Variant report

Variant	rs6483293
Chromosome Location	chr11:93864321-93864322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93862864..93865828-chr11:93884142..93886084,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10831167	0.87[EUR][1000 genomes]
rs1138800	0.92[CEU][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4073612	0.83[CHB][hapmap]
rs4073613	0.83[CHB][hapmap]
rs4073615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753541	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4753542	0.83[CHB][hapmap]
rs4753543	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66700729	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7105544	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7942313	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv523082	chr11:93834223-93866147	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv508651	chr11:93834300-93880470	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 miRNA target site	12 gene(s)	inside rSNPs	diseases
7	esv989619	chr11:93861937-93872912	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv469980	chr11:93864321-93962121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv468795	chr11:93864321-93964917	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv555966	chr11:93864321-93964917	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6483293	PANX1	cis	cerebellum	SCAN
rs6483293	HEPHL1	cis	Thyroid	GTEx
rs6483293	PANX1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93861200-93864400	Active TSS	Aorta	Aorta
2	chr11:93861400-93864400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr11:93862400-93864800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr11:93862600-93864400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr11:93862600-93864400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr11:93862600-93864600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:93862600-93864600	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr11:93862600-93864800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr11:93862600-93865000	Flanking Active TSS	Dnd41	blood
10	chr11:93862600-93865000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr11:93862800-93864400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr11:93862800-93864400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr11:93862800-93864400	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr11:93862800-93864400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:93862800-93864600	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr11:93862800-93864800	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr11:93862800-93864800	Flanking Active TSS	Hela-S3	cervix
18	chr11:93862800-93864800	Flanking Active TSS	Osteobl	bone
19	chr11:93862800-93865600	Flanking Active TSS	Fetal Lung	lung
20	chr11:93862800-93865600	Flanking Active TSS	NH-A	brain
21	chr11:93862800-93865800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr11:93862800-93865800	Flanking Active TSS	NHEK	skin
23	chr11:93862800-93866000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:93863000-93864400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:93863000-93864400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
26	chr11:93863000-93864400	Flanking Active TSS	Right Atrium	heart
27	chr11:93863000-93864800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr11:93863000-93864800	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr11:93863000-93864800	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr11:93863000-93864800	Flanking Active TSS	HepG2	liver
31	chr11:93863000-93865600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr11:93863000-93865800	Flanking Active TSS	HMEC	breast
33	chr11:93863000-93866600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:93863000-93866600	Enhancers	Spleen	Spleen
35	chr11:93863000-93867200	Enhancers	Esophagus	oesophagus
36	chr11:93863200-93864400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:93863200-93864400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:93863200-93864600	Enhancers	Primary hematopoietic stem cells	blood
39	chr11:93863200-93864600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr11:93863200-93864600	Flanking Active TSS	GM12878-XiMat	blood
41	chr11:93863200-93864800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr11:93863200-93864800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:93863200-93865000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:93863200-93865200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:93863200-93865200	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr11:93863200-93865400	Enhancers	Primary B cells from peripheral blood	blood
47	chr11:93863200-93865600	Flanking Active TSS	Fetal Brain Female	brain
48	chr11:93863200-93865800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:93863200-93865800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:93863200-93865800	Flanking Active TSS	NHLF	lung

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