][1000 genomes]
rs7147968	0.95[ASN][1000 genomes]
rs7148481	0.96[ASN][1000 genomes]
rs7149622	0.96[ASN][1000 genomes]
rs8009706	0.96[ASN][1000 genomes]
rs8019270	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8020152	0.96[ASN][1000 genomes]
rs955256	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs955257	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs998871	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55912600-55922000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:55913600-55921200	Weak transcription	HSMMtube	muscle
3	chr14:55913600-55925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:55913800-55919200	Enhancers	Fetal Heart	heart
5	chr14:55913800-55920400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:55914000-55920600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:55914000-55920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:55914000-55921000	Weak transcription	Brain Anterior Caudate	brain
9	chr14:55915200-55920600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:55915400-55920600	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:55915600-55921000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:55915800-55920800	Weak transcription	Fetal Brain Female	brain
13	chr14:55916600-55920600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:55917000-55921000	Enhancers	HUVEC	blood vessel
15	chr14:55917000-55921400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:55917400-55921000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:55917400-55921400	Weak transcription	GM12878-XiMat	blood
18	chr14:55917800-55921000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:55918000-55919200	Enhancers	NHLF	lung
20	chr14:55918200-55919400	Enhancers	Osteobl	bone
21	chr14:55918400-55920800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:55918600-55919200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr14:55918600-55919800	Weak transcription	Ovary	ovary
24	chr14:55918600-55920200	Weak transcription	Small Intestine	intestine
25	chr14:55918600-55920400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:55918600-55920400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:55918600-55920600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr14:55918600-55920600	Weak transcription	HMEC	breast
29	chr14:55918600-55920800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr14:55918600-55920800	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:55918600-55920800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:55918800-55920400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:55918800-55920400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:55918800-55920600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:55918800-55920600	Weak transcription	Adipose Nuclei	Adipose
36	chr14:55918800-55920600	Weak transcription	Stomach Mucosa	stomach
37	chr14:55918800-55920800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:55918800-55920800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:55918800-55920800	Weak transcription	Fetal Stomach	stomach
40	chr14:55918800-55921000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:55918800-55921000	Weak transcription	Fetal Muscle Leg	muscle
42	chr14:55918800-55921000	Weak transcription	Pancreas	Pancrea
43	chr14:55918800-55921200	Weak transcription	Right Atrium	heart
44	chr14:55919000-55920200	Weak transcription	Hela-S3	cervix
45	chr14:55919000-55920400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:55919000-55920400	Weak transcription	A549	lung
47	chr14:55919000-55920400	Weak transcription	NHEK	skin
48	chr14:55919000-55920600	Weak transcription	NH-A	brain
49	chr14:55919000-55920800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:55919000-55920800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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