Variant report

Variant	rs11227230
Chromosome Location	chr11:65356674-65356675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:65355218-65356694	A549	lung:	n/a	chr11:65355781-65355791 chr11:65356358-65356379 chr11:65356356-65356374 chr11:65356538-65356545 chr11:65356343-65356361
2	POLR2A	chr11:65355908-65356725	K562	blood:	n/a	n/a
3	POLR2A	chr11:65355008-65356745	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:65354997-65356680	GM12878	blood:	n/a	n/a
5	ELF1	chr11:65355278-65357635	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:65356105-65356780	HepG2	liver:	n/a	n/a
7	CTCF	chr11:65355971-65356814	SK-N-SH	brain:	n/a	chr11:65356358-65356379 chr11:65356356-65356374 chr11:65356538-65356545 chr11:65356343-65356361
8	POLR2A	chr11:65356563-65356971	GM12878	blood:	n/a	n/a
9	SMC3	chr11:65356154-65356692	SK-N-SH	brain:	n/a	chr11:65356358-65356372 chr11:65356443-65356453

No.	Distal block	Cell Line	Cell type
1	chr11:65354839..65357578-chr11:65381038..65382552,2	MCF-7	breast:
2	chr11:65261343..65264179-chr11:65354610..65357170,2	K562	blood:
3	chr11:65307286..65308208-chr11:65356254..65356776,2	K562	blood:
4	chr11:65273920..65277219-chr11:65354093..65357225,5	K562	blood:
5	chr11:65341255..65342460-chr11:65355882..65356862,6	MCF-7	breast:
6	chr11:65341328..65342159-chr11:65355898..65356808,3	K562	blood:
7	chr11:65354450..65357297-chr11:65624972..65626942,2	K562	blood:

Variant related genes	Relation type
EHBP1L1	TF binding region
ENSG00000168056	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10750762	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10750763	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10791819	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10791820	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10791821	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896019	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10896021	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10896022	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11227234	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11227235	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1151503	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298615	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34278912	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3814752	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4326800	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7932616	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7937415	0.82[EUR][1000 genomes]
rs7946115	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs948577	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS 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	999 gene(s)	inside rSNPs	diseases
3	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
4	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
5	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription 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 miRNA target site	972 gene(s)	inside rSNPs	diseases
6	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
7	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
8	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
9	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
10	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
11	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers 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 miRNA target site	102 gene(s)	inside rSNPs	diseases
12	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
13	nsv897730	chr11:65302893-65376484	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv468599	chr11:65335705-65427346	ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
15	nsv555213	chr11:65335705-65427346	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers 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	78 gene(s)	inside rSNPs	diseases
16	nsv897732	chr11:65335705-65427346	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active 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 miRNA target site	78 gene(s)	inside rSNPs	diseases
17	nsv468600	chr11:65335705-65431360	Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
18	nsv555214	chr11:65335705-65431360	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers 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	92 gene(s)	inside rSNPs	diseases
19	nsv897733	chr11:65335705-65431360	Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
20	nsv897734	chr11:65335705-65436888	Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
21	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
22	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
23	nsv897737	chr11:65337714-65361765	Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
24	nsv897738	chr11:65337714-65380248	Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
25	nsv897739	chr11:65337714-65388300	Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
26	nsv897740	chr11:65338589-65371604	Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
27	nsv897741	chr11:65338589-65376484	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
28	nsv897742	chr11:65338589-65380248	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
29	nsv897743	chr11:65338589-65382564	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong 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	51 gene(s)	inside rSNPs	diseases
30	nsv897744	chr11:65339099-65359435	Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Enhancers 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	37 gene(s)	inside rSNPs	diseases
31	nsv897745	chr11:65339099-65367253	Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
32	esv2761680	chr11:65344328-65391317	Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	46 gene(s)	inside rSNPs	diseases
33	nsv897746	chr11:65349756-65427346	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription 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 miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
34	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active 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 miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11227230	SNX32	cis	brain	BrainEAC

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65346000-65364000	Genic enhancers	Fetal Muscle Leg	muscle
2	chr11:65346400-65356800	Strong transcription	Thymus	Thymus
3	chr11:65348200-65362000	Genic enhancers	Fetal Muscle Trunk	muscle
4	chr11:65349400-65365000	Weak transcription	Ovary	ovary
5	chr11:65351400-65361400	Genic enhancers	Spleen	Spleen
6	chr11:65351600-65361400	Strong transcription	Dnd41	blood
7	chr11:65351800-65358000	Genic enhancers	Colon Smooth Muscle	Colon
8	chr11:65352600-65357200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:65352600-65359200	Weak transcription	Pancreas	Pancrea
10	chr11:65353200-65358200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:65353600-65357200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:65353600-65357400	Weak transcription	Fetal Lung	lung
13	chr11:65353600-65357800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:65353800-65357400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:65353800-65357600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:65354000-65357400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:65354200-65357200	Enhancers	Placenta	Placenta
18	chr11:65354200-65357200	Enhancers	K562	blood
19	chr11:65354200-65357400	Weak transcription	Aorta	Aorta
20	chr11:65354600-65357200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr11:65354600-65357400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:65354600-65357400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:65354800-65358000	Strong transcription	Brain Germinal Matrix	brain
24	chr11:65355000-65357400	Enhancers	Primary B cells from cord blood	blood
25	chr11:65355000-65357600	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:65355200-65357400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:65355400-65357200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:65355400-65357200	Enhancers	Fetal Intestine Large	intestine
29	chr11:65355400-65357400	Genic enhancers	Fetal Intestine Small	intestine
30	chr11:65355400-65358000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:65355400-65359400	Genic enhancers	Fetal Stomach	stomach
32	chr11:65355600-65356800	Enhancers	Primary B cells from peripheral blood	blood
33	chr11:65355600-65357000	Enhancers	Fetal Thymus	thymus
34	chr11:65355600-65357400	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:65355600-65360400	Weak transcription	Brain Substantia Nigra	brain
36	chr11:65355800-65357400	Weak transcription	Osteobl	bone
37	chr11:65355800-65370800	Weak transcription	Small Intestine	intestine
38	chr11:65356000-65357400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:65356000-65357400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:65356000-65357600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:65356000-65358000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr11:65356000-65358200	Strong transcription	NHLF	lung
43	chr11:65356000-65360600	Weak transcription	Brain Angular Gyrus	brain
44	chr11:65356200-65356800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr11:65356200-65357000	Enhancers	Primary T cells from cord blood	blood
46	chr11:65356200-65357000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:65356200-65357200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:65356200-65357200	Enhancers	Stomach Smooth Muscle	stomach
49	chr11:65356200-65357400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr11:65356200-65357400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links