Variant report

Variant	rs4930420
Chromosome Location	chr11:64307057-64307058
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63951331..63952996-chr11:64306690..64308597,2	K562	blood:

Variant related genes	Relation type
ENSG00000168439	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11231808	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11231814	1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231815	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11231816	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362644	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12363578	0.92[ASN][1000 genomes]
rs12417589	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12789978	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17372915	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs2078267	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs2164495	1.00[ASN][1000 genomes]
rs34484509	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34812986	1.00[ASN][1000 genomes]
rs4930194	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930195	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4930423	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930426	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs6591859	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7102027	0.85[ASN][1000 genomes]
rs7123852	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7124676	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs71456318	1.00[ASN][1000 genomes]
rs7936185	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1035485	chr11:64228847-64354869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv897692	chr11:64305452-64386526	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr11:64304000-64308400	Enhancers	Primary hematopoietic stem cells	blood
2	chr11:64304000-64310800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr11:64305000-64311200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:64305200-64307200	Enhancers	Brain Hippocampus Middle	brain
5	chr11:64305200-64307600	Enhancers	Adipose Nuclei	Adipose
6	chr11:64305400-64307800	Enhancers	Fetal Brain Female	brain
7	chr11:64305400-64308000	Enhancers	Fetal Brain Male	brain
8	chr11:64305600-64307400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr11:64305600-64307800	Enhancers	Fetal Thymus	thymus
10	chr11:64305600-64310000	Weak transcription	Hela-S3	cervix
11	chr11:64305800-64308000	Enhancers	Brain Cingulate Gyrus	brain
12	chr11:64306000-64308200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:64306000-64309000	Enhancers	Placenta	Placenta
14	chr11:64306200-64307400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:64306200-64307600	Enhancers	Primary B cells from cord blood	blood
16	chr11:64306200-64308000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:64306200-64309800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:64306400-64308600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:64306600-64307200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:64306600-64308200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr11:64306800-64307200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:64306800-64307600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr11:64306800-64307600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:64306800-64307800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr11:64306800-64308200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:64307000-64307400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:64307000-64308800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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