Variant report

Variant	rs562271086
Chromosome Location	chr14:56121048-56121049
allele	A/G
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	GATA1	chr14:56120510-56121717	PBDE	blood:	n/a	chr14:56121141-56121162 chr14:56121148-56121157 chr14:56121147-56121157 chr14:56120698-56120711 chr14:56121045-56121066
2	GATA3	chr14:56120863-56121242	MCF-7	breast:	n/a	chr14:56121141-56121162 chr14:56121148-56121157 chr14:56121147-56121157 chr14:56121045-56121066
3	JUND	chr14:56121014-56121201	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:56109854..56112064-chr14:56118999..56121625,2	K562	blood:
2	chr14:56120614..56122257-chr14:56126744..56128626,2	MCF-7	breast:
3	chr14:56120266..56122635-chr14:56124757..56126273,2	K562	blood:

Variant related genes	Relation type
KTN1	TF binding region
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1792376	chr14:56108007-56150151	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1283	chr14:56120059-56164729	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56087400-56132200	Strong transcription	Dnd41	blood
3	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:56088200-56129400	Weak transcription	Spleen	Spleen
5	chr14:56088200-56132200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:56088400-56121600	Weak transcription	Aorta	Aorta
7	chr14:56088400-56121800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:56088400-56153200	Weak transcription	Gastric	stomach
9	chr14:56092800-56135400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:56094400-56132600	Strong transcription	HSMM	muscle
11	chr14:56095000-56142200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:56097600-56145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:56098600-56121600	Weak transcription	Small Intestine	intestine
15	chr14:56099000-56128000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:56100200-56131000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:56101000-56132800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr14:56101800-56121600	Weak transcription	Pancreas	Pancrea
19	chr14:56101800-56123200	Weak transcription	Fetal Intestine Small	intestine
20	chr14:56101800-56128800	Weak transcription	Fetal Stomach	stomach
21	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
22	chr14:56102400-56121600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:56102400-56121600	Weak transcription	Esophagus	oesophagus
24	chr14:56102400-56145200	Weak transcription	Lung	lung
25	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
26	chr14:56103400-56130600	Weak transcription	Thymus	Thymus
27	chr14:56104600-56121600	Weak transcription	Ovary	ovary
28	chr14:56104600-56127600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:56104800-56121600	Weak transcription	Left Ventricle	heart
30	chr14:56104800-56128800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:56105000-56122600	Weak transcription	NHLF	lung
33	chr14:56105000-56129200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:56105000-56138200	Weak transcription	Psoas Muscle	Psoas
35	chr14:56106000-56150200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:56107000-56121600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr14:56109200-56132000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:56109200-56141800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr14:56109600-56131400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:56109800-56128000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr14:56109800-56139600	Weak transcription	Colonic Mucosa	Colon
43	chr14:56109800-56145400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:56110800-56125000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:56111800-56121400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr14:56111800-56127200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:56112800-56131200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:56113200-56131400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:56113400-56130000	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr14:56113400-56132000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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