Variant report

Variant	rs10139546
Chromosome Location	chr14:55916100-55916101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55913599..55916759-chr14:56004997..56009666,4	MCF-7	breast:
2	chr14:55913503..55916476-chr14:55916660..55918746,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10140902	1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11845802	0.86[AMR][1000 genomes]
rs28620798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6573025	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs7143921	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55912600-55922000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:55912800-55916200	Enhancers	Osteobl	bone
3	chr14:55913000-55919000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr14:55913200-55916400	Enhancers	HMEC	breast
5	chr14:55913200-55916600	Enhancers	HUVEC	blood vessel
6	chr14:55913600-55921200	Weak transcription	HSMMtube	muscle
7	chr14:55913600-55925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:55913800-55916200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:55913800-55917400	Weak transcription	Small Intestine	intestine
10	chr14:55913800-55917600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:55913800-55918200	Weak transcription	Left Ventricle	heart
12	chr14:55913800-55919200	Enhancers	Fetal Heart	heart
13	chr14:55913800-55920400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:55914000-55920600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:55914000-55920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:55914000-55921000	Weak transcription	Brain Anterior Caudate	brain
17	chr14:55915000-55917600	Weak transcription	Esophagus	oesophagus
18	chr14:55915000-55918000	Weak transcription	Right Atrium	heart
19	chr14:55915000-55918600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:55915200-55917400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:55915200-55918600	Weak transcription	Fetal Stomach	stomach
22	chr14:55915200-55920600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr14:55915400-55916200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:55915400-55916200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:55915400-55916600	Enhancers	A549	lung
26	chr14:55915400-55916800	Weak transcription	Stomach Mucosa	stomach
27	chr14:55915400-55918000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr14:55915400-55918200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:55915400-55918200	Weak transcription	Fetal Muscle Leg	muscle
30	chr14:55915400-55919000	Enhancers	NHEK	skin
31	chr14:55915400-55920600	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:55915600-55916800	Enhancers	Hela-S3	cervix
33	chr14:55915600-55917200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:55915600-55917600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:55915600-55918000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:55915600-55918000	Weak transcription	NHLF	lung
37	chr14:55915600-55918200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:55915600-55918200	Weak transcription	NHDF-Ad	bronchial
39	chr14:55915600-55921000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:55915800-55918200	Weak transcription	NH-A	brain
41	chr14:55915800-55920800	Weak transcription	Fetal Brain Female	brain
42	chr14:55916000-55916200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr14:55916000-55916400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:55916000-55916400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:55916000-55916600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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