Variant report

Variant	rs55975681
Chromosome Location	chr14:67831235-67831236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:67831201-67831689	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67829435..67831419-chr14:67848497..67850545,2	MCF-7	breast:

Variant related genes	Relation type
EIF2S1	TF binding region
ATP6V1D	TF binding region
ENSG00000134001	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72717331	1.00[AMR][1000 genomes]
rs72717384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67827800-67831400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:67827800-67831400	Weak transcription	Left Ventricle	heart
3	chr14:67827800-67831400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:67827800-67831600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:67827800-67831800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:67827800-67832800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:67827800-67833600	Weak transcription	Lung	lung
8	chr14:67827800-67834000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:67827800-67834000	Weak transcription	Gastric	stomach
10	chr14:67827800-67834800	Weak transcription	Esophagus	oesophagus
11	chr14:67828000-67832000	Weak transcription	Colonic Mucosa	Colon
12	chr14:67828200-67831400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:67828200-67831400	Weak transcription	Fetal Muscle Leg	muscle
14	chr14:67828200-67831600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:67828200-67831600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr14:67828200-67833600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:67828200-67841600	Weak transcription	Aorta	Aorta
18	chr14:67828400-67831400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:67828400-67831400	Weak transcription	HSMMtube	muscle
20	chr14:67828400-67831600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:67828400-67831800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr14:67828400-67832000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:67828400-67832200	Weak transcription	Thymus	Thymus
24	chr14:67828400-67832800	Weak transcription	Fetal Intestine Small	intestine
25	chr14:67828400-67837800	Weak transcription	Right Ventricle	heart
26	chr14:67828400-67854000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:67828600-67831400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:67828600-67831400	Weak transcription	NHLF	lung
29	chr14:67828600-67831600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:67828600-67832000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:67828600-67832000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:67828600-67832600	Weak transcription	Fetal Kidney	kidney
33	chr14:67828600-67832800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:67828600-67832800	Weak transcription	Fetal Stomach	stomach
35	chr14:67828600-67838000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:67828600-67854600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:67828800-67832200	Weak transcription	Primary B cells from cord blood	blood
38	chr14:67828800-67832200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:67828800-67854000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:67829000-67831800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:67829000-67832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:67829000-67832000	Weak transcription	Colon Smooth Muscle	Colon
43	chr14:67829000-67855200	Strong transcription	Fetal Thymus	thymus
44	chr14:67829200-67836400	Strong transcription	NH-A	brain
45	chr14:67829200-67852000	Strong transcription	Placenta	Placenta
46	chr14:67829200-67853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:67829200-67853600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:67829400-67831400	Weak transcription	Brain Anterior Caudate	brain
49	chr14:67829400-67831600	Weak transcription	Fetal Intestine Large	intestine
50	chr14:67829400-67832000	Weak transcription	Brain Germinal Matrix	brain

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