Variant report

Variant	rs3784049
Chromosome Location	chr14:72721101-72721102
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72720189..72722386-chr14:72732098..72734975,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10131012	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10134489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10134542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10142099	0.86[YRI][hapmap]
rs10143449	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10149098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10150159	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10150242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1076317	0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs11848300	0.86[JPT][hapmap]
rs11849202	0.87[ASN][1000 genomes]
rs12148024	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs12432346	0.84[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12432632	0.86[ASN][1000 genomes]
rs12894979	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1402056	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs1402058	0.83[JPT][hapmap]
rs1402061	0.86[JPT][hapmap]
rs1520326	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1544487	1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1558071	0.96[ASN][1000 genomes]
rs1558073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1568404	0.81[JPT][hapmap]
rs17180251	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17180265	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2079502	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2108466	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2238212	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2238213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2238215	0.96[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2238216	0.96[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2238217	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2238218	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2238243	0.91[JPT][hapmap]
rs2238244	0.91[JPT][hapmap]
rs2239257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2239258	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2239261	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2283408	0.83[JPT][hapmap]
rs2332806	0.86[JPT][hapmap]
rs2332807	1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2332808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4903003	0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs4903004	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574055	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6574056	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6574057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs699369	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs71448391	0.93[ASN][1000 genomes]
rs7157673	0.83[JPT][hapmap]
rs7350728	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs740337	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs758004	0.93[ASN][1000 genomes]
rs763507	0.91[JPT][hapmap]
rs8007922	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs847241	0.92[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs847304	0.86[ASN][1000 genomes]
rs847345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1041492	chr14:72634606-72768970	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72706600-72721200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:72712000-72722200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72712800-72722600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72718000-72721400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:72718400-72721200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:72718400-72721800	Enhancers	Fetal Heart	heart
7	chr14:72719600-72722000	Enhancers	Left Ventricle	heart
8	chr14:72719600-72723000	Enhancers	Placenta	Placenta
9	chr14:72720400-72721800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr14:72720400-72722000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:72720400-72722000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:72720600-72721800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr14:72720800-72721600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:72721000-72721800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:72721000-72721800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:72721000-72722000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:72721000-72722000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr14:72721000-72722000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:72721000-72722000	Enhancers	Right Atrium	heart
20	chr14:72721000-72722000	Enhancers	Right Ventricle	heart

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