Variant report

Variant	rs34215167
Chromosome Location	chr1:176086769-176086770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10494498	0.86[EUR][1000 genomes]
rs10798446	0.81[EUR][1000 genomes]
rs10913128	0.81[AMR][1000 genomes]
rs10913133	0.81[EUR][1000 genomes]
rs10913134	0.81[EUR][1000 genomes]
rs10913135	0.81[EUR][1000 genomes]
rs10913137	0.80[EUR][1000 genomes]
rs10913142	0.82[EUR][1000 genomes]
rs10913143	0.82[EUR][1000 genomes]
rs10913144	0.82[EUR][1000 genomes]
rs10913145	0.82[EUR][1000 genomes]
rs10913147	0.82[EUR][1000 genomes]
rs10913148	0.81[EUR][1000 genomes]
rs12033997	0.83[EUR][1000 genomes]
rs12034255	0.82[EUR][1000 genomes]
rs12039741	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12040241	0.80[EUR][1000 genomes]
rs12042918	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12047295	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12049077	0.82[EUR][1000 genomes]
rs12409108	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12724558	0.87[ASN][1000 genomes]
rs12755507	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17354120	0.84[EUR][1000 genomes]
rs2861672	0.82[EUR][1000 genomes]
rs34511428	0.81[EUR][1000 genomes]
rs3748618	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4526571	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6673760	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678628	0.81[EUR][1000 genomes]
rs6678812	0.81[EUR][1000 genomes]
rs6684140	0.82[EUR][1000 genomes]
rs7514517	0.83[EUR][1000 genomes]
rs7517503	0.82[EUR][1000 genomes]
rs7522843	0.81[EUR][1000 genomes]
rs7553759	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv872564	chr1:176027978-176102808	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv548246	chr1:176043797-176136273	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34215167	RP11-318C24.2	cis	Whole Blood	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176048800-176107000	Weak transcription	HepG2	liver
2	chr1:176054400-176131600	Weak transcription	NH-A	brain
3	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
4	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
5	chr1:176068600-176087600	Weak transcription	NHLF	lung
6	chr1:176069000-176090200	Weak transcription	Fetal Kidney	kidney
7	chr1:176069000-176116400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:176069000-176139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:176069200-176087200	Weak transcription	Right Ventricle	heart
10	chr1:176069200-176123200	Weak transcription	Osteobl	bone
11	chr1:176069200-176126600	Weak transcription	HMEC	breast
12	chr1:176069200-176138800	Weak transcription	HUVEC	blood vessel
13	chr1:176069400-176121200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:176070200-176087600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:176070400-176087400	Weak transcription	Brain Substantia Nigra	brain
16	chr1:176070400-176087600	Weak transcription	Spleen	Spleen
17	chr1:176070400-176091600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:176070400-176097800	Weak transcription	A549	lung
19	chr1:176070400-176107400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:176070400-176126400	Weak transcription	Brain Anterior Caudate	brain
21	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
22	chr1:176070600-176087800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:176070800-176102200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:176070800-176102600	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:176070800-176110600	Weak transcription	Small Intestine	intestine
26	chr1:176071000-176091600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:176071600-176088600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:176071600-176117800	Weak transcription	Gastric	stomach
29	chr1:176072000-176140600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:176072400-176087600	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:176072400-176108600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:176072600-176107400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:176072800-176114600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:176072800-176114800	Weak transcription	NHDF-Ad	bronchial
35	chr1:176072800-176126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:176076200-176088800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:176076200-176102000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:176076200-176126000	Weak transcription	Ovary	ovary
39	chr1:176076200-176127800	Weak transcription	Esophagus	oesophagus
40	chr1:176079800-176088400	Weak transcription	HSMMtube	muscle
41	chr1:176079800-176105400	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:176080000-176103400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:176080400-176087800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:176080800-176087800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:176081200-176114800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:176081400-176088400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:176082400-176087200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:176083000-176126000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:176083200-176087000	Strong transcription	Dnd41	blood
50	chr1:176083400-176091000	Weak transcription	Primary hematopoietic stem cells	blood

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