Variant report

Variant	rs11229532
Chromosome Location	chr11:58342350-58342351
allele	C/T
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	POLR2A	chr11:58341945-58343563	GM12891	blood:	n/a	n/a
2	FOS	chr11:58342266-58342701	MCF10A-Er-Src	breast:	n/a	chr11:58342453-58342463 chr11:58342453-58342463 chr11:58342453-58342463 chr11:58342587-58342601 chr11:58342454-58342462 chr11:58342453-58342463 chr11:58342455-58342466
3	EP300	chr11:58342140-58342921	SK-N-SH	brain:	n/a	chr11:58342849-58342863
4	POLR2A	chr11:58340815-58343617	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:58342006-58342526	GM12891	blood:	n/a	n/a
6	NFIC	chr11:58342232-58342775	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr11:58342331-58342874	SK-N-SH	brain:	n/a	n/a
8	STAT3	chr11:58342267-58342681	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:58342222-58342775	MCF10A-Er-Src	breast:	n/a	chr11:58342453-58342463 chr11:58342453-58342463 chr11:58342453-58342463 chr11:58342587-58342601 chr11:58342454-58342462 chr11:58342453-58342463 chr11:58342455-58342466
10	POLR2A	chr11:58341911-58343484	GM12892	blood:	n/a	n/a
11	BHLHE40	chr11:58342251-58342372	GM12878	blood:	n/a	n/a
12	STAT3	chr11:58342225-58342670	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:58341968-58347772	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:58340783-58347750	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:58342069-58343549	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:58342114-58342695	U87	brain:	n/a	n/a
17	STAT3	chr11:58342320-58342586	MCF10A-Er-Src	breast:	n/a	n/a
18	TCF12	chr11:58342218-58342789	SK-N-SH	brain:	n/a	n/a
19	FOSL2	chr11:58342172-58342771	SK-N-SH	brain:	n/a	chr11:58342453-58342463 chr11:58342453-58342463 chr11:58342453-58342463 chr11:58342587-58342601 chr11:58342454-58342462 chr11:58342453-58342463 chr11:58342455-58342466
20	POLR2A	chr11:58342260-58342695	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr11:58342295-58342753	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:58341956-58342734	U87	brain:	n/a	n/a
23	POLR2A	chr11:58342155-58342695	U87	brain:	n/a	n/a
24	POLR2A	chr11:58340797-58347609	GM12878	blood:	n/a	n/a
25	CHD1	chr11:58340762-58343698	GM12878	blood:	n/a	n/a
26	NFIC	chr11:58342102-58343027	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr11:58341981-58343507	GM12891	blood:	n/a	n/a
28	POLR2A	chr11:58340330-58343582	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:58340757-58348164	GM12891	blood:	n/a	n/a
30	FOS	chr11:58342301-58342650	MCF10A-Er-Src	breast:	n/a	chr11:58342453-58342463 chr11:58342453-58342463 chr11:58342453-58342463 chr11:58342587-58342601 chr11:58342454-58342462 chr11:58342453-58342463 chr11:58342455-58342466
31	STAT3	chr11:58342251-58342354	GM12878	blood:	n/a	n/a
32	USF2	chr11:58342332-58342509	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:58340360-58347719	GM12892	blood:	n/a	n/a
34	POLR2A	chr11:58342011-58342728	U87	brain:	n/a	n/a
35	TCF12	chr11:58342136-58342924	SK-N-SH	brain:	n/a	n/a
36	E2F4	chr11:58342290-58342490	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:58340732-58343627	GM18505	blood:	n/a	n/a
38	PML	chr11:58342171-58343848	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:58340765-58343498	GM12878	blood:	n/a	n/a
40	TBL1XR1	chr11:58342329-58342529	GM12878	blood:	n/a	n/a
41	MXI1	chr11:58342253-58343584	GM12878	blood:	n/a	n/a
42	FOS	chr11:58342285-58342694	MCF10A-Er-Src	breast:	n/a	chr11:58342453-58342463 chr11:58342453-58342463 chr11:58342453-58342463 chr11:58342587-58342601 chr11:58342454-58342462 chr11:58342453-58342463 chr11:58342455-58342466

No.	Distal block	Cell Line	Cell type
1	chr11:58340817..58343050-chr11:58387964..58391771,3	K562	blood:
2	chr11:58341513..58344415-chr11:58344785..58347272,2	MCF-7	breast:
3	chr11:58340835..58343059-chr11:58344433..58346364,2	MCF-7	breast:

Variant related genes	Relation type
ZFP91	TF binding region
ZFP91-CNTF	TF binding region
ENSG00000186660	Chromatin interaction
ENSG00000110031	Chromatin interaction
ENSG00000255073	Chromatin interaction
ENSG00000242689	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11229438	0.94[ASN][1000 genomes]
rs11229439	0.91[ASN][1000 genomes]
rs11229479	0.94[ASN][1000 genomes]
rs11229535	1.00[ASN][1000 genomes]
rs11229537	1.00[ASN][1000 genomes]
rs11229544	1.00[ASN][1000 genomes]
rs11229552	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11541682	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12361887	0.94[ASN][1000 genomes]
rs12365551	1.00[ASN][1000 genomes]
rs17473544	0.92[ASN][1000 genomes]
rs17489568	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17568220	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1800169	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1938601	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1944051	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298607	0.97[ASN][1000 genomes]
rs3829218	0.97[ASN][1000 genomes]
rs60767173	0.97[ASN][1000 genomes]
rs60998298	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7112350	0.97[ASN][1000 genomes]
rs73470773	0.95[ASN][1000 genomes]
rs73470778	0.95[ASN][1000 genomes]
rs7481388	1.00[ASN][1000 genomes]
rs7482383	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7484263	0.95[ASN][1000 genomes]
rs7945889	1.00[ASN][1000 genomes]
rs948562	1.00[ASN][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	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers 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 target site	67 gene(s)	inside rSNPs	diseases
2	nsv528190	chr11:58336620-58347765	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58318400-58344800	Weak transcription	Fetal Brain Male	brain
2	chr11:58318600-58344400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:58319200-58343000	Weak transcription	Fetal Brain Female	brain
4	chr11:58321800-58345000	Weak transcription	Ovary	ovary
5	chr11:58322400-58344200	Weak transcription	Fetal Lung	lung
6	chr11:58329400-58342600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:58329400-58344400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:58330200-58343000	Weak transcription	Fetal Kidney	kidney
9	chr11:58330600-58345000	Weak transcription	Gastric	stomach
10	chr11:58337200-58343800	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:58337600-58342600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:58337600-58343000	Weak transcription	Spleen	Spleen
13	chr11:58337600-58343200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:58337600-58343800	Weak transcription	Aorta	Aorta
15	chr11:58337600-58345000	Weak transcription	Lung	lung
16	chr11:58337800-58343800	Weak transcription	Fetal Intestine Small	intestine
17	chr11:58338200-58343800	Weak transcription	Fetal Intestine Large	intestine
18	chr11:58338200-58344200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:58338800-58343600	Active TSS	GM12878-XiMat	blood
20	chr11:58338800-58344200	Weak transcription	Fetal Stomach	stomach
21	chr11:58339400-58344200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:58339800-58345000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr11:58340200-58343800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr11:58340200-58344000	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr11:58340400-58342400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:58340400-58345200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr11:58340600-58342800	Weak transcription	Esophagus	oesophagus
28	chr11:58340600-58343200	Active TSS	Duodenum Mucosa	Duodenum
29	chr11:58340600-58343600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr11:58340600-58344200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:58340600-58344600	Enhancers	Fetal Heart	heart
32	chr11:58340800-58342400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:58340800-58342400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:58340800-58342400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr11:58340800-58343400	Flanking Active TSS	NHEK	skin
36	chr11:58340800-58343400	Flanking Active TSS	Osteobl	bone
37	chr11:58340800-58343600	Active TSS	Primary T cells fromperipheralblood	blood
38	chr11:58340800-58344200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:58340800-58344800	Enhancers	Colon Smooth Muscle	Colon
40	chr11:58340800-58344800	Flanking Active TSS	Dnd41	blood
41	chr11:58341000-58342400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr11:58341000-58342400	Enhancers	Brain Angular Gyrus	brain
43	chr11:58341000-58342400	Enhancers	Brain Anterior Caudate	brain
44	chr11:58341000-58342400	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:58341000-58342400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:58341000-58342600	Enhancers	HSMMtube	muscle
47	chr11:58341000-58343800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr11:58341000-58343800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:58341000-58344000	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr11:58341000-58344600	Flanking Active TSS	NHDF-Ad	bronchial

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