Variant report

Variant	rs573913416
Chromosome Location	chr14:36788895-36788896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:36780477..36782487-chr14:36786743..36788959,2	MCF-7	breast:
2	chr14:36778592..36784393-chr14:36785409..36790832,9	K562	blood:
3	chr14:36783190..36784933-chr14:36788355..36791806,3	MCF-7	breast:
4	chr14:36768912..36770474-chr14:36787292..36789766,2	MCF-7	breast:
5	chr14:36538483..36541249-chr14:36788541..36791272,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257585	Chromatin interaction
ENSG00000151332	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv3429093	chr14:36674701-36827119	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3367425	chr14:36674721-36827089	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1042408	chr14:36693910-36810554	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv542043	chr14:36693910-36810554	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv2752577	chr14:36768276-36805529	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1040487	chr14:36770813-36805621	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv832771	chr14:36771007-36964041	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1054427	chr14:36780743-36819931	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv518747	chr14:36787226-36809926	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36767400-36789200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:36767400-36789200	Weak transcription	Spleen	Spleen
3	chr14:36773400-36789200	Weak transcription	Esophagus	oesophagus
4	chr14:36779400-36789000	Weak transcription	Colonic Mucosa	Colon
5	chr14:36780400-36789200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:36780400-36789200	Weak transcription	Small Intestine	intestine
7	chr14:36780600-36789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:36781000-36789000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:36781000-36789200	Weak transcription	Gastric	stomach
10	chr14:36781000-36789200	Weak transcription	Left Ventricle	heart
11	chr14:36781000-36789200	Weak transcription	Lung	lung
12	chr14:36781000-36789200	Weak transcription	Pancreas	Pancrea
13	chr14:36786600-36790200	Active TSS	GM12878-XiMat	blood
14	chr14:36786600-36790400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:36787000-36790200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:36787200-36790400	Active TSS	HMEC	breast
17	chr14:36787400-36790600	Active TSS	Duodenum Mucosa	Duodenum
18	chr14:36787800-36790400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:36787800-36790400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr14:36787800-36790400	Active TSS	Fetal Lung	lung
21	chr14:36787800-36790600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:36787800-36790600	Active TSS	K562	blood
23	chr14:36788000-36789200	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr14:36788000-36789200	Flanking Active TSS	HUVEC	blood vessel
25	chr14:36788000-36790400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr14:36788000-36790400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:36788000-36790400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr14:36788000-36790400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:36788000-36790400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr14:36788000-36790400	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr14:36788000-36790400	Active TSS	Right Atrium	heart
32	chr14:36788000-36790400	Active TSS	Stomach Smooth Muscle	stomach
33	chr14:36788200-36789000	Flanking Active TSS	Liver	Liver
34	chr14:36788200-36790000	Active TSS	Fetal Intestine Large	intestine
35	chr14:36788200-36790200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:36788200-36790200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr14:36788200-36790400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:36788200-36790400	Active TSS	NHDF-Ad	bronchial
39	chr14:36788200-36790400	Active TSS	NHLF	lung
40	chr14:36788200-36790600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:36788400-36789000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr14:36788400-36789000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr14:36788400-36789200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr14:36788400-36789200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:36788400-36789400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:36788400-36789600	Active TSS	Fetal Stomach	stomach
47	chr14:36788400-36790000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:36788400-36790000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:36788400-36790000	Active TSS	Fetal Muscle Leg	muscle
50	chr14:36788400-36790000	Active TSS	Fetal Thymus	thymus

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