Variant report

Variant	rs4653635
Chromosome Location	chr1:225595690-225595691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:225595543-225595814	A549	lung:	n/a	chr1:225595653-225595664
2	POLR2A	chr1:225592461-225603516	K562	blood:	n/a	n/a
3	CEBPB	chr1:225595550-225595826	Hela-S3	cervix:	n/a	chr1:225595653-225595664
4	CEBPB	chr1:225595475-225595816	K562	blood:	n/a	chr1:225595653-225595664
5	CEBPB	chr1:225595495-225595812	HepG2	liver:	n/a	chr1:225595653-225595664
6	CEBPB	chr1:225595502-225595833	IMR90	lung:	n/a	chr1:225595653-225595664

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225594352..225597022-chr1:225628425..225630121,2	K562	blood:

Variant related genes	Relation type
ENSG00000203691	TF binding region
LBR	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1011319	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10799306	0.82[AMR][1000 genomes]
rs10915816	0.92[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.92[TSI][hapmap]
rs11551874	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11799479	0.89[ASW][hapmap];0.86[GIH][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes]
rs12066771	0.90[ASN][1000 genomes]
rs17557867	0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2230419	0.94[ASW][hapmap];0.84[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766929	0.82[AMR][1000 genomes]
rs4576637	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs4999299	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426067	0.81[TSI][hapmap]
rs6702433	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7406	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551643	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs9783086	0.91[AMR][1000 genomes];0.95[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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4653635	PYCR2	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225568200-225595800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:225570800-225600000	Weak transcription	HSMMtube	muscle
3	chr1:225578000-225597800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:225578000-225599200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:225580800-225599200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:225581600-225596200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:225582000-225597800	Weak transcription	Brain Anterior Caudate	brain
8	chr1:225582200-225610400	Strong transcription	Fetal Thymus	thymus
9	chr1:225582600-225597800	Weak transcription	Fetal Brain Male	brain
10	chr1:225583200-225597800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:225583400-225598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:225583400-225601600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:225583400-225601600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:225583400-225601800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:225583600-225597800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:225583600-225602200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:225583800-225597800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:225583800-225601600	Strong transcription	Primary B cells from cord blood	blood
19	chr1:225584000-225603800	Weak transcription	Psoas Muscle	Psoas
20	chr1:225584200-225610600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:225584400-225600600	Weak transcription	Stomach Mucosa	stomach
22	chr1:225584800-225609800	Strong transcription	Dnd41	blood
23	chr1:225584800-225610400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:225585000-225610400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:225585200-225596000	Strong transcription	Liver	Liver
29	chr1:225585200-225609800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:225585800-225610000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:225585800-225610000	Strong transcription	K562	blood
32	chr1:225585800-225610400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:225586000-225601400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr1:225586000-225607000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:225587000-225601000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:225587400-225598200	Weak transcription	Fetal Heart	heart
37	chr1:225587600-225596000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr1:225587600-225596200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:225587600-225607000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:225587600-225607800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:225587800-225596400	Strong transcription	GM12878-XiMat	blood
42	chr1:225587800-225610000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:225588200-225596000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:225588200-225600600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr1:225588200-225605400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr1:225588200-225608200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:225588200-225610200	Strong transcription	Osteobl	bone
48	chr1:225588400-225604200	Strong transcription	HUVEC	blood vessel
49	chr1:225588600-225608400	Strong transcription	Hela-S3	cervix
50	chr1:225588600-225609800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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