Variant report

Variant	rs4251465
Chromosome Location	chr12:44164169-44164170
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44157815..44161557-chr12:44162840..44166282,3	K562	blood:
2	chr12:44152520..44156018-chr12:44163756..44167060,4	K562	blood:
3	chr12:44162830..44166263-chr12:44204627..44207317,3	MCF-7	breast:
4	chr12:44157366..44160059-chr12:44163008..44167442,4	K562	blood:

Variant related genes	Relation type
ENSG00000129317	Chromatin interaction
ENSG00000198001	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1057190	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880552	0.80[EUR][1000 genomes]
rs10880553	0.80[EUR][1000 genomes]
rs10880554	0.87[CEU][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs10880555	0.87[CEU][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs10880556	0.80[EUR][1000 genomes]
rs10880557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880558	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880559	0.86[AMR][1000 genomes]
rs10880562	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880563	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880565	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880566	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182240	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182242	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182246	0.87[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11182249	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182250	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12301506	0.92[ASN][1000 genomes]
rs12302873	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12308611	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12310585	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12312327	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12315211	0.81[CHB][hapmap]
rs12319024	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3794262	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805198	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251459	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251460	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251463	0.88[AMR][1000 genomes]
rs4251466	0.84[TSI][hapmap];0.84[AMR][1000 genomes]
rs4251473	0.84[TSI][hapmap];0.82[AMR][1000 genomes]
rs4251489	0.88[AMR][1000 genomes]
rs4251496	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251497	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251527	0.87[CEU][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs4251532	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251533	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251545	0.84[TSI][hapmap]
rs4251555	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311465	0.85[CEU][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7954870	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7956245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7969729	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9783418	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9849	0.98[AFR][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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4251465	PUS7L	cis	Esophagus Muscularis	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44153800-44174200	Weak transcription	Right Ventricle	heart
2	chr12:44154000-44174000	Weak transcription	HSMMtube	muscle
3	chr12:44154200-44164400	Weak transcription	Fetal Lung	lung
4	chr12:44154200-44164600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:44154200-44172800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:44154200-44189600	Weak transcription	Brain Angular Gyrus	brain
7	chr12:44154200-44189600	Weak transcription	A549	lung
8	chr12:44154200-44194400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:44154200-44199200	Weak transcription	Gastric	stomach
10	chr12:44154400-44164200	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:44154400-44164200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:44154400-44164800	Weak transcription	Left Ventricle	heart
13	chr12:44154400-44165000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:44154400-44165000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:44154400-44168400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:44154400-44174200	Weak transcription	Colonic Mucosa	Colon
17	chr12:44154400-44178000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:44154400-44181200	Weak transcription	Aorta	Aorta
19	chr12:44154400-44189400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:44154400-44189400	Weak transcription	Fetal Kidney	kidney
21	chr12:44154600-44164200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:44154600-44164400	Weak transcription	Psoas Muscle	Psoas
23	chr12:44154600-44164400	Weak transcription	NH-A	brain
24	chr12:44154600-44167800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:44154600-44168200	Weak transcription	Esophagus	oesophagus
26	chr12:44154600-44172200	Weak transcription	Ovary	ovary
27	chr12:44154600-44172200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:44154600-44172600	Weak transcription	Lung	lung
29	chr12:44154600-44172800	Weak transcription	Brain Anterior Caudate	brain
30	chr12:44154600-44174400	Weak transcription	Fetal Intestine Small	intestine
31	chr12:44154600-44174800	Weak transcription	Small Intestine	intestine
32	chr12:44154600-44178000	Weak transcription	Fetal Stomach	stomach
33	chr12:44154600-44178000	Weak transcription	Spleen	Spleen
34	chr12:44154600-44189400	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:44154600-44199000	Weak transcription	Stomach Mucosa	stomach
36	chr12:44154800-44166000	Weak transcription	Brain Substantia Nigra	brain
37	chr12:44154800-44173200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:44155200-44164200	Weak transcription	Fetal Intestine Large	intestine
39	chr12:44155600-44164600	Weak transcription	NHLF	lung
40	chr12:44155600-44168600	Weak transcription	K562	blood
41	chr12:44156200-44172800	Weak transcription	Pancreas	Pancrea
42	chr12:44156600-44189400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:44156800-44164400	Weak transcription	Thymus	Thymus
44	chr12:44156800-44165600	Weak transcription	HUVEC	blood vessel
45	chr12:44157000-44164400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:44157800-44168600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:44158200-44164400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:44158200-44182800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:44158800-44164400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:44159000-44174800	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links