Variant report

Variant	rs249808
Chromosome Location	chr5:14478994-14478995
allele	C/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	chr5:14473731-14479703	U87	brain:	n/a	n/a
2	POLR2A	chr5:14469339-14485909	U87	brain:	n/a	n/a
3	POLR2A	chr5:14478971-14479550	U87	brain:	n/a	n/a
4	POLR2A	chr5:14478935-14479550	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14476510..14479044-chr5:14485239..14487824,2	K562	blood:

Variant related genes	Relation type
TRIO	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17428704	0.84[EUR][1000 genomes]
rs62345051	0.84[EUR][1000 genomes]
rs62345052	0.84[EUR][1000 genomes]
rs62345053	0.84[EUR][1000 genomes]
rs6863759	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv461981	chr5:14426611-14509903	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv597240	chr5:14426611-14509903	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv4725	chr5:14469602-14514446	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14446800-14511400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14450800-14509000	Strong transcription	Primary B cells from peripheral blood	blood
3	chr5:14458200-14509200	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:14458400-14490000	Strong transcription	Adipose Nuclei	Adipose
5	chr5:14458600-14490400	Strong transcription	Fetal Stomach	stomach
6	chr5:14458800-14509000	Strong transcription	Liver	Liver
7	chr5:14458800-14510600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:14459400-14508800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:14459400-14509000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:14460600-14490600	Strong transcription	Stomach Smooth Muscle	stomach
11	chr5:14463200-14481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:14464400-14487800	Strong transcription	Fetal Intestine Large	intestine
13	chr5:14464800-14487400	Strong transcription	Primary B cells from cord blood	blood
14	chr5:14464800-14511400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:14465200-14487600	Strong transcription	A549	lung
16	chr5:14465200-14488800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:14465200-14494400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:14465400-14483800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr5:14465600-14487800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:14465800-14483600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:14466200-14486200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr5:14466400-14480800	Weak transcription	Thymus	Thymus
23	chr5:14466400-14481200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:14466600-14480800	Weak transcription	Psoas Muscle	Psoas
25	chr5:14468000-14483600	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:14468200-14483800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr5:14468200-14509000	Strong transcription	Ovary	ovary
28	chr5:14468400-14511000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:14470000-14486800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr5:14470200-14486800	Strong transcription	Fetal Muscle Leg	muscle
31	chr5:14470400-14487400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:14470400-14487400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:14470600-14486000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:14470600-14486400	Strong transcription	Fetal Kidney	kidney
35	chr5:14470600-14490600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr5:14470600-14509000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:14470600-14509800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:14470800-14479600	Strong transcription	GM12878-XiMat	blood
39	chr5:14470800-14486600	Strong transcription	Brain Anterior Caudate	brain
40	chr5:14470800-14488600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:14470800-14502800	Strong transcription	HSMMtube	muscle
42	chr5:14471000-14488600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:14471200-14483800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:14471200-14484400	Strong transcription	Aorta	Aorta
45	chr5:14471200-14509000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:14471400-14483200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr5:14471400-14484000	Strong transcription	Hela-S3	cervix
48	chr5:14471400-14487000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr5:14471400-14489600	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:14471400-14490000	Strong transcription	Left Ventricle	heart

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