Variant report

Variant	rs527540012
Chromosome Location	chr14:35755690-35755691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35753115..35758805-chr14:35759547..35762790,7	MCF-7	breast:
2	chr14:35750852..35757164-chr14:35871890..35876148,8	MCF-7	breast:
3	chr14:35749937..35752594-chr14:35754898..35756875,2	MCF-7	breast:
4	chr14:35755418..35758074-chr14:35799307..35801251,2	MCF-7	breast:
5	chr14:35755052..35758727-chr14:35759764..35761284,4	MCF-7	breast:
6	chr14:35755322..35757615-chr14:35761312..35763223,3	MCF-7	breast:
7	chr14:35755039..35756974-chr14:35862913..35865202,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100902	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000265530	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
7	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1794822	chr14:35755087-35761366	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35684600-35760800	Weak transcription	HSMM	muscle
2	chr14:35706800-35760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:35716800-35760600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:35716800-35761000	Weak transcription	Spleen	Spleen
5	chr14:35717000-35760800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:35722000-35760800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:35724200-35756400	Weak transcription	Left Ventricle	heart
8	chr14:35727200-35756400	Weak transcription	Stomach Mucosa	stomach
9	chr14:35727200-35761000	Weak transcription	NHLF	lung
10	chr14:35730200-35760600	Weak transcription	Fetal Brain Female	brain
11	chr14:35731800-35756000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:35734400-35760600	Weak transcription	Right Ventricle	heart
13	chr14:35734400-35760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:35736000-35760800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:35737400-35761000	Weak transcription	Gastric	stomach
16	chr14:35738800-35759400	Weak transcription	Placenta	Placenta
17	chr14:35740000-35756600	Weak transcription	NHEK	skin
18	chr14:35741200-35760800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:35742800-35755800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:35743200-35756400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:35743400-35760800	Weak transcription	HMEC	breast
22	chr14:35743600-35760800	Weak transcription	Brain Anterior Caudate	brain
23	chr14:35743800-35760800	Weak transcription	Osteobl	bone
24	chr14:35744000-35756200	Weak transcription	Liver	Liver
25	chr14:35744000-35757600	Weak transcription	Lung	lung
26	chr14:35744000-35760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:35744000-35760800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:35744000-35760800	Weak transcription	Brain Substantia Nigra	brain
29	chr14:35744000-35760800	Weak transcription	Fetal Lung	lung
30	chr14:35744000-35760800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:35744000-35761000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:35744400-35756200	Weak transcription	Fetal Intestine Large	intestine
33	chr14:35744400-35760800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:35744800-35760800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:35745000-35756600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:35745200-35760600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr14:35745200-35760800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:35745400-35760800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr14:35745600-35760800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:35745800-35760400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:35745800-35760800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:35746000-35760800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:35746000-35760800	Weak transcription	Brain Hippocampus Middle	brain
44	chr14:35746000-35760800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr14:35746000-35760800	Weak transcription	A549	lung
46	chr14:35746000-35761000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:35746200-35760800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr14:35746600-35756000	Weak transcription	Fetal Intestine Small	intestine
49	chr14:35746600-35760800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:35746600-35760800	Weak transcription	Aorta	Aorta

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