Variant report

Variant	rs406811
Chromosome Location	chr14:65323141-65323142
allele	C/G
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	chr14:65280294..65282900-chr14:65322430..65324178,2	MCF-7	breast:
3	chr14:65293069..65296062-chr14:65321540..65323696,2	K562	blood:
4	chr14:65313283..65315169-chr14:65321927..65324245,2	K562	blood:
5	chr14:65315035..65317899-chr14:65322274..65327051,4	MCF-7	breast:
6	chr14:65318120..65320301-chr14:65322198..65325013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1003370	0.97[EUR][1000 genomes]
rs10151551	1.00[CEU][hapmap];0.93[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];0.93[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	0.82[YRI][hapmap]
rs1951489	0.82[EUR][1000 genomes]
rs1951495	0.83[YRI][hapmap]
rs1957422	0.82[EUR][1000 genomes]
rs1957430	0.97[EUR][1000 genomes]
rs1957433	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[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];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs230722	1.00[CEU][hapmap];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];0.93[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];0.93[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];0.93[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];0.93[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];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs397901	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399508	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];0.93[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];0.93[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];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435335	0.93[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];0.88[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];0.86[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573584	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[YRI][hapmap];0.84[AMR][1000 genomes]
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	0.84[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];0.93[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];0.93[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65315400-65324600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:65319400-65324200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr14:65319400-65332600	Weak transcription	Right Atrium	heart
4	chr14:65320200-65328400	Weak transcription	Fetal Heart	heart
5	chr14:65320600-65323200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:65321000-65324000	Enhancers	Psoas Muscle	Psoas
7	chr14:65321000-65324800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr14:65321200-65323200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr14:65321400-65323200	Enhancers	Left Ventricle	heart
10	chr14:65321400-65324000	Enhancers	Fetal Muscle Leg	muscle
11	chr14:65322400-65323200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:65322400-65323200	Bivalent Enhancer	Placenta	Placenta
13	chr14:65322400-65323800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:65322400-65324000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:65322400-65325400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:65322400-65325600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr14:65322600-65323200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr14:65322600-65323200	Enhancers	Right Ventricle	heart
19	chr14:65322600-65323600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr14:65322600-65323600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:65322600-65323600	Enhancers	K562	blood
22	chr14:65322600-65323800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr14:65322600-65325600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr14:65322600-65325600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr14:65322800-65323600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr14:65322800-65328200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:65323000-65323400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr14:65323000-65323400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:65323000-65324800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:65323000-65330000	Weak transcription	Fetal Muscle Trunk	muscle

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