Variant report

Variant	rs4902250
Chromosome Location	chr14:64343703-64343704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12588807	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs12588955	0.86[ASN][1000 genomes]
rs12589453	0.83[ASN][1000 genomes]
rs12878037	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12878348	1.00[ASN][1000 genomes]
rs12879374	0.86[ASN][1000 genomes]
rs12881942	1.00[ASN][1000 genomes]
rs12882429	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12894963	1.00[ASN][1000 genomes]
rs17751301	0.87[CEU][hapmap]
rs17824268	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs33976862	0.87[CEU][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap]
rs34328391	0.86[ASN][1000 genomes]
rs34451919	0.86[ASN][1000 genomes]
rs34556545	0.93[ASN][1000 genomes]
rs34561759	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35009554	1.00[ASN][1000 genomes]
rs35033077	0.83[ASN][1000 genomes]
rs35168922	1.00[ASN][1000 genomes]
rs35302448	1.00[ASN][1000 genomes]
rs35984502	0.86[ASN][1000 genomes]
rs4459477	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs66684280	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67289344	1.00[ASN][1000 genomes]
rs71416319	1.00[ASN][1000 genomes]
rs7144308	0.86[ASN][1000 genomes]
rs7401191	1.00[ASN][1000 genomes]
rs8015210	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs8023195	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64321400-64350200	Weak transcription	Fetal Stomach	stomach
2	chr14:64327400-64355200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:64327600-64360000	Weak transcription	Gastric	stomach
4	chr14:64331200-64356400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:64335200-64360000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:64336800-64362800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:64337000-64357200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:64337000-64365200	Weak transcription	Fetal Thymus	thymus
9	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
10	chr14:64338000-64353800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:64338000-64355200	Weak transcription	Primary B cells from cord blood	blood
12	chr14:64339400-64366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:64340200-64344000	Enhancers	Left Ventricle	heart
14	chr14:64340400-64345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:64340600-64343800	Enhancers	Psoas Muscle	Psoas
16	chr14:64340600-64345000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:64340600-64345200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr14:64341000-64356400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:64341000-64357200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:64341200-64344000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:64341200-64345000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:64341200-64346200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:64341200-64348400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:64341200-64348600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr14:64341200-64348800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr14:64341200-64351000	Weak transcription	Right Ventricle	heart
27	chr14:64341200-64352200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr14:64341200-64352400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:64341200-64354000	Weak transcription	Dnd41	blood
30	chr14:64341200-64354800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:64341200-64356400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr14:64341200-64356400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:64341200-64356600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:64341200-64357000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:64341200-64357200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:64341200-64357200	Weak transcription	Fetal Lung	lung
37	chr14:64341200-64357200	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:64341400-64344800	Weak transcription	Colonic Mucosa	Colon
39	chr14:64341400-64352400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:64341400-64352600	Weak transcription	Stomach Mucosa	stomach
41	chr14:64341400-64356600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:64341400-64356600	Weak transcription	Fetal Kidney	kidney
43	chr14:64341400-64366800	Weak transcription	Primary T cells from cord blood	blood
44	chr14:64341600-64345000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr14:64341800-64345000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr14:64342000-64344600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:64342000-64350800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:64342200-64344200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:64342400-64344000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:64342400-64345200	Enhancers	Skeletal Muscle Female	skeletal muscle

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