Variant report

Variant	rs4561187
Chromosome Location	chr11:33067368-33067369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33061105..33063023-chr11:33066640..33070494,3	MCF-7	breast:
2	chr11:33060104..33064178-chr11:33064220..33068631,6	K562	blood:
3	chr11:33060104..33063412-chr11:33064220..33068420,5	K562	blood:
4	chr11:33066540..33068366-chr11:33072316..33075265,3	K562	blood:
5	chr11:33066866..33070509-chr11:33072993..33075884,4	K562	blood:

Variant related genes	Relation type
ENSG00000176148	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1033716	1.00[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10430851	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10767981	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10767986	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11032129	1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11032141	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1407044	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1964136	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2024967	1.00[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs2273539	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2273544	0.89[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28406816	0.96[EUR][1000 genomes]
rs3758743	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4261257	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4275605	0.84[EUR][1000 genomes]
rs4382878	0.89[EUR][1000 genomes]
rs4439489	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4442529	1.00[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap]
rs4755487	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6484638	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6484639	1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7108667	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7114010	0.80[AMR][1000 genomes]
rs7121724	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7125132	0.81[ASN][1000 genomes]
rs7125873	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7129799	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7130318	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72901281	0.95[EUR][1000 genomes]
rs7951757	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1040484	chr11:32951066-33093204	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1046198	chr11:32954100-33075142	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1041149	chr11:32981164-33496670	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1053823	chr11:32981164-33533356	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv897194	chr11:32993887-33471804	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv1040572	chr11:33008191-33518964	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv540989	chr11:33008191-33518964	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv1042860	chr11:33008191-33562490	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv540990	chr11:33008191-33562490	Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
12	nsv533840	chr11:33008192-33595324	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv1051521	chr11:33008435-33239765	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
14	nsv540991	chr11:33008435-33239765	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
16	nsv897195	chr11:33012493-33559186	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
17	nsv1053344	chr11:33028973-33499346	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
18	nsv1046243	chr11:33043155-33439216	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
19	nsv540992	chr11:33043155-33439216	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
20	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
21	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
22	nsv529212	chr11:33053073-33641691	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
23	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
24	nsv467786	chr11:33065394-33476703	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
25	nsv553994	chr11:33065394-33476703	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4561187	PIGCP1	cis	Artery Tibial	GTEx
rs4561187	TCP11L1	cis	multi-tissue	Pritchard
rs4561187	TCP11L1	cis	parietal	SCAN
rs4561187	TCP11L1	cis	lymphoblastoid	seeQTL
rs4561187	TCP11L1	cis	Artery Tibial	GTEx
rs4561187	TCP11L1	cis	Whole Blood	GTEx
rs4561187	LOC283267	Cis_1M	lymphoblastoid	RTeQTL
rs4561187	TCP11L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33062000-33073000	Weak transcription	Stomach Mucosa	stomach
2	chr11:33062000-33081000	Weak transcription	Spleen	Spleen
3	chr11:33062000-33081400	Weak transcription	Gastric	stomach
4	chr11:33062000-33081800	Weak transcription	Esophagus	oesophagus
5	chr11:33062000-33093600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:33062200-33067400	Weak transcription	Small Intestine	intestine
7	chr11:33062200-33074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:33062200-33079600	Weak transcription	Lung	lung
9	chr11:33062200-33079600	Weak transcription	Right Ventricle	heart
10	chr11:33062200-33085400	Weak transcription	Psoas Muscle	Psoas
11	chr11:33062600-33078400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:33062600-33084800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:33062600-33094200	Weak transcription	Fetal Heart	heart
14	chr11:33062800-33067400	Weak transcription	Liver	Liver
15	chr11:33062800-33069400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:33062800-33071200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:33062800-33079400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:33062800-33080400	Weak transcription	Fetal Brain Male	brain
19	chr11:33062800-33081200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:33062800-33081400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:33062800-33084600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:33062800-33084800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:33062800-33107400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:33063000-33068200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:33063000-33069200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:33063000-33078600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:33063000-33079400	Weak transcription	HUVEC	blood vessel
28	chr11:33063000-33080200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:33063000-33080800	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:33063000-33081000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:33063600-33075800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:33063600-33080600	Weak transcription	Fetal Kidney	kidney
33	chr11:33063600-33081000	Weak transcription	Brain Substantia Nigra	brain
34	chr11:33063600-33084800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr11:33064000-33067800	Enhancers	HMEC	breast
36	chr11:33064400-33067600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:33064600-33067600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr11:33064600-33069600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:33064600-33070400	Strong transcription	Primary T cells from cord blood	blood
40	chr11:33065000-33070000	Strong transcription	Brain Germinal Matrix	brain
41	chr11:33065200-33067600	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:33065200-33067800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr11:33065200-33068200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:33065200-33070400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:33065200-33070600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:33065400-33067400	Strong transcription	Brain Hippocampus Middle	brain
47	chr11:33065400-33067800	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr11:33065400-33067800	Strong transcription	Brain Anterior Caudate	brain
49	chr11:33065400-33067800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:33065400-33067800	Strong transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links