Variant report

Variant	rs11020503
Chromosome Location	chr11:93469649-93469650
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	chr11:93469329-93475448	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:93458130-93475423	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:93465161-93475401	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:93469464-93470076	MCF-7	breast:	n/a	n/a
5	POLR2A	chr11:93460289-93472162	K562	blood:	n/a	n/a
6	POLR2A	chr11:93465505-93475492	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:93460849-93475367	GM18505	blood:	n/a	n/a
8	POLR2A	chr11:93460250-93475527	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:93469624-93475431	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr11:93459876-93475383	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:93469231-93475445	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr11:93466346-93475414	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:93468964-93469660	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr11:93460023-93475421	GM12878	blood:	n/a	n/a
15	FOS	chr11:93469403-93469677	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:93460630-93475546	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr11:93459823-93475456	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:93469412-93475274	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:93459661-93475348	K562	blood:	n/a	n/a
20	CEBPB	chr11:93469334-93469665	HepG2	liver:	n/a	chr11:93469497-93469508
21	POLR2A	chr11:93469352-93470115	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:93460770-93475249	K562	blood:	n/a	n/a
23	CEBPB	chr11:93469339-93469658	A549	lung:	n/a	chr11:93469497-93469508
24	POLR2A	chr11:93469221-93469772	K562	blood:	n/a	n/a
25	CEBPB	chr11:93469307-93469698	IMR90	lung:	n/a	chr11:93469497-93469508
26	POLR2A	chr11:93466399-93469879	GM18951	blood:	n/a	n/a
27	CEBPB	chr11:93469361-93469689	K562	blood:	n/a	chr11:93469497-93469508
28	CEBPB	chr11:93469317-93469692	Hela-S3	cervix:	n/a	chr11:93469497-93469508
29	FOS	chr11:93469361-93469683	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:93466351-93475353	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:
2	chr11:93468490..93476714-chr11:93515963..93520210,25	MCF-7	breast:
3	chr11:93431256..93433369-chr11:93468938..93470943,2	K562	blood:
4	chr11:93468648..93476533-chr11:93513626..93520226,41	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VSTM5-1	chr11:93469307-93469972	NONHSAT023679

Variant related genes	Relation type
MIR1304	TF binding region
SNORD5	TF binding region
SNORA40	TF binding region
SNORA18	TF binding region
SNORA8	TF binding region
SNORA1	TF binding region
SNORD6	TF binding region
TAF1D	TF binding region
ENSG00000166012	Chromatin interaction
ENSG00000166004	Chromatin interaction
ENSG00000042429	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12277652	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS 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	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93444800-93471000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:93449200-93471800	Weak transcription	Right Atrium	heart
3	chr11:93449600-93471800	Weak transcription	Esophagus	oesophagus
4	chr11:93450600-93471800	Weak transcription	Gastric	stomach
5	chr11:93450600-93473000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:93451600-93469800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:93451600-93470800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:93453800-93471200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:93453800-93471800	Strong transcription	Fetal Muscle Leg	muscle
10	chr11:93453800-93471800	Strong transcription	Fetal Thymus	thymus
11	chr11:93453800-93472400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr11:93454000-93470400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:93454400-93469800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:93454400-93470000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr11:93454400-93470800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:93454400-93471000	Strong transcription	Fetal Lung	lung
17	chr11:93454600-93471000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:93454600-93471000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:93454800-93471000	Strong transcription	Adipose Nuclei	Adipose
20	chr11:93455000-93471200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:93455000-93471800	Strong transcription	Placenta	Placenta
22	chr11:93457400-93470200	Strong transcription	Brain Cingulate Gyrus	brain
23	chr11:93458400-93471800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr11:93458800-93471000	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr11:93458800-93471000	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:93458800-93471800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:93459400-93470400	Strong transcription	Primary B cells from cord blood	blood
28	chr11:93459400-93473000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:93459600-93470200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:93459600-93471800	Strong transcription	Colon Smooth Muscle	Colon
31	chr11:93459800-93470800	Strong transcription	Brain Hippocampus Middle	brain
32	chr11:93460200-93471000	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr11:93460200-93471800	Strong transcription	Brain Anterior Caudate	brain
34	chr11:93460400-93471000	Strong transcription	Fetal Kidney	kidney
35	chr11:93461000-93471800	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:93461200-93471000	Strong transcription	HSMMtube	muscle
37	chr11:93461400-93471800	Strong transcription	Rectal Smooth Muscle	rectum
38	chr11:93461600-93471000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr11:93461800-93470000	Strong transcription	Brain Angular Gyrus	brain
40	chr11:93461800-93470600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:93462000-93471400	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr11:93462400-93471000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:93462400-93471800	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr11:93462800-93471800	Weak transcription	Aorta	Aorta
45	chr11:93463800-93470800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:93464000-93471000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:93465200-93471200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:93465400-93471800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
49	chr11:93465400-93472200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr11:93465600-93471600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood

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