Variant report

Variant	rs552431387
Chromosome Location	chr14:97273116-97273117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97271958..97274868-chr14:97298626..97301164,2	MCF-7	breast:
2	chr14:97271567..97274016-chr14:97278732..97280457,2	K562	blood:
3	chr14:97262824..97265554-chr14:97270271..97273136,2	MCF-7	breast:
4	chr14:97272734..97276764-chr14:97276840..97280627,4	K562	blood:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1052138	chr14:97271794-97322583	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv542180	chr14:97271794-97322583	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264800-97278400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr14:97264800-97288000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
4	chr14:97265000-97282000	Weak transcription	Fetal Thymus	thymus
5	chr14:97265200-97282200	Weak transcription	Primary T cells from cord blood	blood
6	chr14:97265200-97293200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:97265400-97274200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:97265400-97277400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:97265400-97278600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:97265400-97282600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:97265600-97277600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:97265600-97282200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:97265600-97282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:97265600-97291800	Weak transcription	A549	lung
15	chr14:97266200-97277600	Weak transcription	NHDF-Ad	bronchial
16	chr14:97266200-97277800	Weak transcription	HSMM	muscle
17	chr14:97266200-97282000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:97266200-97303200	Weak transcription	Hela-S3	cervix
19	chr14:97266800-97282200	Weak transcription	Thymus	Thymus
20	chr14:97268000-97275000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:97270200-97273200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr14:97270200-97274200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:97270400-97275000	Enhancers	Fetal Brain Male	brain
24	chr14:97270600-97278200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:97270800-97279000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr14:97271400-97273600	Enhancers	Brain Germinal Matrix	brain
27	chr14:97271400-97274200	Enhancers	Fetal Brain Female	brain
28	chr14:97271600-97284200	Weak transcription	NHLF	lung
29	chr14:97271600-97313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:97271800-97273600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:97271800-97277600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:97272000-97273600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:97272000-97282200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr14:97272200-97273600	Enhancers	GM12878-XiMat	blood
35	chr14:97272200-97278400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:97272400-97273400	Enhancers	Left Ventricle	heart
37	chr14:97272400-97273600	Strong transcription	Dnd41	blood
38	chr14:97272400-97273800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr14:97272400-97293800	Weak transcription	Primary B cells from cord blood	blood
40	chr14:97272600-97273400	Enhancers	NHEK	skin
41	chr14:97272600-97275200	Enhancers	HepG2	liver
42	chr14:97272600-97275400	Weak transcription	Pancreas	Pancrea
43	chr14:97272600-97277200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:97272800-97273200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr14:97272800-97274600	Weak transcription	K562	blood
46	chr14:97272800-97277600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:97272800-97287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:97273000-97273400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:97273000-97273400	Enhancers	Gastric	stomach
50	chr14:97273000-97273400	Enhancers	Spleen	Spleen

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