Variant report

Variant	rs73251178
Chromosome Location	chr14:31121112-31121113
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	POLR2A	chr14:31121043-31121648	PBDE	blood:	n/a	n/a
2	GATA1	chr14:31120964-31121740	PBDE	blood:	n/a	n/a

Variant related genes	Relation type
SCFD1	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17091494	1.00[AMR][1000 genomes]
rs17096939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17096960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097001	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097006	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097128	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097173	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57373297	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57482448	1.00[AMR][1000 genomes]
rs58678418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59660692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251159	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251163	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73254547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264350	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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS 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	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31092200-31133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:31092200-31133200	Weak transcription	Esophagus	oesophagus
3	chr14:31092400-31122800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:31093600-31127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:31094000-31122000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
8	chr14:31096000-31167400	Weak transcription	Gastric	stomach
9	chr14:31097200-31133800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:31099600-31133800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:31099600-31134000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:31100600-31123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:31102000-31123600	Strong transcription	NHDF-Ad	bronchial
14	chr14:31102800-31128800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:31104000-31121200	Weak transcription	NHEK	skin
16	chr14:31104200-31121200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:31104200-31133200	Weak transcription	Aorta	Aorta
18	chr14:31104800-31121200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:31109400-31125200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr14:31109400-31125800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:31110600-31141800	Weak transcription	Stomach Mucosa	stomach
22	chr14:31112600-31121200	Weak transcription	Fetal Stomach	stomach
23	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
24	chr14:31114400-31134000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:31114600-31121200	Weak transcription	Hela-S3	cervix
26	chr14:31114800-31121200	Weak transcription	A549	lung
27	chr14:31115000-31122200	Weak transcription	Psoas Muscle	Psoas
28	chr14:31115000-31124000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:31115000-31124800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr14:31115000-31124800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:31115000-31133400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:31115200-31123800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr14:31115200-31125400	Strong transcription	HepG2	liver
35	chr14:31115200-31138600	Weak transcription	Fetal Heart	heart
36	chr14:31115200-31159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:31115400-31121200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:31115400-31122000	Weak transcription	Fetal Intestine Small	intestine
39	chr14:31115400-31125000	Weak transcription	Brain Germinal Matrix	brain
40	chr14:31115400-31133000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:31115400-31133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:31115600-31130600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:31116000-31126400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr14:31116400-31133800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:31116600-31128800	Weak transcription	Right Atrium	heart
46	chr14:31116800-31132800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:31117200-31130600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:31117200-31134000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:31117400-31125400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:31117600-31133600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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