Variant report

Variant	rs34305407
Chromosome Location	chr1:93174215-93174216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93167180..93169532-chr1:93173013..93175472,3	K562	blood:
2	chr1:93165676..93168735-chr1:93171801..93174880,3	K562	blood:

Variant related genes	Relation type
ENSG00000201317	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11164803	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164814	0.83[EUR][1000 genomes]
rs11164816	0.83[EUR][1000 genomes]
rs11577426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11578004	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578098	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11581705	0.83[EUR][1000 genomes]
rs11583778	0.81[EUR][1000 genomes]
rs11585590	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588545	0.83[EUR][1000 genomes]
rs11589122	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11589660	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11591094	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11800409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800771	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11800848	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11803097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805007	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11805229	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11805698	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807962	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11808092	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11809055	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11809700	0.94[EUR][1000 genomes]
rs11810217	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12731107	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12733238	0.83[EUR][1000 genomes]
rs12738833	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12743005	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743520	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12746893	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756698	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12756786	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1333743	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1415296	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2051841	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34202284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34221961	0.83[EUR][1000 genomes]
rs34231012	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34250288	0.86[EUR][1000 genomes]
rs34288890	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34343030	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34734076	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34761380	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34812295	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34843292	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35038369	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35241270	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35311203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35435370	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35526187	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35612297	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35699160	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35705463	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35901796	0.87[EUR][1000 genomes]
rs36099538	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36114576	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3790450	0.83[EUR][1000 genomes]
rs4642892	0.82[EUR][1000 genomes]
rs56044027	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59864761	0.83[EUR][1000 genomes]
rs67026262	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67646822	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67876779	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs68160001	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71652503	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724515	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72724555	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72724574	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72724586	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724587	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794348	chr1:93090476-93192932	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1802611	chr1:93090476-93219907	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv997898	chr1:93167128-93228156	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34305407	FAM69A	cis	Artery Tibial	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93098400-93205400	Weak transcription	NHLF	lung
2	chr1:93123400-93176200	Weak transcription	Psoas Muscle	Psoas
3	chr1:93123600-93178800	Weak transcription	Aorta	Aorta
4	chr1:93123600-93213400	Weak transcription	Gastric	stomach
5	chr1:93146600-93175600	Weak transcription	NHEK	skin
6	chr1:93155800-93213400	Weak transcription	Lung	lung
7	chr1:93157800-93175600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:93159000-93174800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:93160800-93175200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:93160800-93175200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:93160800-93175200	Weak transcription	HSMM	muscle
12	chr1:93160800-93177000	Weak transcription	Ovary	ovary
13	chr1:93161000-93175200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:93161000-93175600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:93161000-93176800	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:93161000-93197400	Weak transcription	Primary B cells from cord blood	blood
17	chr1:93161000-93197800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:93161000-93199000	Weak transcription	Left Ventricle	heart
19	chr1:93162200-93175400	Weak transcription	HSMMtube	muscle
20	chr1:93163800-93177400	Weak transcription	Placenta	Placenta
21	chr1:93163800-93190000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:93164200-93175400	Weak transcription	Small Intestine	intestine
23	chr1:93167200-93175200	Weak transcription	Osteobl	bone
24	chr1:93167400-93175200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:93167400-93175200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:93167600-93177800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:93169000-93175200	Weak transcription	HMEC	breast
28	chr1:93170200-93175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:93170200-93189800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:93171200-93175200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:93171400-93175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:93171400-93175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:93171400-93175600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:93171400-93177400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:93171600-93175000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:93171600-93175200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:93171600-93175200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:93171600-93175200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:93171600-93175200	Weak transcription	Fetal Intestine Large	intestine
40	chr1:93171600-93175200	Weak transcription	NH-A	brain
41	chr1:93172400-93175200	Weak transcription	Stomach Mucosa	stomach
42	chr1:93173400-93175200	Weak transcription	HepG2	liver
43	chr1:93173400-93177800	Enhancers	K562	blood
44	chr1:93174000-93174400	Enhancers	Fetal Heart	heart
45	chr1:93174000-93174400	Enhancers	HUVEC	blood vessel
46	chr1:93174000-93174600	Enhancers	Brain Angular Gyrus	brain
47	chr1:93174000-93175600	Enhancers	A549	lung
48	chr1:93174200-93174400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:93174200-93177000	Enhancers	Liver	Liver

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