Variant report

Variant	rs4522769
Chromosome Location	chr3:69194113-69194114
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	chr3:69187723..69190468-chr3:69191360..69194154,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10865644	1.00[ASN][1000 genomes]
rs10865645	1.00[ASN][1000 genomes]
rs11128114	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11128118	1.00[CEU][hapmap]
rs11712024	1.00[CEU][hapmap]
rs11719988	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12053848	1.00[CEU][hapmap]
rs17005393	0.96[ASN][1000 genomes]
rs28591428	0.93[ASN][1000 genomes]
rs34890270	0.93[ASN][1000 genomes]
rs4241384	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4241395	0.94[ASN][1000 genomes]
rs4389485	0.95[ASN][1000 genomes]
rs4407408	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4425262	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4446215	0.83[EUR][1000 genomes]
rs4461426	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4493438	0.83[EUR][1000 genomes]
rs4504171	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4508787	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4541413	1.00[CEU][hapmap]
rs4560302	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563416	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563417	0.97[ASN][1000 genomes]
rs4589943	0.91[ASN][1000 genomes]
rs4621333	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57774890	0.83[EUR][1000 genomes]
rs58181265	0.83[EUR][1000 genomes]
rs58860053	0.83[EUR][1000 genomes]
rs61006449	0.83[EUR][1000 genomes]
rs6549187	1.00[CEU][hapmap]
rs6779055	0.83[EUR][1000 genomes]
rs6792358	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6797538	0.83[EUR][1000 genomes]
rs6799247	0.83[EUR][1000 genomes]
rs6804718	0.83[EUR][1000 genomes]
rs6804872	1.00[CEU][hapmap]
rs72924889	0.91[ASN][1000 genomes]
rs72924892	0.94[ASN][1000 genomes]
rs72924899	0.83[EUR][1000 genomes]
rs72924901	0.83[EUR][1000 genomes]
rs72926297	1.00[EUR][1000 genomes]
rs72926723	0.83[EUR][1000 genomes]
rs72926734	0.83[EUR][1000 genomes]
rs7635939	0.83[EUR][1000 genomes]
rs7638543	0.83[EUR][1000 genomes]
rs9838728	1.00[CEU][hapmap]
rs9853587	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9883017	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[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	nsv876933	chr3:69059023-69227379	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69190400-69194200	Enhancers	Hela-S3	cervix
2	chr3:69191400-69195000	Enhancers	K562	blood
3	chr3:69192200-69194200	Weak transcription	HSMMtube	muscle
4	chr3:69192400-69194200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
5	chr3:69192800-69194200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr3:69192800-69194400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:69193000-69194200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
8	chr3:69193000-69194400	Enhancers	Fetal Muscle Leg	muscle
9	chr3:69193200-69194600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr3:69193400-69194600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr3:69193400-69195200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:69193400-69195200	Enhancers	Placenta	Placenta
13	chr3:69193600-69194200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr3:69193600-69194200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr3:69193600-69194400	Enhancers	Psoas Muscle	Psoas
16	chr3:69193600-69194600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr3:69193600-69195200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:69193800-69194200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:69193800-69194200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:69193800-69194200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr3:69193800-69194200	Enhancers	Thymus	Thymus
22	chr3:69193800-69194400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:69193800-69194400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr3:69193800-69194400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:69193800-69194600	Enhancers	Primary hematopoietic stem cells	blood
26	chr3:69193800-69194600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr3:69193800-69194600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr3:69193800-69194600	Enhancers	Fetal Thymus	thymus
29	chr3:69193800-69194600	Enhancers	Dnd41	blood
30	chr3:69193800-69194800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:69193800-69195000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr3:69193800-69195000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr3:69193800-69195000	Enhancers	Brain Substantia Nigra	brain
34	chr3:69193800-69195200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:69194000-69194400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:69194000-69194400	Enhancers	Brain Anterior Caudate	brain
37	chr3:69194000-69195000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:69194000-69195200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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