Variant report

Variant	rs554234336
Chromosome Location	chr5:14671685-14671686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14670223..14672828-chr5:14683390..14686379,2	K562	blood:
2	chr5:14663385..14665837-chr5:14671199..14673342,3	K562	blood:
3	chr5:14662258..14667508-chr5:14670830..14674480,6	MCF-7	breast:
4	chr5:14671524..14673260-chr5:14708223..14710525,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261360	Chromatin interaction
ENSG00000154124	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv1801565	chr5:14671030-14684471	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14665600-14676600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:14666200-14672200	Weak transcription	Aorta	Aorta
3	chr5:14666400-14672200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:14666400-14673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:14666400-14673200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:14666400-14674200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:14666400-14675600	Weak transcription	Placenta	Placenta
8	chr5:14666400-14678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:14666400-14681600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:14666400-14688200	Weak transcription	Ovary	ovary
11	chr5:14666600-14672000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:14666600-14672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:14666600-14688200	Weak transcription	Brain Germinal Matrix	brain
14	chr5:14666800-14672000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:14666800-14672000	Weak transcription	HSMM	muscle
16	chr5:14666800-14672200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:14666800-14675600	Weak transcription	NHLF	lung
18	chr5:14666800-14675800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:14667000-14672200	Weak transcription	Brain Substantia Nigra	brain
20	chr5:14667000-14672400	Weak transcription	Brain Anterior Caudate	brain
21	chr5:14667000-14672400	Weak transcription	HSMMtube	muscle
22	chr5:14667000-14675600	Weak transcription	Thymus	Thymus
23	chr5:14667000-14676600	Weak transcription	Fetal Kidney	kidney
24	chr5:14667000-14680000	Weak transcription	Fetal Brain Female	brain
25	chr5:14667000-14681200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:14667000-14690400	Weak transcription	Fetal Brain Male	brain
27	chr5:14667200-14672000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:14667200-14672600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:14667400-14676600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:14668200-14672200	Weak transcription	Gastric	stomach
31	chr5:14668200-14672200	Weak transcription	Lung	lung
32	chr5:14668200-14672200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:14668200-14672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:14668200-14674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:14668600-14672000	Weak transcription	Colonic Mucosa	Colon
36	chr5:14668600-14672000	Weak transcription	Pancreas	Pancrea
37	chr5:14668600-14672200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr5:14668600-14672200	Weak transcription	Psoas Muscle	Psoas
39	chr5:14668600-14672200	Weak transcription	Right Atrium	heart
40	chr5:14668600-14672200	Weak transcription	Spleen	Spleen
41	chr5:14668600-14675400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr5:14668600-14675400	Weak transcription	Fetal Stomach	stomach
43	chr5:14668600-14675600	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:14668600-14677000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr5:14668600-14677200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:14668800-14672000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:14668800-14672200	Weak transcription	Right Ventricle	heart
48	chr5:14668800-14672400	Enhancers	HepG2	liver
49	chr5:14668800-14673400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr5:14668800-14674000	Enhancers	Primary T helper cells PMA-I stimulated	--

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