Variant report

Variant	rs3911110
Chromosome Location	chr2:11318477-11318478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11315684..11318531-chr2:11354814..11356618,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10178332	0.94[CEU][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10183296	0.80[EUR][1000 genomes]
rs10192593	0.89[YRI][hapmap]
rs10192994	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs10194620	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs10203916	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs10205944	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs10206334	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10210600	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10454126	1.00[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10754957	0.97[EUR][1000 genomes]
rs11694729	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11695377	1.00[CEU][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12692434	1.00[CEU][hapmap];0.93[YRI][hapmap];0.87[EUR][1000 genomes]
rs12692435	0.80[YRI][hapmap]
rs12692437	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs12990641	0.87[CEU][hapmap]
rs13015560	0.83[CEU][hapmap]
rs13017021	0.87[CEU][hapmap]
rs1515224	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1562748	1.00[CEU][hapmap];0.96[YRI][hapmap];0.84[EUR][1000 genomes]
rs1562749	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs1868584	0.94[CEU][hapmap]
rs2044758	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs2060635	0.80[EUR][1000 genomes]
rs2084577	1.00[CEU][hapmap];0.96[YRI][hapmap];0.84[EUR][1000 genomes]
rs2100228	0.92[EUR][1000 genomes]
rs2122384	0.83[YRI][hapmap]
rs2167126	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2357996	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs4303693	0.94[CEU][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4668720	0.80[YRI][hapmap]
rs4669699	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4669709	0.83[EUR][1000 genomes]
rs4669710	1.00[CEU][hapmap];0.96[YRI][hapmap];0.84[EUR][1000 genomes]
rs4669711	0.84[EUR][1000 genomes]
rs4669713	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs4669715	0.93[CEU][hapmap]
rs62118012	0.89[EUR][1000 genomes]
rs6432183	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs6432184	0.94[CEU][hapmap]
rs6432186	1.00[CEU][hapmap];0.96[YRI][hapmap];0.84[EUR][1000 genomes]
rs6706126	0.92[EUR][1000 genomes]
rs6710031	0.94[CEU][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6713273	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs6713382	0.80[EUR][1000 genomes]
rs6721445	1.00[CEU][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6730673	0.89[YRI][hapmap]
rs6733312	1.00[CEU][hapmap];0.90[YRI][hapmap];0.84[EUR][1000 genomes]
rs6735090	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6736240	0.83[YRI][hapmap]
rs6749456	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[EUR][1000 genomes]
rs6755196	1.00[CEU][hapmap];0.96[YRI][hapmap];0.84[EUR][1000 genomes]
rs6755337	0.89[YRI][hapmap]
rs6760802	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs7355446	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs7355489	0.89[YRI][hapmap]
rs753770	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs7558664	0.89[YRI][hapmap]
rs7563468	0.92[YRI][hapmap]
rs7563928	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs7568064	0.80[YRI][hapmap]
rs7573458	0.86[EUR][1000 genomes]
rs7575837	0.80[YRI][hapmap]
rs7593091	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9287728	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs965665	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs9808228	0.94[EUR][1000 genomes]
rs9967898	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012083	chr2:11316299-11350604	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3395022	chr2:11316915-11426380	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3911110	PQLC3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11329400	Weak transcription	Gastric	stomach
2	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
3	chr2:11296400-11318800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:11296600-11319200	Weak transcription	Fetal Lung	lung
5	chr2:11296800-11379800	Weak transcription	Small Intestine	intestine
6	chr2:11297600-11394400	Weak transcription	Right Ventricle	heart
7	chr2:11299200-11357000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:11301400-11330400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:11301800-11324600	Weak transcription	Primary B cells from cord blood	blood
10	chr2:11302400-11321400	Weak transcription	Fetal Intestine Small	intestine
11	chr2:11302400-11326200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:11302400-11335600	Weak transcription	Lung	lung
13	chr2:11304400-11321400	Weak transcription	Esophagus	oesophagus
14	chr2:11304400-11321400	Weak transcription	Fetal Stomach	stomach
15	chr2:11304400-11325200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:11304400-11326400	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:11304400-11329200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:11309800-11327200	Weak transcription	K562	blood
19	chr2:11309800-11335600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:11310000-11319200	Weak transcription	Adipose Nuclei	Adipose
21	chr2:11310000-11337200	Weak transcription	Ovary	ovary
22	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
23	chr2:11312800-11319400	Weak transcription	Fetal Intestine Large	intestine
24	chr2:11313800-11319000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:11314600-11329600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:11314600-11332200	Weak transcription	Colonic Mucosa	Colon
27	chr2:11314600-11364200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:11314800-11321400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:11315600-11319200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:11315600-11319400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:11315600-11321600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:11315800-11320000	Weak transcription	Left Ventricle	heart
33	chr2:11315800-11321800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:11315800-11322000	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:11315800-11322800	Weak transcription	Fetal Thymus	thymus
36	chr2:11315800-11326400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr2:11315800-11327400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:11315800-11329200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:11315800-11335200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:11315800-11336200	Weak transcription	Brain Anterior Caudate	brain
41	chr2:11315800-11336400	Weak transcription	GM12878-XiMat	blood
42	chr2:11315800-11336600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:11315800-11339000	Weak transcription	Spleen	Spleen
44	chr2:11315800-11340400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:11315800-11367400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:11316000-11326400	Weak transcription	HSMMtube	muscle
47	chr2:11316000-11331200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:11316000-11332200	Weak transcription	Psoas Muscle	Psoas
49	chr2:11316000-11338000	Weak transcription	Brain Substantia Nigra	brain
50	chr2:11316200-11319200	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links