Variant report

Variant	rs11601522
Chromosome Location	chr11:63958409-63958410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63929801..63939249-chr11:63945151..63958671,77	MCF-7	breast:
2	chr11:63957240..63958875-chr11:63969168..63971062,2	MCF-7	breast:
3	chr11:63958164..63961175-chr11:64073026..64075417,3	MCF-7	breast:
4	chr11:63957637..63959858-chr11:64001168..64003198,2	MCF-7	breast:
5	chr11:63955085..63958830-chr11:63958900..63961430,4	MCF-7	breast:
6	chr11:63920929..63923512-chr11:63957225..63959261,2	MCF-7	breast:
7	chr11:63950774..63958537-chr11:64070493..64074690,13	MCF-7	breast:
8	chr11:63951197..63955095-chr11:63955593..63958792,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173153	Chromatin interaction
ENSG00000173511	Chromatin interaction
ENSG00000256116	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000168439	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11603192	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11603384	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11603538	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11604782	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12418535	0.85[ASN][1000 genomes]
rs12420070	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1860368	0.90[EUR][1000 genomes]
rs2282491	0.88[ASN][1000 genomes]
rs2282492	0.88[ASN][1000 genomes]
rs2429455	0.89[EUR][1000 genomes]
rs2515241	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2845597	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3741404	0.81[EUR][1000 genomes]
rs3888316	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs594942	0.82[EUR][1000 genomes]
rs595880	0.82[EUR][1000 genomes]
rs60452247	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6591836	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7102177	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7111753	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7112960	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
6	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
7	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
8	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
9	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a
11	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
12	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
13	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
14	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
15	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
16	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
17	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
18	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
19	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
20	nsv468595	chr11:63953121-64027888	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
21	nsv555187	chr11:63953121-64027888	Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11601522	TRPT1	cis	Muscle Skeletal	GTEx
rs11601522	TRPT1	cis	Heart Left Ventricle	GTEx
rs11601522	PPP1R14B	cis	Muscle Skeletal	GTEx
rs11601522	NUDT22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63954600-63960000	Weak transcription	Gastric	stomach
2	chr11:63954600-63967400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:63954800-63960000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:63954800-63960000	Weak transcription	Aorta	Aorta
5	chr11:63955000-63958800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr11:63955000-63959400	Weak transcription	Psoas Muscle	Psoas
7	chr11:63955000-63959600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:63955000-63960000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:63955000-63960000	Weak transcription	Esophagus	oesophagus
10	chr11:63955000-63960600	Weak transcription	Fetal Kidney	kidney
11	chr11:63955000-63969400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:63955200-63959400	Weak transcription	Ovary	ovary
13	chr11:63955200-63959600	Weak transcription	NHEK	skin
14	chr11:63955200-63959800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:63955200-63959800	Weak transcription	Right Ventricle	heart
16	chr11:63955200-63960000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:63955200-63960000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:63955200-63960000	Weak transcription	HSMMtube	muscle
19	chr11:63955200-63960000	Weak transcription	NHDF-Ad	bronchial
20	chr11:63955200-63960400	Weak transcription	HMEC	breast
21	chr11:63955200-63960800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:63955200-63971600	Strong transcription	Fetal Intestine Small	intestine
23	chr11:63955200-63974400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:63955200-63975000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:63955200-63975200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:63955400-63959800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:63955400-63959800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:63955400-63960000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:63955400-63960000	Weak transcription	HUVEC	blood vessel
30	chr11:63955400-63960400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:63955400-63962000	Weak transcription	Small Intestine	intestine
32	chr11:63955600-63958600	Enhancers	HepG2	liver
33	chr11:63955600-63959200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:63955600-63959200	Weak transcription	Lung	lung
35	chr11:63955800-63958600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:63955800-63958800	Strong transcription	HSMM	muscle
37	chr11:63955800-63960600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr11:63955800-63971200	Strong transcription	Fetal Stomach	stomach
39	chr11:63955800-63975400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:63956000-63959800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:63956000-63960800	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chr11:63956000-63973600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:63956200-63959400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:63956200-63959800	Weak transcription	NHLF	lung
45	chr11:63956200-63960000	Weak transcription	Primary B cells from cord blood	blood
46	chr11:63956200-63960000	Weak transcription	Colonic Mucosa	Colon
47	chr11:63956200-63960000	Weak transcription	Left Ventricle	heart
48	chr11:63956200-63960000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:63956200-63962000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:63956200-63964000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links