Variant report

Variant	rs73276626
Chromosome Location	chr14:68157511-68157512
allele	G/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	chr14:68157218-68157553	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:68156846-68159048	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:68152032..68159100-chr14:68160764..68163993,10	K562	blood:
2	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
3	chr14:68153591..68158250-chr14:68160092..68166006,8	K562	blood:
4	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258466	TF binding region
ENSG00000100568	Chromatin interaction
ENSG00000072042	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10483803	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104541	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2234503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2234510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61308952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274546	0.86[AFR][1000 genomes]
rs73274550	0.90[AFR][1000 genomes]
rs73274563	0.85[AFR][1000 genomes]
rs73274575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274582	0.94[AFR][1000 genomes]
rs73274584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276629	0.81[AFR][1000 genomes]
rs73276636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr14:68142400-68160600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:68142400-68160800	Weak transcription	Right Atrium	heart
3	chr14:68143000-68159600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:68143000-68160200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:68143200-68160600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:68143400-68159600	Strong transcription	Dnd41	blood
7	chr14:68143400-68160800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:68143600-68159600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:68143800-68159400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:68143800-68159800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr14:68143800-68160000	Strong transcription	Fetal Thymus	thymus
12	chr14:68143800-68160200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:68144200-68158400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:68144200-68159400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:68144200-68159600	Strong transcription	HepG2	liver
16	chr14:68144200-68159800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr14:68144200-68160000	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr14:68144200-68160000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:68144200-68160000	Strong transcription	Primary T cells from cord blood	blood
20	chr14:68144200-68160200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr14:68144200-68160400	Strong transcription	Fetal Muscle Leg	muscle
22	chr14:68144200-68160800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:68144600-68160600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:68144800-68159800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:68144800-68159800	Strong transcription	Liver	Liver
26	chr14:68147600-68159600	Strong transcription	NH-A	brain
27	chr14:68147600-68160200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:68148000-68159800	Strong transcription	A549	lung
29	chr14:68148000-68160000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:68148200-68159800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:68148200-68159800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:68148400-68159600	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr14:68148400-68160000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:68148600-68159200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr14:68148600-68159400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr14:68148600-68159800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr14:68148600-68159800	Strong transcription	HSMM	muscle
38	chr14:68149000-68159400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:68149000-68159400	Strong transcription	GM12878-XiMat	blood
40	chr14:68149000-68159600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:68149000-68159800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:68149000-68160000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr14:68149200-68159400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:68149200-68159600	Strong transcription	NHDF-Ad	bronchial
45	chr14:68149200-68159800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:68149200-68160000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:68149400-68159200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:68149400-68159400	Strong transcription	Placenta	Placenta
49	chr14:68149600-68159400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:68149600-68159600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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