Variant report

Variant	rs399508
Chromosome Location	chr14:65325171-65325172
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65323025..65326234-chr14:65450738..65453663,4	MCF-7	breast:
2	chr14:65324493..65326622-chr14:65332005..65334164,2	MCF-7	breast:
3	chr14:65315035..65317899-chr14:65322274..65327051,4	MCF-7	breast:
4	chr14:65315994..65317932-chr14:65325129..65327129,2	K562	blood:

Variant related genes	Relation type
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1003370	0.97[EUR][1000 genomes]
rs10151551	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10162522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1122339	0.97[EUR][1000 genomes]
rs11844283	0.82[EUR][1000 genomes]
rs12147448	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs1547087	0.84[YRI][hapmap]
rs1951489	0.82[EUR][1000 genomes]
rs1951495	0.80[CHB][hapmap];0.85[YRI][hapmap]
rs1957422	0.82[EUR][1000 genomes]
rs1957430	0.97[EUR][1000 genomes]
rs1957433	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.97[EUR][1000 genomes]
rs1983769	0.82[EUR][1000 genomes]
rs2104170	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs230721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs230722	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs368818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs374461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs375797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs378391	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3813424	0.97[EUR][1000 genomes]
rs389370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs395112	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs397901	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435006	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435335	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899151	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4902323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58989463	0.82[EUR][1000 genomes]
rs61989891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573584	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[YRI][hapmap];0.84[AMR][1000 genomes]
rs7144718	0.80[CHB][hapmap]
rs7149121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149446	0.82[EUR][1000 genomes]
rs7158624	0.82[EUR][1000 genomes]
rs762072	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008229	0.97[EUR][1000 genomes]
rs8013371	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8022462	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs9323455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65319400-65332600	Weak transcription	Right Atrium	heart
2	chr14:65320200-65328400	Weak transcription	Fetal Heart	heart
3	chr14:65322400-65325400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:65322400-65325600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr14:65322600-65325600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:65322600-65325600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:65322800-65328200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:65323000-65330000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:65323200-65325200	Weak transcription	Left Ventricle	heart
10	chr14:65323600-65325200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:65323600-65328400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:65324200-65325600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr14:65324400-65325600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:65324600-65325200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr14:65324600-65325400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr14:65324600-65325400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:65324600-65325600	Enhancers	Psoas Muscle	Psoas
18	chr14:65324600-65327400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr14:65324800-65325200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:65324800-65325400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:65324800-65325400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr14:65324800-65325400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr14:65324800-65325400	Genic enhancers	K562	blood
24	chr14:65324800-65325600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:65324800-65325600	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr14:65324800-65325800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:65325000-65325400	Weak transcription	Right Ventricle	heart

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