Variant report

Variant	rs34363169
Chromosome Location	chr3:49537712-49537713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49530765..49533090-chr3:49535053..49538549,4	K562	blood:
2	chr3:49536506..49538909-chr3:49540133..49543021,2	K562	blood:
3	chr3:49521377..49523560-chr3:49535457..49537721,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10212296	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1050088	0.94[ASN][1000 genomes]
rs1050450	0.83[AMR][1000 genomes]
rs10640	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10865955	0.82[ASN][1000 genomes]
rs11130199	0.94[ASN][1000 genomes]
rs11130202	0.94[ASN][1000 genomes]
rs11130203	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130206	0.84[ASN][1000 genomes]
rs11706370	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11708955	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11711485	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11711536	0.81[AMR][1000 genomes]
rs11712569	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713474	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11715915	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11716974	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11719996	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720264	0.94[ASN][1000 genomes]
rs11720458	0.86[ASN][1000 genomes]
rs11720597	0.86[EUR][1000 genomes]
rs11922013	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11926781	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12330269	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488065	0.88[ASN][1000 genomes]
rs12489092	0.94[ASN][1000 genomes]
rs13062429	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13064576	0.84[EUR][1000 genomes]
rs13079082	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13079643	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13087851	0.85[AMR][1000 genomes]
rs13090388	0.83[AMR][1000 genomes]
rs1568661	0.94[ASN][1000 genomes]
rs17080528	0.83[AMR][1000 genomes]
rs1800668	0.85[AMR][1000 genomes]
rs1801143	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1987628	0.85[AMR][1000 genomes]
rs2312461	0.94[ASN][1000 genomes]
rs34196454	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34293138	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34427167	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34588335	0.83[AMR][1000 genomes]
rs35115732	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35169793	0.83[AMR][1000 genomes]
rs35261698	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35701831	0.94[ASN][1000 genomes]
rs35999162	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3811697	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811699	0.83[AMR][1000 genomes]
rs3870337	0.94[ASN][1000 genomes]
rs3870338	0.94[ASN][1000 genomes]
rs3877784	0.94[ASN][1000 genomes]
rs3924462	0.94[ASN][1000 genomes]
rs3926569	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4241406	0.86[ASN][1000 genomes]
rs4625	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4855836	0.94[ASN][1000 genomes]
rs4855855	0.85[ASN][1000 genomes]
rs4855859	0.94[ASN][1000 genomes]
rs4855861	0.94[ASN][1000 genomes]
rs4855864	0.94[ASN][1000 genomes]
rs4855866	0.80[ASN][1000 genomes]
rs56116382	0.87[ASN][1000 genomes]
rs62261185	0.81[ASN][1000 genomes]
rs6446264	0.85[AMR][1000 genomes]
rs6446272	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6446277	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67216675	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67485053	0.85[AMR][1000 genomes]
rs6766131	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6766581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6779524	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6793308	0.83[AMR][1000 genomes]
rs6797664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6809216	0.83[AMR][1000 genomes]
rs6997	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71324962	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71615484	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7371895	0.82[ASN][1000 genomes]
rs7622302	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623659	0.83[AMR][1000 genomes]
rs7630869	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7633271	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637999	0.94[ASN][1000 genomes]
rs7643845	0.94[ASN][1000 genomes]
rs7646366	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7648841	0.85[AMR][1000 genomes]
rs885592	0.82[ASN][1000 genomes]
rs9814873	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9818590	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9821311	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9827021	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9837027	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9841110	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9850072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853683	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858280	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9858418	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9859556	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9871380	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9875617	0.87[EUR][1000 genomes]
rs9878943	0.86[AMR][1000 genomes];0.82[EUR][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	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34363169	FAM212A	cis	Muscle Skeletal	GTEx
rs34363169	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs34363169	IHPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49509600-49537800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:49509800-49547800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:49510000-49547800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:49514600-49548000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:49515400-49547800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:49515400-49547800	Weak transcription	Fetal Brain Female	brain
7	chr3:49515400-49548800	Weak transcription	Esophagus	oesophagus
8	chr3:49517000-49547800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr3:49517200-49547800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:49522200-49547800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:49522400-49537800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:49522400-49548000	Weak transcription	Spleen	Spleen
13	chr3:49523400-49548000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:49523400-49548000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:49523600-49548200	Weak transcription	Brain Substantia Nigra	brain
16	chr3:49526000-49547800	Weak transcription	Dnd41	blood
17	chr3:49526000-49548000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr3:49526200-49537800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:49527600-49547800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:49528200-49539600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:49529600-49568600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:49530400-49547800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:49531000-49548000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:49531200-49538000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr3:49531200-49547800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:49531400-49539600	Weak transcription	Fetal Stomach	stomach
27	chr3:49531400-49547600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:49531400-49547800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr3:49531400-49547800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:49531400-49547800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr3:49531600-49537800	Weak transcription	Fetal Thymus	thymus
32	chr3:49531600-49539200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:49531600-49547800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:49531600-49547800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:49531600-49547800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:49531800-49537800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:49531800-49537800	Weak transcription	Adipose Nuclei	Adipose
38	chr3:49531800-49537800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr3:49531800-49539600	Weak transcription	Primary T cells from cord blood	blood
40	chr3:49531800-49547400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr3:49531800-49547800	Weak transcription	Brain Germinal Matrix	brain
42	chr3:49532000-49537800	Weak transcription	Brain Anterior Caudate	brain
43	chr3:49532000-49537800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:49532600-49537800	Weak transcription	Brain Angular Gyrus	brain
45	chr3:49532600-49537800	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:49533000-49537800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:49533000-49537800	Weak transcription	Aorta	Aorta
48	chr3:49533000-49547800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr3:49533000-49547800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:49533000-49547800	Weak transcription	Ovary	ovary

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