Variant report

Variant	rs35347227
Chromosome Location	chr11:9368737-9368738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9368708..9370210-chr11:9480305..9483007,2	K562	blood:
2	chr11:9363321..9365351-chr11:9367412..9370052,2	K562	blood:
3	chr11:9367453..9371339-chr11:9383916..9387622,3	K562	blood:
4	chr11:9368736..9371339-chr11:9384685..9387958,4	K562	blood:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction
ENSG00000268403	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11042260	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11042282	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11042294	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1136330	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11600994	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11601340	0.87[AMR][1000 genomes]
rs11601383	0.87[AMR][1000 genomes]
rs11601789	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11604198	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11604607	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11605674	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11606740	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4910036	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4910038	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4910039	0.87[AMR][1000 genomes]
rs4910042	0.88[EUR][1000 genomes]
rs4910043	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4910044	0.88[EUR][1000 genomes]
rs4910449	1.00[AFR][1000 genomes]
rs4910450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4910456	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55640358	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs55793943	0.93[AMR][1000 genomes]
rs55980718	0.87[AMR][1000 genomes]
rs55989000	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56081129	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6486283	0.93[EUR][1000 genomes]
rs7104373	0.84[EUR][1000 genomes]
rs7115641	0.93[EUR][1000 genomes]
rs7115750	0.93[EUR][1000 genomes]
rs7394938	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7395754	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7396336	0.87[AMR][1000 genomes]
rs7396512	1.00[AFR][1000 genomes]
rs956516	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
4	nsv521969	chr11:9334961-9379005	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv975322	chr11:9363750-9395226	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35347227	AMPD3	cis	Whole Blood	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9351200-9368800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:9353200-9368800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:9365800-9368800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:9365800-9368800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:9366000-9368800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:9367200-9368800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:9368000-9369800	Enhancers	Primary T cells from cord blood	blood
8	chr11:9368000-9369800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:9368000-9370000	Enhancers	Fetal Thymus	thymus
10	chr11:9368200-9369800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:9368400-9369000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr11:9368400-9369200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:9368400-9369200	Enhancers	Fetal Heart	heart
14	chr11:9368400-9369400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr11:9368400-9369600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr11:9368400-9369600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr11:9368400-9369800	Enhancers	Primary hematopoietic stem cells	blood
18	chr11:9368400-9370000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:9368600-9369000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:9368600-9369200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr11:9368600-9369200	Enhancers	Dnd41	blood
22	chr11:9368600-9369200	Enhancers	K562	blood
23	chr11:9368600-9369400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:9368600-9369400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:9368600-9369600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:9368600-9369600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:9368600-9369600	Enhancers	Thymus	Thymus
28	chr11:9368600-9370000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr11:9368600-9370200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr11:9368600-9370600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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